Variant report

Variant	rs36222431
Chromosome Location	chr6:26365138-26365139
allele	A/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	CREB1	chr6:26364935-26366049	K562	blood:	n/a	n/a
2	MAX	chr6:26365121-26365942	K562	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
3	MYBL2	chr6:26365071-26365938	HepG2	liver:	n/a	n/a
4	BHLHE40	chr6:26365117-26365960	GM12878	blood:	n/a	n/a
5	TEAD4	chr6:26365047-26365937	HepG2	liver:	n/a	n/a
6	CREB1	chr6:26365100-26365708	ECC-1	luminal epithelium:	n/a	n/a
7	FOXA1	chr6:26365026-26365996	HepG2	liver:	n/a	chr6:26365455-26365467
8	MAX	chr6:26365002-26366092	HepG2	liver:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
9	IRF1	chr6:26364651-26366119	K562	blood:	n/a	chr6:26365322-26365336 chr6:26365325-26365337 chr6:26365462-26365473 chr6:26365324-26365335 chr6:26365326-26365336 chr6:26365325-26365339 chr6:26365326-26365340 chr6:26365464-26365474 chr6:26365324-26365344 chr6:26365320-26365341 chr6:26365460-26365474 chr6:26365325-26365336 chr6:26365325-26365337 chr6:26365464-26365478
10	POLR2A	chr6:26365119-26365921	K562	blood:	n/a	n/a
11	RFX5	chr6:26364506-26366305	K562	blood:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
12	SP1	chr6:26365047-26366046	HCT-116	colon:	n/a	chr6:26365392-26365413
13	MXI1	chr6:26365119-26366010	GM12878	blood:	n/a	chr6:26365782-26365791
14	MXI1	chr6:26364117-26367241	SK-N-SH	brain:	n/a	chr6:26365782-26365791
15	EP300	chr6:26365025-26365596	K562	blood:	n/a	chr6:26365327-26365341 chr6:26365465-26365479
16	RFX5	chr6:26362983-26367827	IMR90	lung:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
17	CUX1	chr6:26364934-26365877	K562	blood:	n/a	n/a
18	MYC	chr6:26365046-26365993	NB4	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
19	CREB1	chr6:26365060-26365967	HepG2	liver:	n/a	n/a
20	MXI1	chr6:26364884-26365887	Hela-S3	cervix:	n/a	chr6:26365782-26365791
21	RFX5	chr6:26364327-26366044	H1-hESC	embryonic stem cell:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
22	POLR2A	chr6:26365016-26366029	HL-60	blood:	n/a	n/a
23	POLR2A	chr6:26365101-26365780	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:26365128-26366083	GM12892	blood:	n/a	n/a
25	MAX	chr6:26365015-26366057	HCT-116	colon:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
26	MXI1	chr6:26364913-26366419	IMR90	lung:	n/a	chr6:26365782-26365791
27	NFIC	chr6:26364948-26366079	GM12878	blood:	n/a	n/a
28	MTA3	chr6:26364990-26366056	GM12878	blood:	n/a	n/a
29	HEY1	chr6:26365005-26365791	HepG2	liver:	n/a	n/a
30	CREB1	chr6:26365076-26365921	GM12878	blood:	n/a	n/a
31	RFX5	chr6:26362934-26367943	SK-N-SH	brain:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
32	CREB1	chr6:26364896-26365921	GM12878	blood:	n/a	n/a
33	PRDM1	chr6:26364910-26365921	Hela-S3	cervix:	n/a	chr6:26365461-26365475 chr6:26365323-26365337 chr6:26365460-26365475
34	FOXA1	chr6:26365018-26365958	HepG2	liver:	n/a	chr6:26365455-26365467
35	MXI1	chr6:26365091-26365890	HepG2	liver:	n/a	chr6:26365782-26365791
36	RUNX3	chr6:26365067-26366069	GM12878	blood:	n/a	n/a
37	MAX	chr6:26364956-26365977	NB4	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
38	IRF1	chr6:26364536-26366099	K562	blood:	n/a	chr6:26365322-26365336 chr6:26365325-26365337 chr6:26365462-26365473 chr6:26365324-26365335 chr6:26365326-26365336 chr6:26365325-26365339 chr6:26365326-26365340 chr6:26365464-26365474 chr6:26365324-26365344 chr6:26365320-26365341 chr6:26365460-26365474 chr6:26365325-26365336 chr6:26365325-26365337 chr6:26365464-26365478
39	MYBL2	chr6:26365036-26365803	HepG2	liver:	n/a	n/a
40	FOXA2	chr6:26365137-26365893	HepG2	liver:	n/a	chr6:26365455-26365467
41	RFX5	chr6:26364309-26366049	Hela-S3	cervix:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
42	POLR2A	chr6:26365091-26365945	HCT-116	colon:	n/a	n/a
43	ARID3A	chr6:26365123-26365852	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:26364982-26366066	SK-N-MC	brain:	n/a	n/a
45	PML	chr6:26364915-26366040	GM12878	blood:	n/a	chr6:26365463-26365471
46	CREB1	chr6:26365064-26365956	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:26365026-26365741	SK-N-SH	brain:	n/a	n/a
48	MYC	chr6:26364995-26365992	K562	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
49	MXI1	chr6:26365131-26365969	K562	blood:	n/a	chr6:26365782-26365791
50	STAT3	chr6:26364861-26365617	GM12878	blood:	n/a	chr6:26365325-26365336

