Variant report

Variant	rs4821790
Chromosome Location	chr22:22511370-22511371
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	RCOR1	chr22:22511142-22511508	K562	blood:	n/a	n/a
2	YY1	chr22:22511159-22511675	K562	blood:	n/a	chr22:22511520-22511529
3	TBP	chr22:22511149-22511689	GM12878	blood:	n/a	n/a
4	CTCF	chr22:22511240-22511390	GM12868	blood:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
5	FOXA2	chr22:22511251-22511782	A549	lung:	n/a	n/a
6	CTCF	chr22:22511260-22511410	GM12874	blood:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
7	POLR2A	chr22:22511261-22511505	GM12878	blood:	n/a	n/a
8	RAD21	chr22:22511080-22511463	K562	blood:	n/a	chr22:22511286-22511305 chr22:22511287-22511301
9	CTCF	chr22:22511199-22511416	NHEK	skin:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
10	TAF1	chr22:22511195-22511546	GM12892	blood:	n/a	n/a
11	HMGN3	chr22:22511258-22511504	K562	blood:	n/a	n/a
12	GABPA	chr22:22511037-22511684	K562	blood:	n/a	n/a
13	CTCF	chr22:22511176-22511408	LNCaP	prostate:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
14	CTCF	chr22:22511220-22511370	HRPEpiC	eye:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
15	PAX5	chr22:22511186-22511943	GM12878	blood:	n/a	chr22:22511581-22511590
16	GABPA	chr22:22511150-22511497	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr22:22511102-22511502	H1-hESC	embryonic stem cell:	n/a	chr22:22511286-22511305 chr22:22511287-22511301
18	CTCF	chr22:22511240-22511390	SAEC	small airway:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
19	CTCF	chr22:22511260-22511410	Hela-S3	cervix:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
20	CTCF	chr22:22511220-22511370	HCT-116	colon:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
21	CTCF	chr22:22511232-22511392	H1-hESC	embryonic stem cell:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
22	CTCF	chr22:22511240-22511390	HEEpiC	esophagus:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
23	ELF1	chr22:22511129-22511485	HepG2	liver:	n/a	n/a
24	TBL1XR1	chr22:22511138-22511583	GM12878	blood:	n/a	n/a
25	CTCF	chr22:22511126-22511432	Spleen_OC	spleen:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
26	CTCF	chr22:22511220-22511370	GM12801	blood:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
27	RCOR1	chr22:22511261-22511708	K562	blood:	n/a	n/a
28	TAF1	chr22:22511195-22511463	GM12891	blood:	n/a	n/a
29	STAT3	chr22:22511322-22511503	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr22:22511269-22511473	GM12878	blood:	n/a	n/a
31	RAD21	chr22:22511115-22511491	Hela-S3	cervix:	n/a	chr22:22511286-22511305 chr22:22511287-22511301
32	CTCF	chr22:22511220-22511370	BE2_C	brain:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
33	POLR2A	chr22:22511227-22511553	GM12891	blood:	n/a	n/a
34	MAZ	chr22:22511155-22511972	GM12878	blood:	n/a	n/a
35	STAT5A	chr22:22510889-22512399	K562	blood:	n/a	n/a
36	RAD21	chr22:22511093-22511429	SK-N-SH_RA	brain:	n/a	chr22:22511286-22511305 chr22:22511287-22511301
37	ELK1	chr22:22511170-22511772	K562	blood:	n/a	n/a
38	POLR2A	chr22:22511180-22511859	GM12878	blood:	n/a	n/a
39	CTCF	chr22:22510909-22511758	A549	lung:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
40	CTCF	chr22:22511048-22511550	HCT-116	colon:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
41	CTCF	chr22:22511203-22511517	GM12892	blood:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
42	CTCF	chr22:22511220-22511370	HPF	lung:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
43	CTCF	chr22:22511220-22511370	AG09309	skin:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
44	ELF1	chr22:22511116-22511460	A549	lung:	n/a	n/a
45	YY1	chr22:22511188-22511635	GM12892	blood:	n/a	chr22:22511520-22511529
46	CTCF	chr22:22511280-22511430	Hela-S3	cervix:	n/a	chr22:22511285-22511303 chr22:22511287-22511308 chr22:22511288-22511301
47	ELF1	chr22:22511036-22511583	K562	blood:	n/a	n/a
48	CHD2	chr22:22511139-22511812	GM12878	blood:	n/a	n/a
49	CEBPB	chr22:22511234-22511604	K562	blood:	n/a	chr22:22511538-22511550
50	TBL1XR1	chr22:22510863-22511496	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22338933..22339882-chr22:22510840..22511767,5	K562	blood:
2	chr22:22511026..22511686-chr22:22711801..22712316,2	K562	blood:
3	chr22:22511255..22511788-chr22:22522548..22523132,2	K562	blood:
4	chr22:22510818..22511588-chr22:22560543..22561190,2	MCF-7	breast:
5	chr22:22292437..22293116-chr22:22510862..22511672,2	K562	blood:
6	chr22:22511366..22511967-chr22:22549499..22550159,2	MCF-7	breast:
7	chr22:22510850..22511523-chr22:23029816..23030698,2	K562	blood:
8	chr22:22510846..22511784-chr22:22549573..22550389,4	K562	blood:
9	chr22:22415042..22415605-chr22:22510840..22511772,2	K562	blood:
10	chr22:22502360..22503062-chr22:22510857..22511755,2	K562	blood:
11	chr22:22507386..22515452-chr22:22515920..22525466,16	K562	blood:
12	chr22:22465081..22465624-chr22:22511062..22511684,2	MCF-7	breast:
13	chr22:22510826..22511744-chr22:22590149..22590687,3	K562	blood:
14	chr22:22510820..22511384-chr22:22676029..22677015,2	K562	blood:
15	chr22:22510925..22511680-chr22:22560348..22561277,3	MCF-7	breast:
16	chr22:22510838..22511505-chr22:22815220..22815722,2	K562	blood:
17	chr22:22504904..22512201-chr22:22531462..22537596,8	K562	blood:
18	chr22:22509812..22513706-chr22:22514979..22519808,10	K562	blood:
19	chr22:22454454..22455249-chr22:22511032..22511659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233720	TF binding region
ENSG00000211639	Chromatin interaction
ENSG00000211644	Chromatin interaction
ENSG00000253637	Chromatin interaction
ENSG00000254075	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000227710	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000211648	Chromatin interaction
ENSG00000211640	Chromatin interaction
ENSG00000254308	Chromatin interaction

