Variant report

Variant	rs538472449
Chromosome Location	chr6:31745911-31745912
allele	-/CAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:31745779-31745963	K562	blood:	n/a	n/a
2	PML	chr6:31744451-31745941	K562	blood:	n/a	n/a
3	PML	chr6:31744242-31746157	K562	blood:	n/a	n/a
4	POLR2A	chr6:31744627-31746096	K562	blood:	n/a	n/a
5	CBX3	chr6:31744203-31746270	K562	blood:	n/a	n/a
6	POLR2A	chr6:31744496-31746322	HL-60	blood:	n/a	n/a
7	JUN	chr6:31743526-31746220	K562	blood:	n/a	chr6:31745138-31745146 chr6:31745650-31745658
8	POLR2A	chr6:31744284-31746587	K562	blood:	n/a	n/a
9	NR2F2	chr6:31743692-31746295	K562	blood:	n/a	n/a
10	CTCF	chr6:31745800-31745950	GM12864	blood:	n/a	n/a
11	POLR2A	chr6:31744473-31746297	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr6:31744364-31746879	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:31744277-31746322	K562	blood:	n/a	n/a
14	POLR2A	chr6:31743241-31751112	K562	blood:	n/a	n/a
15	POLR2A	chr6:31744556-31746279	K562	blood:	n/a	n/a
16	ZBTB7A	chr6:31745890-31746155	K562	blood:	n/a	n/a
17	POLR2A	chr6:31744407-31746497	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr6:31744121-31746554	K562	blood:	n/a	n/a
19	POLR2A	chr6:31744307-31746138	Hela-S3	cervix:	n/a	n/a
20	ZBTB7A	chr6:31744551-31746244	K562	blood:	n/a	n/a
21	CHD2	chr6:31743828-31746134	K562	blood:	n/a	n/a
22	POLR2A	chr6:31744267-31750623	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr6:31744581-31746132	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
2	chr6:31745070..31746845-chr6:31830028..31832915,2	MCF-7	breast:
3	chr6:31743287..31747076-chr6:31793437..31796925,5	MCF-7	breast:
4	chr6:31743326..31746438-chr6:31828635..31833007,4	K562	blood:
5	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
6	chr6:31743107..31747994-chr6:31781956..31785553,7	MCF-7	breast:
7	chr6:31507944..31511146-chr6:31743964..31746169,3	K562	blood:
8	chr6:31745758..31747408-chr6:31800818..31802986,2	MCF-7	breast:
9	chr6:31743176..31746587-chr6:31939802..31942689,4	K562	blood:

No data

Variant related genes	Relation type
VWA7	TF binding region
ENSG00000204390	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000201754	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 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	nsv884434	chr6:31739881-31748110	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
23	nsv884435	chr6:31739881-31750919	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
24	nsv884436	chr6:31739881-31754096	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
25	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
26	nsv884438	chr6:31742590-31751832	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases
27	nsv884439	chr6:31742590-31754096	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
28	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
29	esv3370799	chr6:31743973-31748071	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
30	nsv884441	chr6:31745518-31754096	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
31	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
32	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31731800-31749600	Weak transcription	HUVEC	blood vessel
2	chr6:31734600-31746600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:31739800-31746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:31742600-31746000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:31742800-31746400	Enhancers	Liver	Liver
6	chr6:31742800-31746400	Flanking Active TSS	HepG2	liver
7	chr6:31744200-31746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:31744200-31746600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:31745000-31746000	Enhancers	Stomach Mucosa	stomach
10	chr6:31745000-31746400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:31745000-31746400	Genic enhancers	Fetal Intestine Small	intestine
12	chr6:31745000-31746600	Enhancers	Fetal Heart	heart
13	chr6:31745000-31746800	Weak transcription	Aorta	Aorta
14	chr6:31745000-31750600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:31745000-31760200	Weak transcription	Psoas Muscle	Psoas
16	chr6:31745000-31762400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:31745200-31746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:31745200-31746000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:31745200-31746000	Enhancers	Fetal Intestine Large	intestine
20	chr6:31745200-31746000	Weak transcription	Lung	lung
21	chr6:31745200-31746000	Enhancers	GM12878-XiMat	blood
22	chr6:31745200-31746200	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr6:31745200-31746800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:31745200-31746800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:31745200-31746800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:31745200-31746800	Weak transcription	Small Intestine	intestine
27	chr6:31745200-31753400	Strong transcription	Brain Germinal Matrix	brain
28	chr6:31745200-31760400	Weak transcription	Fetal Brain Male	brain
29	chr6:31745200-31761000	Strong transcription	Fetal Stomach	stomach
30	chr6:31745400-31746000	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr6:31745400-31746000	Weak transcription	Adipose Nuclei	Adipose
32	chr6:31745400-31746000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:31745400-31746000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr6:31745400-31746000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:31745400-31746200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:31745400-31746400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:31745400-31746600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:31745400-31746600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:31745400-31746600	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:31745400-31746600	Weak transcription	Pancreas	Pancrea
41	chr6:31745400-31747400	Weak transcription	Primary B cells from cord blood	blood
42	chr6:31745400-31747600	Weak transcription	Fetal Lung	lung
43	chr6:31745400-31751800	Weak transcription	NHDF-Ad	bronchial
44	chr6:31745400-31752000	Strong transcription	Brain Cingulate Gyrus	brain
45	chr6:31745400-31753600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:31745400-31753600	Strong transcription	NHLF	lung
47	chr6:31745400-31753800	Strong transcription	Gastric	stomach
48	chr6:31745400-31755200	Strong transcription	Fetal Brain Female	brain
49	chr6:31745400-31761600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:31745400-31762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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