Variant report

Variant	rs384262
Chromosome Location	chr22:22012772-22012773
allele	A/G
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	CHD2	chr22:22011037-22012814	K562	blood:	n/a	chr22:22011872-22011882
2	POLR2A	chr22:22010757-22013057	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:22010788-22012887	K562	blood:	n/a	n/a
4	BACH1	chr22:22012764-22012964	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr22:22011460-22013054	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:22010937-22013070	ECC-1	luminal epithelium:	n/a	n/a
7	ELF1	chr22:22012646-22013065	K562	blood:	n/a	n/a
8	POLR2A	chr22:22012433-22012793	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:22010706-22013104	K562	blood:	n/a	n/a
10	GTF2F1	chr22:22012569-22012866	H1-hESC	embryonic stem cell:	n/a	n/a
11	GABPA	chr22:22010948-22013121	K562	blood:	n/a	chr22:22011787-22011801 chr22:22011842-22011851
12	POLR2A	chr22:22011133-22012851	HUVEC	blood vessel:	n/a	n/a
13	ELF1	chr22:22011494-22012866	K562	blood:	n/a	chr22:22011869-22011881 chr22:22011993-22012005
14	POLR2A	chr22:22012367-22012791	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr22:22011706-22012776	HepG2	liver:	n/a	n/a
16	TEAD4	chr22:22010067-22013120	K562	blood:	n/a	n/a
17	CEBPB	chr22:22012408-22012821	MCF-7	breast:	n/a	n/a
18	POLR2A	chr22:22011259-22012988	GM12878	blood:	n/a	n/a
19	SETDB1	chr22:22011298-22012843	K562	blood:	n/a	n/a
20	MAX	chr22:22011618-22012814	SK-N-SH	brain:	n/a	n/a
21	E2F6	chr22:22011463-22013037	H1-hESC	embryonic stem cell:	n/a	chr22:22011842-22011851 chr22:22012323-22012335 chr22:22011968-22011977 chr22:22011879-22011888 chr22:22012195-22012209
22	POLR2A	chr22:22010868-22012940	K562	blood:	n/a	n/a
23	TEAD4	chr22:22010722-22013097	K562	blood:	n/a	n/a
24	TBP	chr22:22012084-22012958	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr22:22010892-22012963	GM19099	blood:	n/a	n/a
26	MYC	chr22:22011171-22012826	NB4	blood:	n/a	n/a
27	MAX	chr22:22012371-22012858	MCF-7	breast:	n/a	n/a
28	POLR2A	chr22:22010732-22012984	K562	blood:	n/a	n/a
29	MAX	chr22:22011576-22012891	ECC-1	luminal epithelium:	n/a	n/a
30	ZNF143	chr22:22011313-22012954	H1-hESC	embryonic stem cell:	n/a	chr22:22012390-22012408
31	POLR2A	chr22:22010977-22012880	GM18951	blood:	n/a	n/a
32	POLR2A	chr22:22011229-22012802	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr22:22010774-22013018	K562	blood:	n/a	n/a
34	POLR2A	chr22:22010926-22013030	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3A	chr22:22011253-22012991	H1-hESC	embryonic stem cell:	n/a	chr22:22011752-22011763 chr22:22012319-22012330
36	HDAC2	chr22:22010758-22012993	K562	blood:	n/a	n/a
37	POLR2A	chr22:22010837-22012779	GM12892	blood:	n/a	n/a
38	MAX	chr22:22010771-22012997	K562	blood:	n/a	n/a
39	MAX	chr22:22012397-22012839	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr22:22012386-22012819	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr22:22010987-22012811	GM19193	blood:	n/a	n/a
42	NR2F2	chr22:22010414-22013006	K562	blood:	n/a	n/a
43	MAX	chr22:22011387-22013058	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr22:22010786-22013047	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr22:22011184-22012861	HCT-116	colon:	n/a	n/a
46	HMGN3	chr22:22011236-22012874	K562	blood:	n/a	n/a
47	YY1	chr22:22011270-22012927	K562	blood:	n/a	chr22:22012300-22012311 chr22:22011840-22011854 chr22:22012302-22012311 chr22:22011917-22011926 chr22:22011879-22011888 chr22:22011842-22011851 chr22:22011752-22011763
48	POLR2A	chr22:22011217-22012879	ECC-1	luminal epithelium:	n/a	n/a
49	HEY1	chr22:22012368-22013042	K562	blood:	n/a	n/a
50	SP2	chr22:22012425-22013014	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22011842..22015116-chr22:22321184..22324268,3	K562	blood:
2	chr22:22011088..22014764-chr22:22088779..22092551,4	K562	blood:
3	chr22:21992086..21994401-chr22:22010428..22012823,2	MCF-7	breast:
4	chr22:22011595..22013353-chr22:22082814..22084331,2	K562	blood:
5	chr22:21982609..21984758-chr22:22010076..22013251,4	MCF-7	breast:
6	chr22:22011149..22013585-chr22:22335702..22337428,2	K562	blood:
7	chr22:22009565..22013226-chr22:22291661..22294169,4	K562	blood:

