Variant report

Variant	rs369636523
Chromosome Location	chr6:131383882-131383883
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	MAX	chr6:131383524-131385283	A549	lung:	n/a	chr6:131383712-131383721
2	CCNT2	chr6:131383489-131384716	K562	blood:	n/a	chr6:131384133-131384142
3	BACH1	chr6:131383421-131384032	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:131383804-131383926	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr6:131382443-131385497	IMR90	lung:	n/a	chr6:131383712-131383721
6	MAZ	chr6:131383386-131385101	HepG2	liver:	n/a	chr6:131383712-131383721
7	MAX	chr6:131383494-131383982	Hela-S3	cervix:	n/a	chr6:131383712-131383721
8	MYC	chr6:131383750-131383915	MCF10A-Er-Src	breast:	n/a	n/a
9	REST	chr6:131383804-131384036	PANC-1	pancreas:	n/a	chr6:131383995-131384008
10	ZBTB7A	chr6:131383355-131384693	ECC-1	luminal epithelium:	n/a	chr6:131383669-131383678 chr6:131384121-131384129
11	MAX	chr6:131383430-131384032	K562	blood:	n/a	chr6:131383712-131383721
12	MAZ	chr6:131383468-131385208	K562	blood:	n/a	chr6:131383712-131383721
13	UBTF	chr6:131383397-131384719	K562	blood:	n/a	n/a
14	ELF1	chr6:131383304-131384691	GM12878	blood:	n/a	chr6:131384158-131384170
15	MAX	chr6:131383321-131385376	HepG2	liver:	n/a	chr6:131383712-131383721
16	ELF1	chr6:131383847-131385024	HepG2	liver:	n/a	chr6:131384158-131384170
17	POLR2A	chr6:131383389-131383934	MCF-7	breast:	n/a	n/a
18	MAZ	chr6:131383400-131385207	GM12878	blood:	n/a	chr6:131383712-131383721
19	TCF12	chr6:131383696-131384904	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr6:131383349-131384049	ECC-1	luminal epithelium:	n/a	chr6:131383712-131383721
21	MXI1	chr6:131380933-131385493	IMR90	lung:	n/a	n/a
22	RAD21	chr6:131383034-131384949	IMR90	lung:	n/a	chr6:131383421-131383431 chr6:131383419-131383432 chr6:131383661-131383675
23	POLR2A	chr6:131383553-131385175	GM19099	blood:	n/a	n/a
24	MAX	chr6:131383360-131385273	ECC-1	luminal epithelium:	n/a	chr6:131383712-131383721
25	E2F6	chr6:131383532-131383900	K562	blood:	n/a	chr6:131383856-131383863 chr6:131383724-131383733 chr6:131383856-131383863 chr6:131383856-131383863 chr6:131383670-131383679
26	ELF1	chr6:131383752-131384701	K562	blood:	n/a	chr6:131384158-131384170
27	ZBTB7A	chr6:131383573-131384681	K562	blood:	n/a	chr6:131383669-131383678 chr6:131384121-131384129
28	POLR2A	chr6:131383145-131384910	GM18951	blood:	n/a	n/a
29	TFAP2C	chr6:131383414-131385249	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr6:131383497-131384973	Hela-S3	cervix:	n/a	chr6:131383712-131383721
31	ZBTB7A	chr6:131383731-131384849	ECC-1	luminal epithelium:	n/a	chr6:131384121-131384129
32	ELF1	chr6:131383877-131384123	K562	blood:	n/a	n/a
33	MAX	chr6:131383425-131385031	NB4	blood:	n/a	chr6:131383712-131383721
34	TAF1	chr6:131383764-131384578	ECC-1	luminal epithelium:	n/a	n/a
35	MYC	chr6:131383279-131384940	NB4	blood:	n/a	chr6:131383712-131383721
36	HDAC2	chr6:131383462-131385071	HepG2	liver:	n/a	n/a
37	ZNF263	chr6:131383454-131385113	HEK293-T-REx	kidney:	n/a	chr6:131384359-131384368
38	MAX	chr6:131383724-131383934	K562	blood:	n/a	n/a
39	HMGN3	chr6:131383374-131384727	K562	blood:	n/a	n/a
40	TAF1	chr6:131383727-131385125	ECC-1	luminal epithelium:	n/a	n/a
41	SIN3A	chr6:131383393-131384995	H1-hESC	embryonic stem cell:	n/a	chr6:131383998-131384011 chr6:131383418-131383429 chr6:131383664-131383675
42	GABPA	chr6:131383842-131384757	MCF-7	breast:	n/a	chr6:131384133-131384142
43	GABPA	chr6:131383730-131384078	K562	blood:	n/a	n/a
44	MYC	chr6:131383517-131383960	K562	blood:	n/a	chr6:131383712-131383721
45	BHLHE40	chr6:131383457-131385300	GM12878	blood:	n/a	chr6:131384337-131384353 chr6:131383665-131383681 chr6:131384339-131384355 chr6:131384344-131384360 chr6:131383654-131383670 chr6:131383662-131383678
46	MYC	chr6:131383405-131383958	MCF-7	breast:	n/a	chr6:131383712-131383721
47	SIN3AK20	chr6:131383310-131384753	PANC-1	pancreas:	n/a	n/a
48	MAX	chr6:131383406-131383965	GM12878	blood:	n/a	chr6:131383712-131383721
49	YY1	chr6:131383698-131384741	HepG2	liver:	n/a	chr6:131383717-131383728 chr6:131384345-131384359 chr6:131384572-131384583 chr6:131384133-131384142 chr6:131384339-131384353 chr6:131383807-131383821 chr6:131383812-131383821
50	CHD1	chr6:131382935-131384438	GM12878	blood:	n/a	chr6:131384131-131384141

