Variant report

Variant	rs9368697
Chromosome Location	chr6:31760309-31760310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:31760277-31761146	HCT-116	colon:	n/a	chr6:31760403-31760413
2	USF1	chr6:31760214-31761054	HCT-116	colon:	n/a	n/a
3	POLR2A	chr6:31760067-31760811	K562	blood:	n/a	n/a
4	POLR2A	chr6:31759184-31761108	K562	blood:	n/a	n/a
5	USF1	chr6:31760291-31761141	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31760288-31760338	NT2-D1	testis:	n/a
2	chr6:31760288-31760338	SAEC	small airway:	n/a
3	chr6:31760288-31760338	GM19239	blood:	n/a
4	chr6:31760288-31760338	K562	blood:	n/a
5	chr6:31760288-31760338	HepG2	liver:	n/a
6	chr6:31760288-31760338	Hepatocyte	liver:	n/a
7	chr6:31760288-31760338	Caco-2	colon:	n/a
8	chr6:31760288-31760338	ECC-1	luminal epithelium:	n/a
9	chr6:31760288-31760338	MCF-7	breast:	n/a
10	chr6:31760288-31760338	HCM	heart:	n/a
11	chr6:31760288-31760338	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:31760288-31760338	SKMC	muscle:	n/a
13	chr6:31760288-31760338	HMEC	breast:	n/a
14	chr6:31760288-31760338	BJ	skin:	n/a
15	chr6:31760288-31760338	H1-hESC	embryonic stem cell:	embryo
16	chr6:31760288-31760338	RPTEC	kidney:	n/a
17	chr6:31760288-31760338	ProgFib	skin:	n/a
18	chr6:31760288-31760338	T-47D	breast:	n/a
19	chr6:31760288-31760338	HEEpiC	esophagus:	n/a
20	chr6:31760288-31760338	PFSK-1	brain:	n/a
21	chr6:31760288-31760338	LNCaP	prostate:	n/a
22	chr6:31760288-31760338	MCF10A-Er-Src	breast:	n/a
23	chr6:31760288-31760338	AG04450	lung:	fetal
24	chr6:31760288-31760338	HRE	kidney:	n/a
25	chr6:31760288-31760338	HUVEC	blood vessel:	n/a
26	chr6:31760288-31760338	Hela-S3	cervix:	n/a
27	chr6:31760288-31760338	HCT-116	colon:	n/a
28	chr6:31760288-31760338	NHBE	bronchial:	n/a
29	chr6:31760288-31760338	IMR90	lung:	fetal
30	chr6:31760288-31760338	AG10803	skin:	n/a
31	chr6:31760288-31760338	HNPCEpiC	eye:	n/a
32	chr6:31760288-31760338	PANC-1	pancreas:	n/a
33	chr6:31760288-31760338	GM12878	blood:	n/a
34	chr6:31760288-31760338	ovcar-3	ovarian:	n/a
35	chr6:31760288-31760338	CMK	blood:	n/a
36	chr6:31760288-31760338	Jurkat	blood:	n/a
37	chr6:31760288-31760338	NHDF-neo	bronchial:	n/a
38	chr6:31760288-31760338	HL-60	blood:	n/a
39	chr6:31760288-31760338	AG09309	skin:	n/a
40	chr6:31760288-31760338	SK-N-MC	brain:	n/a
41	chr6:31760288-31760338	NB4	blood:	n/a
42	chr6:31760288-31760338	SK-N-SH	brain:	n/a
43	chr6:31760288-31760338	GM12891	blood:	n/a
44	chr6:31760288-31760338	HEK293	kidney:	embryo
45	chr6:31760288-31760338	PrEC	prostate:	n/a
46	chr6:31760288-31760338	HIPEpiC	eye:	n/a
47	chr6:31760288-31760338	U87	brain:	n/a
48	chr6:31760288-31760338	AG04449	skin:	fetal
49	chr6:31760288-31760338	HCPEpiC	choroid plexus:	n/a
50	chr6:31760288-31760338	NH-A	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31759482..31765185-chr6:31781824..31784897,13	MCF-7	breast:
2	chr6:31702768..31704359-chr6:31759116..31761149,2	MCF-7	breast:
3	chr6:31758020..31763887-chr6:31863868..31868391,6	K562	blood:
4	chr6:31758502..31767561-chr6:31786193..31804196,52	MCF-7	breast:
5	chr6:31758631..31763066-chr6:31827655..31831615,4	K562	blood:
6	chr6:31756951..31764627-chr6:31780500..31799197,32	MCF-7	breast:
7	chr6:31758779..31760923-chr6:31939769..31942169,2	K562	blood:
8	chr6:31706414..31709644-chr6:31760309..31763318,4	MCF-7	breast:
9	chr6:31759098..31761444-chr6:32081984..32084051,2	K562	blood:

No data

Variant related genes	Relation type
VARS	TF binding region
VARS	CpG island
ENSG00000204389	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000168477	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000213719	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv884431	chr6:31732679-31761386	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv601943	chr6:31733544-31763862	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	55 gene(s)	inside rSNPs	diseases
20	nsv884432	chr6:31734117-31777687	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
21	nsv884433	chr6:31737701-31777687	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
22	nsv884437	chr6:31739881-31777687	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
23	nsv884440	chr6:31743882-31775984	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
24	nsv884442	chr6:31745518-31764899	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
25	nsv884443	chr6:31745518-31777687	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
26	nsv601944	chr6:31749541-31763862	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
27	nsv884444	chr6:31756670-31768217	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
28	nsv884445	chr6:31756907-31769250	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
29	nsv884446	chr6:31760309-31768971	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 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	chr6:31745000-31762400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:31745200-31760400	Weak transcription	Fetal Brain Male	brain
3	chr6:31745200-31761000	Strong transcription	Fetal Stomach	stomach
4	chr6:31745400-31761600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31745400-31762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:31745600-31760400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:31745600-31760400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:31745600-31760600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:31745600-31760800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:31745600-31760800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:31745600-31760800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:31745600-31760800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:31745600-31762200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:31745800-31760800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:31745800-31760800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:31745800-31761000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:31745800-31762000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:31745800-31762000	Weak transcription	Fetal Kidney	kidney
19	chr6:31746000-31761800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:31746000-31761800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:31746200-31760600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:31746200-31760800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:31746400-31761000	Strong transcription	Fetal Intestine Small	intestine
24	chr6:31746600-31760400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:31750000-31762400	Weak transcription	Right Atrium	heart
26	chr6:31753200-31761800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:31753400-31760400	Weak transcription	Ovary	ovary
28	chr6:31753400-31762400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:31753600-31761400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:31753600-31762000	Weak transcription	Brain Angular Gyrus	brain
31	chr6:31753800-31761800	Weak transcription	HSMMtube	muscle
32	chr6:31753800-31762000	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:31754200-31762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:31756600-31760600	Strong transcription	Brain Germinal Matrix	brain
35	chr6:31756600-31760800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:31756800-31760400	Strong transcription	HepG2	liver
37	chr6:31756800-31760800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:31757000-31760400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr6:31757000-31760600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:31757000-31760600	Strong transcription	Osteobl	bone
41	chr6:31757000-31760800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:31757000-31760800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:31757000-31761000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:31757000-31761000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:31757000-31761600	Strong transcription	Fetal Muscle Leg	muscle
46	chr6:31757200-31760400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr6:31757200-31760800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr6:31757200-31760800	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr6:31757200-31760800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:31757200-31761000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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