Variant report

Variant	rs186106039
Chromosome Location	chr6:4776418-4776419
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	chr6:4776392-4776676	K562	blood:	n/a	chr6:4776603-4776617
2	POLR2A	chr6:4775427-4777680	NB4	blood:	n/a	n/a
3	POLR2A	chr6:4775593-4777225	A549	lung:	n/a	n/a
4	YY1	chr6:4776402-4776766	SK-N-SH_RA	brain:	n/a	n/a
5	SP1	chr6:4776282-4776862	A549	lung:	n/a	chr6:4776388-4776399 chr6:4776322-4776334 chr6:4776322-4776334 chr6:4776376-4776387 chr6:4776322-4776333
6	SP1	chr6:4776396-4776670	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr6:4776414-4776678	GM12878	blood:	n/a	chr6:4776518-4776532
8	RCOR1	chr6:4775994-4776849	IMR90	lung:	n/a	n/a
9	SP1	chr6:4775396-4776924	HCT-116	colon:	n/a	chr6:4776388-4776399 chr6:4776322-4776334 chr6:4776322-4776334 chr6:4776376-4776387 chr6:4776322-4776333 chr6:4776012-4776022 chr6:4776196-4776205
10	YY1	chr6:4776254-4777077	K562	blood:	n/a	n/a
11	TAF1	chr6:4776379-4776671	K562	blood:	n/a	n/a
12	YY1	chr6:4776412-4777158	HepG2	liver:	n/a	n/a
13	MAX	chr6:4774967-4777723	HepG2	liver:	n/a	chr6:4775819-4775828 chr6:4776302-4776311 chr6:4777256-4777266 chr6:4777552-4777562
14	CHD2	chr6:4775581-4776727	GM12878	blood:	n/a	chr6:4775824-4775834
15	STAT1	chr6:4776051-4776657	GM12878	blood:	n/a	n/a
16	ZNF143	chr6:4775962-4776626	H1-hESC	embryonic stem cell:	n/a	n/a
17	EGR1	chr6:4776167-4776640	K562	blood:	n/a	chr6:4776518-4776532
18	POLR2A	chr6:4775007-4777491	MCF-7	breast:	n/a	n/a
19	MAX	chr6:4776417-4776770	A549	lung:	n/a	n/a
20	SP1	chr6:4775646-4776882	HCT-116	colon:	n/a	chr6:4776388-4776399 chr6:4776322-4776334 chr6:4776322-4776334 chr6:4776376-4776387 chr6:4776322-4776333 chr6:4776012-4776022 chr6:4776196-4776205
21	MXI1	chr6:4775542-4776925	GM12878	blood:	n/a	chr6:4776030-4776039
22	E2F6	chr6:4776410-4777020	K562	blood:	n/a	n/a
23	POLR2A	chr6:4775557-4776945	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:4776349-4777668	K562	blood:	n/a	n/a
25	EGR1	chr6:4776157-4776427	K562	blood:	n/a	n/a
26	MAZ	chr6:4775403-4777742	GM12878	blood:	n/a	chr6:4775819-4775828 chr6:4776302-4776311 chr6:4777256-4777266
27	POLR2A	chr6:4775955-4776685	H1-hESC	embryonic stem cell:	n/a	n/a
28	IRF1	chr6:4776178-4776751	K562	blood:	n/a	chr6:4776322-4776336
29	E2F6	chr6:4776401-4776616	K562	blood:	n/a	n/a
30	POLR2A	chr6:4776412-4777222	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr6:4775555-4777837	GM15510	blood:	n/a	n/a
32	BHLHE40	chr6:4775622-4776738	GM12878	blood:	n/a	chr6:4776143-4776159 chr6:4776135-4776151 chr6:4775989-4776005 chr6:4775829-4775845
33	CREB1	chr6:4775487-4777065	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:4776411-4776987	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:4775930-4776501	H1-hESC	embryonic stem cell:	n/a	chr6:4776302-4776311
36	EP300	chr6:4775425-4776483	ECC-1	luminal epithelium:	n/a	chr6:4776041-4776050 chr6:4776082-4776098
37	POLR2A	chr6:4775668-4777730	GM18951	blood:	n/a	n/a
38	POLR2A	chr6:4775342-4777011	MCF-7	breast:	n/a	n/a
39	RCOR1	chr6:4776040-4776926	HepG2	liver:	n/a	n/a
40	E2F6	chr6:4776148-4777017	K562	blood:	n/a	n/a
41	MAX	chr6:4775253-4776912	HCT-116	colon:	n/a	chr6:4775819-4775828 chr6:4776302-4776311
42	SP1	chr6:4776378-4776684	K562	blood:	n/a	chr6:4776388-4776399
43	POLR2A	chr6:4775605-4777703	GM19193	blood:	n/a	n/a
44	MAZ	chr6:4775495-4776996	HepG2	liver:	n/a	chr6:4775819-4775828 chr6:4776302-4776311
45	POLR2A	chr6:4776031-4777014	IMR90	lung:	n/a	n/a
46	RUNX3	chr6:4776398-4777030	GM12878	blood:	n/a	n/a
47	JUND	chr6:4775662-4776861	A549	lung:	n/a	chr6:4776558-4776572
48	RAD21	chr6:4775736-4776954	IMR90	lung:	n/a	chr6:4776490-4776502 chr6:4775990-4776004
49	POLR2A	chr6:4775989-4776504	A549	lung:	n/a	n/a
50	TAF1	chr6:4775761-4777066	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4775417..4779410-chr6:4834974..4837006,3	MCF-7	breast:
2	chr6:4776139..4778956-chr6:5002447..5004557,2	K562	blood:
3	chr6:4775727..4780301-chr6:4925378..4930668,5	K562	blood:
4	chr6:4775959..4776581-chr6:4790810..4791474,2	K562	blood:
5	chr6:4775660..4776622-chr6:5030960..5031503,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236336	TF binding region
CDYL	TF binding region
ENSG00000153046	Chromatin interaction
ENSG00000124787	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3358796	chr6:4775353-4778326	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3405553	chr6:4775578-4778126	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3438069	chr6:4775703-4778001	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3445880	chr6:4775978-4778526	Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr6:4772800-4777200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:4772800-4777800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:4773000-4777400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:4773000-4777600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:4773200-4777400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:4773200-4777400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:4773200-4777400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:4773200-4777600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:4773200-4778200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:4774200-4778000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:4774600-4777400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:4774800-4777800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr6:4774800-4778000	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:4775000-4777000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:4775000-4777000	Active TSS	Placenta Amnion	Placenta Amnion
16	chr6:4775000-4777600	Active TSS	Brain Substantia Nigra	brain
17	chr6:4775000-4777800	Active TSS	Brain Angular Gyrus	brain
18	chr6:4775000-4777800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:4775000-4777800	Active TSS	Colon Smooth Muscle	Colon
20	chr6:4775000-4777800	Active TSS	Esophagus	oesophagus
21	chr6:4775000-4777800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:4775000-4777800	Active TSS	Gastric	stomach
23	chr6:4775000-4777800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr6:4775000-4777800	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:4775000-4778000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:4775000-4778000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:4775000-4778000	Active TSS	Ovary	ovary
28	chr6:4775000-4778400	Active TSS	Brain Cingulate Gyrus	brain
29	chr6:4775000-4778400	Active TSS	A549	lung
30	chr6:4775200-4777600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:4775200-4777600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:4775200-4777600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:4775200-4777800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:4775200-4777800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:4775200-4778000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:4775200-4778000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:4775200-4778000	Active TSS	Psoas Muscle	Psoas
38	chr6:4775200-4778400	Active TSS	Aorta	Aorta
39	chr6:4775400-4777800	Active TSS	Brain Hippocampus Middle	brain
40	chr6:4775400-4777800	Active TSS	Lung	lung
41	chr6:4775400-4777800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:4775400-4778000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr6:4775400-4778000	Active TSS	Small Intestine	intestine
44	chr6:4775600-4777000	Active TSS	Spleen	Spleen
45	chr6:4775600-4777400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:4775600-4777600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr6:4775600-4777600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:4775600-4777600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:4775600-4777800	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:4775600-4777800	Active TSS	Muscle Satellite Cultured Cells	--

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