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131383272..131386235-chr6:131948272..131950497,3	MCF-7	breast:

Variant related genes	Relation type
EPB41L2	TF binding region
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3370421	chr6:131383359-131385457	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131381600-131384800	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:131381600-131385000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:131381800-131384600	Active TSS	NHLF	lung
4	chr6:131381800-131384800	Active TSS	Brain Angular Gyrus	brain
5	chr6:131381800-131385000	Active TSS	Ovary	ovary
6	chr6:131381800-131385200	Active TSS	Brain Anterior Caudate	brain
7	chr6:131382000-131384800	Active TSS	A549	lung
8	chr6:131382000-131385000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:131382000-131385000	Active TSS	Brain Substantia Nigra	brain
10	chr6:131382200-131384800	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:131382200-131384800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:131382200-131384800	Active TSS	Fetal Muscle Trunk	muscle
13	chr6:131382200-131385000	Active TSS	Right Atrium	heart
14	chr6:131382200-131385200	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:131382400-131384600	Active TSS	Colonic Mucosa	Colon
16	chr6:131382400-131384800	Active TSS	Colon Smooth Muscle	Colon
17	chr6:131382600-131384200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:131382600-131384800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:131382600-131384800	Active TSS	Fetal Intestine Small	intestine
20	chr6:131382600-131384800	Active TSS	Left Ventricle	heart
21	chr6:131382600-131385000	Active TSS	Fetal Kidney	kidney
22	chr6:131382600-131385200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:131382600-131385200	Active TSS	Right Ventricle	heart
24	chr6:131382800-131384200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr6:131382800-131384200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr6:131382800-131384400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr6:131382800-131384600	Active TSS	K562	blood
28	chr6:131382800-131384800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:131382800-131385000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:131382800-131385200	Active TSS	Aorta	Aorta
31	chr6:131383000-131384600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:131383000-131384600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr6:131383000-131384600	Active TSS	GM12878-XiMat	blood
34	chr6:131383000-131384600	Active TSS	HSMMtube	muscle
35	chr6:131383000-131384800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:131383000-131384800	Active TSS	Brain Hippocampus Middle	brain
37	chr6:131383000-131384800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:131383000-131384800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:131383000-131384800	Active TSS	Fetal Intestine Large	intestine
40	chr6:131383000-131384800	Active TSS	Fetal Lung	lung
41	chr6:131383000-131384800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr6:131383000-131384800	Active TSS	HSMM	muscle
43	chr6:131383000-131384800	Active TSS	NHDF-Ad	bronchial
44	chr6:131383000-131384800	Active TSS	Osteobl	bone
45	chr6:131383000-131385000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:131383000-131385000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:131383000-131385000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:131383000-131385000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:131383000-131385000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:131383000-131385000	Active TSS	Lung	lung

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