Variant report

Variant	rs375888198
Chromosome Location	chr6:1390677-1390678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56861777..56862532-chr6:1390623..1391151,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000176422	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv883369	chr6:1244837-1416849	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1017614	chr6:1248650-1423502	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1029972	chr6:1307337-1391814	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015744	chr6:1307337-1395551	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1027053	chr6:1307337-1397924	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1027089	chr6:1313404-1391814	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1031351	chr6:1313404-1395551	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1028654	chr6:1313404-1397924	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1022280	chr6:1313404-1406015	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538087	chr6:1313404-1406015	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv883370	chr6:1349828-1426790	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv883371	chr6:1374277-1416849	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv883372	chr6:1374277-1426790	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
18	esv3340220	chr6:1388928-1391901	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a
19	esv3326377	chr6:1388978-1391526	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a
20	esv3375080	chr6:1389978-1392526	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1387400-1390800	Bivalent/Poised TSS	Colonic Mucosa	Colon
2	chr6:1387600-1390800	Active TSS	NHLF	lung
3	chr6:1387800-1392800	Active TSS	Colon Smooth Muscle	Colon
4	chr6:1388000-1395200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
5	chr6:1388200-1394400	Bivalent/Poised TSS	Fetal Lung	lung
6	chr6:1388400-1391400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr6:1388600-1393000	Active TSS	NHDF-Ad	bronchial
8	chr6:1388800-1391800	Bivalent Enhancer	Liver	Liver
9	chr6:1389000-1391200	Active TSS	Right Atrium	heart
10	chr6:1389000-1391400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:1389000-1391800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:1389000-1392600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:1389200-1390800	Active TSS	Aorta	Aorta
14	chr6:1389200-1391000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:1389200-1391000	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr6:1389200-1391400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:1389200-1391400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:1389200-1391800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:1389400-1391200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:1389400-1391200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:1389400-1391200	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:1389600-1390800	Bivalent/Poised TSS	HepG2	liver
23	chr6:1389600-1391000	Bivalent/Poised TSS	HSMM	muscle
24	chr6:1389600-1391200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:1389600-1391200	Active TSS	Osteobl	bone
26	chr6:1389600-1392800	Active TSS	Hela-S3	cervix
27	chr6:1389800-1391000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:1389800-1391200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:1389800-1391200	Active TSS	Rectal Smooth Muscle	rectum
30	chr6:1389800-1391400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:1389800-1391600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:1389800-1391800	Bivalent/Poised TSS	NHEK	skin
33	chr6:1390000-1390800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:1390000-1390800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:1390000-1391600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
36	chr6:1390000-1393000	Bivalent/Poised TSS	NH-A	brain
37	chr6:1390000-1394400	Bivalent/Poised TSS	Small Intestine	intestine
38	chr6:1390200-1391400	Flanking Active TSS	Pancreas	Pancrea
39	chr6:1390200-1391600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
40	chr6:1390200-1392400	Active TSS	A549	lung
41	chr6:1390200-1392800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:1390400-1390800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr6:1390400-1390800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:1390400-1390800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:1390400-1390800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr6:1390400-1390800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:1390400-1390800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr6:1390400-1390800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr6:1390400-1390800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr6:1390400-1390800	Flanking Bivalent TSS/Enh	Placenta	Placenta

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