Variant report

Variant	rs36222428
Chromosome Location	chr6:26365326-26365327
allele	C/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	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	GTF2F1	chr6:26365259-26365764	K562	blood:	n/a	n/a
4	MYBL2	chr6:26365071-26365938	HepG2	liver:	n/a	n/a
5	BHLHE40	chr6:26365117-26365960	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:26365146-26365988	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:26365167-26365938	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr6:26365269-26365807	U87	brain:	n/a	n/a
9	TEAD4	chr6:26365047-26365937	HepG2	liver:	n/a	n/a
10	CREB1	chr6:26365100-26365708	ECC-1	luminal epithelium:	n/a	n/a
11	FOXA1	chr6:26365026-26365996	HepG2	liver:	n/a	chr6:26365455-26365467
12	MAX	chr6:26365002-26366092	HepG2	liver:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
13	MYC	chr6:26365225-26365978	K562	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
14	MYC	chr6:26365272-26365978	MCF10A-Er-Src	breast:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
15	POLR2A	chr6:26365152-26365975	GM12892	blood:	n/a	n/a
16	USF2	chr6:26365236-26365934	Hela-S3	cervix:	n/a	n/a
17	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
18	POLR2A	chr6:26365119-26365921	K562	blood:	n/a	n/a
19	RFX5	chr6:26364506-26366305	K562	blood:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
20	SP1	chr6:26365047-26366046	HCT-116	colon:	n/a	chr6:26365392-26365413
21	FOXA1	chr6:26365210-26365929	HepG2	liver:	n/a	chr6:26365455-26365467
22	CREB1	chr6:26365230-26365500	A549	lung:	n/a	n/a
23	MAZ	chr6:26365220-26365881	GM12878	blood:	n/a	chr6:26365784-26365791 chr6:26365782-26365793 chr6:26365783-26365792
24	MAFK	chr6:26365259-26365825	K562	blood:	n/a	n/a
25	MXI1	chr6:26365119-26366010	GM12878	blood:	n/a	chr6:26365782-26365791
26	POLR2A	chr6:26365157-26365880	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr6:26365178-26365706	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:26365296-26365799	K562	blood:	n/a	n/a
29	MXI1	chr6:26364117-26367241	SK-N-SH	brain:	n/a	chr6:26365782-26365791
30	POLR2A	chr6:26365227-26365728	HUVEC	blood vessel:	n/a	n/a
31	EP300	chr6:26365025-26365596	K562	blood:	n/a	chr6:26365327-26365341 chr6:26365465-26365479
32	RFX5	chr6:26362983-26367827	IMR90	lung:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
33	CUX1	chr6:26364934-26365877	K562	blood:	n/a	n/a
34	POLR2A	chr6:26365184-26365805	GM12891	blood:	n/a	n/a
35	MYC	chr6:26365046-26365993	NB4	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
36	POLR2A	chr6:26365244-26365861	HepG2	liver:	n/a	n/a
37	CREB1	chr6:26365060-26365967	HepG2	liver:	n/a	n/a
38	BRCA1	chr6:26365271-26365539	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:26365265-26365660	MCF10A-Er-Src	breast:	n/a	n/a
40	MAFK	chr6:26365294-26365491	HepG2	liver:	n/a	n/a
41	MXI1	chr6:26364884-26365887	Hela-S3	cervix:	n/a	chr6:26365782-26365791
42	RFX5	chr6:26364327-26366044	H1-hESC	embryonic stem cell:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
43	ELF1	chr6:26365302-26365852	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:26365016-26366029	HL-60	blood:	n/a	n/a
45	POLR2A	chr6:26365101-26365780	HepG2	liver:	n/a	n/a
46	IRF4	chr6:26365179-26365886	GM12878	blood:	n/a	chr6:26365320-26365341
47	FOXA1	chr6:26365170-26365889	HepG2	liver:	n/a	chr6:26365455-26365467
48	BHLHE40	chr6:26365236-26365939	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:26365128-26366083	GM12892	blood:	n/a	n/a
50	HEY1	chr6:26365268-26365952	K562	blood:	n/a	chr6:26365783-26365792

No.	Distal block	Cell Line	Cell type
1	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
2	chr6:26363140..26366680-chr6:26382117..26385194,3	MCF-7	breast:
3	chr6:26365183..26366783-chr6:26383299..26386049,2	K562	blood:
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
ENSG00000228223	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000197846	Chromatin interaction

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

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

rs_ID	r²[population]
rs36222431	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55807624	1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383176	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736221	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	0.85[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:121 , 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	chr6:26364200-26366000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:26364400-26365800	Active TSS	HSMM	muscle
5	chr6:26364400-26366000	Active TSS	Brain Anterior Caudate	brain
6	chr6:26364400-26366200	Active TSS	Stomach Smooth Muscle	stomach
7	chr6:26364600-26365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:26364600-26365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:26364600-26365800	Active TSS	Aorta	Aorta
10	chr6:26364600-26366000	Active TSS	Brain Substantia Nigra	brain
11	chr6:26364600-26366800	Active TSS	Right Atrium	heart
12	chr6:26364600-26366800	Active TSS	Right Ventricle	heart
13	chr6:26364800-26365400	Weak transcription	Esophagus	oesophagus
14	chr6:26364800-26365400	Weak transcription	Gastric	stomach
15	chr6:26364800-26365400	Weak transcription	Pancreas	Pancrea
16	chr6:26364800-26365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:26364800-26365400	Weak transcription	Small Intestine	intestine
18	chr6:26364800-26365600	Active TSS	Fetal Brain Male	brain
19	chr6:26364800-26365800	Active TSS	Fetal Brain Female	brain
20	chr6:26364800-26365800	Bivalent/Poised TSS	HepG2	liver
21	chr6:26364800-26366000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:26364800-26366000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:26364800-26366000	Active TSS	Brain Angular Gyrus	brain
24	chr6:26364800-26366000	Active TSS	Colonic Mucosa	Colon
25	chr6:26364800-26366000	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:26364800-26366000	Active TSS	Fetal Stomach	stomach
27	chr6:26364800-26366000	Active TSS	Ovary	ovary
28	chr6:26364800-26366000	Active TSS	Psoas Muscle	Psoas
29	chr6:26364800-26366000	Active TSS	Stomach Mucosa	stomach
30	chr6:26364800-26366200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:26364800-26366200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:26364800-26366200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:26364800-26366200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:26364800-26366200	Active TSS	Fetal Muscle Leg	muscle
35	chr6:26364800-26366200	Active TSS	Placenta	Placenta
36	chr6:26364800-26366200	Active TSS	A549	lung
37	chr6:26364800-26366200	Active TSS	HMEC	breast
38	chr6:26364800-26366400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:26364800-26366400	Active TSS	K562	blood
40	chr6:26364800-26366400	Active TSS	NHLF	lung
41	chr6:26364800-26366800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:26364800-26366800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:26364800-26366800	Weak transcription	Spleen	Spleen
44	chr6:26364800-26367600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:26365000-26365400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:26365000-26365400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:26365000-26365600	Active TSS	Primary B cells from cord blood	blood
48	chr6:26365000-26365800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:26365000-26365800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:26365000-26365800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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