Variant report

Variant	rs2073446
Chromosome Location	chr22:22550078-22550079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr22:22549677-22550245	K562	blood:	n/a	n/a
2	CTCF	chr22:22549764-22550081	GM13977	blood:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
3	MAX	chr22:22549740-22550167	K562	blood:	n/a	n/a
4	BHLHE40	chr22:22549752-22550552	GM12878	blood:	n/a	n/a
5	ZNF143	chr22:22549773-22550095	Hela-S3	cervix:	n/a	chr22:22549818-22549837
6	FOXM1	chr22:22549704-22550101	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:22549777-22551896	GM18951	blood:	n/a	n/a
8	MAFK	chr22:22549982-22550579	HepG2	liver:	n/a	chr22:22550383-22550398
9	POLR2A	chr22:22549765-22551700	Raji	blood:	n/a	n/a
10	CEBPB	chr22:22549841-22550213	HepG2	liver:	n/a	chr22:22550066-22550075 chr22:22550064-22550077 chr22:22550065-22550076
11	MEF2C	chr22:22549735-22550245	GM12878	blood:	n/a	n/a
12	SMC3	chr22:22549618-22550221	K562	blood:	n/a	chr22:22549972-22549980 chr22:22550157-22550165 chr22:22549903-22549917 chr22:22549966-22549980
13	CTCF	chr22:22549561-22550105	Spleen_OC	spleen:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918 chr22:22549639-22549652
14	CTCF	chr22:22549726-22550134	GM19239	blood:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
15	CTCF	chr22:22549722-22550125	GM19238	blood:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
16	SMC3	chr22:22549730-22550158	Hela-S3	cervix:	n/a	chr22:22549972-22549980 chr22:22549903-22549917 chr22:22549966-22549980
17	TCF12	chr22:22549704-22550162	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr22:22549842-22550546	H1-hESC	embryonic stem cell:	n/a	chr22:22550383-22550398
19	POLR2A	chr22:22549819-22550876	GM12878	blood:	n/a	n/a
20	USF2	chr22:22549730-22550153	K562	blood:	n/a	n/a
21	CTCF	chr22:22549698-22550145	A549	lung:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
22	RAD21	chr22:22549629-22550129	MCF-7	breast:	n/a	chr22:22549906-22549915 chr22:22549902-22549921 chr22:22549962-22549981
23	ETS1	chr22:22549614-22550866	K562	blood:	n/a	chr22:22550818-22550825 chr22:22550814-22550827
24	MAX	chr22:22549605-22550394	K562	blood:	n/a	chr22:22550282-22550293
25	CTCF	chr22:22549703-22550145	T-47D	breast:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
26	PAX5	chr22:22549974-22550126	GM12878	blood:	n/a	n/a
27	THAP1	chr22:22549697-22550731	K562	blood:	n/a	n/a
28	CTCF	chr22:22549665-22550151	HepG2	liver:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
29	RCOR1	chr22:22549702-22550182	K562	blood:	n/a	n/a
30	CTCF	chr22:22549502-22550244	K562	blood:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918 chr22:22549639-22549652
31	CTCF	chr22:22549532-22550278	K562	blood:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918 chr22:22549639-22549652
32	SMC3	chr22:22549523-22550275	SK-N-SH	brain:	n/a	chr22:22549972-22549980 chr22:22550157-22550165 chr22:22549903-22549917 chr22:22549966-22549980
33	MAFK	chr22:22549385-22550914	GM12878	blood:	n/a	chr22:22550383-22550398
34	BATF	chr22:22549801-22550251	GM12878	blood:	n/a	n/a
35	GATA2	chr22:22549655-22550440	K562	blood:	n/a	chr22:22550131-22550138 chr22:22550129-22550139 chr22:22550129-22550138 chr22:22550128-22550140 chr22:22550131-22550138 chr22:22550131-22550138
36	STAT5A	chr22:22549357-22550308	K562	blood:	n/a	chr22:22549570-22549578
37	POLR2A	chr22:22549914-22550821	GM12878	blood:	n/a	n/a
38	CHD1	chr22:22549739-22550767	GM12878	blood:	n/a	n/a
39	CTCF	chr22:22549605-22550276	GM12878	blood:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918 chr22:22549639-22549652
40	MAFK	chr22:22549728-22550583	K562	blood:	n/a	chr22:22550383-22550398
41	CTCF	chr22:22549768-22550125	LNCaP	prostate:	n/a	chr22:22549964-22549982 chr22:22549903-22549924 chr22:22549971-22549979 chr22:22549901-22549919 chr22:22549904-22549913 chr22:22549906-22549916 chr22:22549959-22549980 chr22:22549902-22549918
42	MAFK	chr22:22549875-22550578	HepG2	liver:	n/a	chr22:22550383-22550398
43	BHLHE40	chr22:22549711-22550191	K562	blood:	n/a	n/a
44	CUX1	chr22:22549776-22550154	K562	blood:	n/a	n/a
45	SP1	chr22:22549837-22550258	GM12878	blood:	n/a	chr22:22550006-22550020
46	POLR2A	chr22:22550017-22550716	GM12878	blood:	n/a	n/a
47	POU2F2	chr22:22549716-22550225	GM12891	blood:	n/a	chr22:22550092-22550099 chr22:22550091-22550100 chr22:22550091-22550102
48	POLR2A	chr22:22549809-22551420	GM18526	blood:	n/a	n/a
49	MEF2A	chr22:22549774-22550243	GM12878	blood:	n/a	n/a
50	MYC	chr22:22549735-22550143	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22511366..22511967-chr22:22549499..22550159,2	MCF-7	breast:
2	chr22:22540069..22542398-chr22:22548801..22550935,2	K562	blood:
3	chr22:22525890..22526943-chr22:22549598..22550494,4	MCF-7	breast:
4	chr15:83794208..83795188-chr22:22549482..22550087,2	K562	blood:
5	chr22:22510846..22511784-chr22:22549573..22550389,4	K562	blood:
6	chr22:22536360..22539050-chr22:22549393..22551343,2	K562	blood:
7	chr22:22293231..22296069-chr22:22547536..22550098,2	K562	blood:
8	chr22:22549882..22550785-chr22:22711315..22712247,3	K562	blood:
9	chr22:22415106..22415910-chr22:22549461..22550391,2	K562	blood:
10	chr22:22384667..22385486-chr22:22549478..22550359,6	MCF-7	breast:
11	chr22:22549365..22550379-chr22:22763324..22764299,3	K562	blood:

Variant related genes	Relation type
IGLVI-56	TF binding region
IGLV6-57	TF binding region
ENSG00000211637	Chromatin interaction
ENSG00000236323	Chromatin interaction
ENSG00000253637	Chromatin interaction
ENSG00000211648	Chromatin interaction
ENSG00000224465	Chromatin interaction
ENSG00000211653	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000233720	Chromatin interaction
ENSG00000254075	Chromatin interaction

Extended variants
information (count: 417 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10483109	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11089955	0.84[ASN][1000 genomes]
rs12169505	0.80[ASN][1000 genomes]
rs12330005	0.84[ASN][1000 genomes]
rs1543780	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2073448	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2105815	0.82[MEX][hapmap];0.81[TSI][hapmap]
rs4145537	0.85[LWK][hapmap]
rs4287862	0.84[CEU][hapmap]
rs4821790	0.84[CEU][hapmap]
rs5750570	0.84[CEU][hapmap]
rs5750674	0.81[TSI][hapmap]
rs5750689	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5757120	0.84[CEU][hapmap]
rs5757246	0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs5757315	0.90[EUR][1000 genomes]
rs5757316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5757323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59272912	0.85[ASN][1000 genomes]
rs5995615	0.83[LWK][hapmap]
rs5995616	0.85[LWK][hapmap]
rs5995628	0.81[LWK][hapmap]
rs6001219	0.85[LWK][hapmap]
rs6001224	0.85[LWK][hapmap]
rs6001229	0.87[LWK][hapmap]
rs61656230	0.88[ASN][1000 genomes]
rs738885	0.84[CEU][hapmap]
rs738902	0.84[CEU][hapmap]
rs762469	0.89[CEU][hapmap]
rs8137952	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8139876	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs8140963	0.85[ASN][1000 genomes]
rs8142659	0.84[ASN][1000 genomes]
rs928896	0.85[LWK][hapmap]
rs9619829	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9623019	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9623052	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680544	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
11	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
12	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
15	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
16	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
17	esv2422217	chr22:22217341-23120076	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
18	esv2756316	chr22:22275642-22570417	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
19	nsv432177	chr22:22282776-22570446	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
20	nsv588323	chr22:22284513-22573637	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
21	nsv516394	chr22:22290403-22584255	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
22	nsv588324	chr22:22292995-22573637	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	nsv1060215	chr22:22292995-22573975	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
24	esv2422458	chr22:22296499-22573631	Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
25	nsv1060212	chr22:22297647-22573975	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
26	nsv1059964	chr22:22297647-22579822	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
27	nsv1065598	chr22:22297647-22597978	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
28	nsv1063502	chr22:22297716-22573431	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
29	nsv1059754	chr22:22297922-22573975	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
30	nsv1055443	chr22:22297922-22582073	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
31	esv2422343	chr22:22298025-23112582	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
32	nsv914479	chr22:22300941-22569758	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
33	nsv914480	chr22:22300941-22580314	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
34	nsv1061168	chr22:22303401-22579822	Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
35	nsv1061269	chr22:22306272-22566220	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
36	nsv1060238	chr22:22306272-22583038	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
37	nsv914487	chr22:22307381-22560489	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
38	nsv914488	chr22:22307381-22562874	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
39	nsv588325	chr22:22307381-22573637	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
40	nsv914489	chr22:22307381-22573637	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
41	nsv914490	chr22:22307381-22579130	Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
42	nsv914491	chr22:22307381-22580314	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
43	nsv914492	chr22:22307381-22583252	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
44	nsv1064457	chr22:22307519-22573975	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
45	nsv1060074	chr22:22307519-22579483	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
46	esv2754998	chr22:22307519-22599537	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
47	nsv432178	chr22:22307519-23222208	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
48	nsv432179	chr22:22307519-23288012	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
49	nsv1064398	chr22:22307582-22569882	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
50	nsv870098	chr22:22307630-22582342	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2073446	UFD1L	cis	parietal	SCAN
rs2073446	DGCR11	cis	cerebellum	SCAN
rs2073446	POM121L9P	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22548400-22550200	Enhancers	Primary B cells from peripheral blood	blood
2	chr22:22548400-22557800	Enhancers	Primary B cells from cord blood	blood
3	chr22:22549600-22550200	Strong transcription	Right Atrium	heart
4	chr22:22549600-22550400	Enhancers	K562	blood
5	chr22:22549600-22550600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:22549600-22550800	Enhancers	Fetal Thymus	thymus
7	chr22:22549800-22550200	Enhancers	Pancreas	Pancrea
8	chr22:22549800-22550200	Enhancers	Dnd41	blood
9	chr22:22550000-22550200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr22:22550000-22550200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr22:22550000-22550200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr22:22550000-22550200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr22:22550000-22550200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr22:22550000-22550200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr22:22550000-22550200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr22:22550000-22550400	Enhancers	Thymus	Thymus
17	chr22:22550000-22550600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:22550000-22551000	Flanking Active TSS	GM12878-XiMat	blood

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