Variant report

Variant	rs58230522
Chromosome Location	chr6:1391101-1391102
allele	-/GCG
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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1387800-1392800	Active TSS	Colon Smooth Muscle	Colon
2	chr6:1388000-1395200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
3	chr6:1388200-1394400	Bivalent/Poised TSS	Fetal Lung	lung
4	chr6:1388400-1391400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr6:1388600-1393000	Active TSS	NHDF-Ad	bronchial
6	chr6:1388800-1391800	Bivalent Enhancer	Liver	Liver
7	chr6:1389000-1391200	Active TSS	Right Atrium	heart
8	chr6:1389000-1391400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:1389000-1391800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:1389000-1392600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:1389200-1391400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:1389200-1391400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:1389200-1391800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:1389400-1391200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:1389400-1391200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:1389400-1391200	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:1389600-1391200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:1389600-1391200	Active TSS	Osteobl	bone
19	chr6:1389600-1392800	Active TSS	Hela-S3	cervix
20	chr6:1389800-1391200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:1389800-1391200	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:1389800-1391400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:1389800-1391600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:1389800-1391800	Bivalent/Poised TSS	NHEK	skin
25	chr6:1390000-1391600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
26	chr6:1390000-1393000	Bivalent/Poised TSS	NH-A	brain
27	chr6:1390000-1394400	Bivalent/Poised TSS	Small Intestine	intestine
28	chr6:1390200-1391400	Flanking Active TSS	Pancreas	Pancrea
29	chr6:1390200-1391600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
30	chr6:1390200-1392400	Active TSS	A549	lung
31	chr6:1390200-1392800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:1390400-1391200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:1390400-1391200	Active TSS	Brain Substantia Nigra	brain
34	chr6:1390400-1391200	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr6:1390400-1391400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:1390400-1391400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:1390400-1391400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr6:1390400-1391400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:1390400-1391400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
40	chr6:1390400-1391600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:1390400-1391600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr6:1390400-1391800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr6:1390400-1391800	Bivalent Enhancer	Fetal Brain Male	brain
44	chr6:1390400-1392000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:1390400-1392400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:1390400-1392800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:1390400-1393600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr6:1390400-1394200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
49	chr6:1390400-1395600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr6:1390400-1396600	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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