Extended variants
information (count: 392 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2073446	0.84[CEU][hapmap]
rs2073448	0.84[CEU][hapmap]
rs2213148	0.89[CEU][hapmap];1.00[GIH][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213160	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4287862	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821795	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5750570	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757008	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757066	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757120	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5757323	0.84[CEU][hapmap]
rs728725	0.88[CEU][hapmap]
rs738885	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738902	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs762469	0.94[CEU][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs987708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:376 , 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	esv2422394	chr22:22220046-22543157	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
19	nsv1062823	chr22:22272078-22541865	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	nsv914476	chr22:22300941-22517826	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
35	nsv914477	chr22:22300941-22518517	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
36	nsv914478	chr22:22300941-22520067	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription 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	44 gene(s)	inside rSNPs	diseases
37	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
38	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
39	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
40	nsv1060024	chr22:22306272-22548773	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription 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	46 gene(s)	inside rSNPs	diseases
41	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
42	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
43	nsv914483	chr22:22307381-22517673	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
44	nsv914484	chr22:22307381-22517826	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
45	nsv914485	chr22:22307381-22518517	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
46	nsv914486	chr22:22307381-22519771	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
47	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
48	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
49	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
50	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4821790	DGCR11	cis	cerebellum	SCAN
rs4821790	UFD1L	cis	parietal	SCAN
rs4821790	POM121L9P	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22508400-22514600	Enhancers	Primary B cells from peripheral blood	blood
2	chr22:22510200-22511400	Enhancers	GM12878-XiMat	blood
3	chr22:22510400-22518600	Weak transcription	Right Atrium	heart
4	chr22:22510800-22512000	Enhancers	Dnd41	blood
5	chr22:22510800-22514400	Enhancers	Primary B cells from cord blood	blood
6	chr22:22511200-22511400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:22511200-22511400	Active TSS	Adipose Nuclei	Adipose
8	chr22:22511200-22511400	Active TSS	HepG2	liver
9	chr22:22511200-22511600	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr22:22511200-22511600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr22:22511200-22511800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr22:22511200-22511800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr22:22511200-22511800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:22511200-22511800	Active TSS	Duodenum Mucosa	Duodenum
15	chr22:22511200-22511800	Enhancers	Fetal Thymus	thymus
16	chr22:22511200-22512000	Enhancers	Primary monocytes fromperipheralblood	blood

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