Variant related genes	Relation type
ENSG00000272954	TF binding region
ENSG00000224086	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10009	0.89[CEU][hapmap]
rs1045681	0.92[CEU][hapmap]
rs108816	0.84[CEU][hapmap]
rs11089647	0.81[CEU][hapmap]
rs11089651	0.81[EUR][1000 genomes]
rs11703445	0.88[CEU][hapmap]
rs1210407	0.81[ASN][1000 genomes]
rs1860	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs35445502	0.83[ASN][1000 genomes]
rs374659	0.83[JPT][hapmap]
rs3747094	0.92[CEU][hapmap]
rs3788329	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs3804071	0.81[CEU][hapmap]
rs381713	0.83[JPT][hapmap]
rs388113	0.83[JPT][hapmap]
rs388371	0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs390720	0.81[ASN][1000 genomes]
rs391324	0.83[ASN][1000 genomes]
rs394073	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs395006	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs402548	0.81[ASN][1000 genomes]
rs403642	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs403865	0.81[ASN][1000 genomes]
rs409796	0.82[ASN][1000 genomes]
rs412596	0.83[JPT][hapmap]
rs416661	0.81[JPT][hapmap]
rs428595	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs429623	0.81[ASN][1000 genomes]
rs433704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443845	0.82[ASN][1000 genomes]
rs447001	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs452649	0.81[JPT][hapmap]
rs45502092	0.84[EUR][1000 genomes]
rs5998956	0.82[EUR][1000 genomes]
rs710172	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs861836	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9941935	0.88[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	374 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	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
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
16	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22007600-22019800	Weak transcription	Fetal Heart	heart
2	chr22:22011000-22012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:22011000-22012800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:22011000-22012800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:22011200-22012800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr22:22011200-22013000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr22:22011200-22013000	Enhancers	Fetal Brain Male	brain
8	chr22:22011400-22012800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr22:22011400-22012800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr22:22011400-22012800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr22:22011400-22012800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr22:22011400-22012800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr22:22011400-22012800	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr22:22011400-22012800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:22011400-22012800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr22:22011400-22012800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr22:22011400-22012800	Active TSS	Osteobl	bone
18	chr22:22011400-22013000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr22:22011600-22012800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr22:22011600-22012800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:22011600-22012800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:22011600-22012800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:22011600-22012800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:22011600-22012800	Active TSS	HSMM	muscle
25	chr22:22011600-22013200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:22011800-22012800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:22011800-22013000	Active TSS	Esophagus	oesophagus
28	chr22:22011800-22013000	Active TSS	GM12878-XiMat	blood
29	chr22:22012000-22012800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:22012000-22012800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr22:22012000-22013000	Flanking Active TSS	K562	blood
32	chr22:22012200-22012800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr22:22012200-22012800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr22:22012200-22012800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr22:22012400-22012800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:22012400-22012800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:22012400-22012800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr22:22012400-22012800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr22:22012400-22012800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:22012400-22012800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr22:22012400-22012800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:22012400-22012800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:22012400-22012800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:22012400-22012800	Enhancers	Brain Angular Gyrus	brain
45	chr22:22012400-22012800	Enhancers	Gastric	stomach
46	chr22:22012400-22012800	Enhancers	Left Ventricle	heart
47	chr22:22012400-22012800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
48	chr22:22012400-22012800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
49	chr22:22012400-22012800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr22:22012400-22012800	Enhancers	HMEC	breast

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