No.	Distal block	Cell Line	Cell type
1	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
2	chr6:26361226..26362867-chr6:26363183..26365320,2	MCF-7	breast:
3	chr6:26363140..26366680-chr6:26382117..26385194,3	MCF-7	breast:
4	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:
5	chr6:26196455..26200961-chr6:26360873..26365378,4	K562	blood:

Variant related genes	Relation type
BTN3A2	TF binding region
ENSG00000124508	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000197409	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs36222428	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55807624	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57038103	0.83[EUR][1000 genomes]
rs60978077	1.00[EUR][1000 genomes]
rs61246844	0.83[EUR][1000 genomes]
rs61607411	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383168	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383179	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383193	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736221	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73736234	0.83[EUR][1000 genomes]
rs73736235	1.00[EUR][1000 genomes]
rs73736237	0.83[EUR][1000 genomes]
rs73736241	0.83[EUR][1000 genomes]
rs73736249	1.00[EUR][1000 genomes]
rs73740106	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26356200-26365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26363400-26365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:26364200-26365200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:26364200-26365200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr6:26364200-26365200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:26364200-26365200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:26364200-26365200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:26364200-26365200	Flanking Active TSS	Dnd41	blood
9	chr6:26364200-26366000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:26364400-26365200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:26364400-26365200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:26364400-26365200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr6:26364400-26365200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr6:26364400-26365200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr6:26364400-26365200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:26364400-26365200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr6:26364400-26365200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr6:26364400-26365200	Flanking Active TSS	GM12878-XiMat	blood
19	chr6:26364400-26365800	Active TSS	HSMM	muscle
20	chr6:26364400-26366000	Active TSS	Brain Anterior Caudate	brain
21	chr6:26364400-26366200	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:26364600-26365200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:26364600-26365200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr6:26364600-26365200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:26364600-26365200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:26364600-26365200	Flanking Active TSS	Fetal Lung	lung
27	chr6:26364600-26365200	Flanking Active TSS	HUVEC	blood vessel
28	chr6:26364600-26365200	Flanking Active TSS	Osteobl	bone
29	chr6:26364600-26365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:26364600-26365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:26364600-26365800	Active TSS	Aorta	Aorta
32	chr6:26364600-26366000	Active TSS	Brain Substantia Nigra	brain
33	chr6:26364600-26366800	Active TSS	Right Atrium	heart
34	chr6:26364600-26366800	Active TSS	Right Ventricle	heart
35	chr6:26364800-26365200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr6:26364800-26365400	Weak transcription	Esophagus	oesophagus
37	chr6:26364800-26365400	Weak transcription	Gastric	stomach
38	chr6:26364800-26365400	Weak transcription	Pancreas	Pancrea
39	chr6:26364800-26365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:26364800-26365400	Weak transcription	Small Intestine	intestine
41	chr6:26364800-26365600	Active TSS	Fetal Brain Male	brain
42	chr6:26364800-26365800	Active TSS	Fetal Brain Female	brain
43	chr6:26364800-26365800	Bivalent/Poised TSS	HepG2	liver
44	chr6:26364800-26366000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:26364800-26366000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:26364800-26366000	Active TSS	Brain Angular Gyrus	brain
47	chr6:26364800-26366000	Active TSS	Colonic Mucosa	Colon
48	chr6:26364800-26366000	Active TSS	Fetal Muscle Trunk	muscle
49	chr6:26364800-26366000	Active TSS	Fetal Stomach	stomach
50	chr6:26364800-26366000	Active TSS	Ovary	ovary

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