Variant report

Variant	rs73716420
Chromosome Location	chr6:1378866-1378867
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9501729	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1378000-1379200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr6:1378000-1379200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:1378200-1379200	Bivalent Enhancer	Adipose Nuclei	Adipose
4	chr6:1378200-1379200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
5	chr6:1378200-1379400	Bivalent Enhancer	Fetal Stomach	stomach
6	chr6:1378200-1379600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr6:1378200-1379600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:1378200-1379600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
9	chr6:1378200-1379600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr6:1378200-1379600	Bivalent Enhancer	Fetal Lung	lung
11	chr6:1378200-1379600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr6:1378200-1379800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:1378200-1379800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:1378200-1379800	Enhancers	Pancreas	Pancrea
15	chr6:1378200-1380000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr6:1378200-1380000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:1378200-1380000	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr6:1378200-1380200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:1378200-1380200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:1378200-1380200	Bivalent Enhancer	Liver	Liver
21	chr6:1378200-1380200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:1378200-1380200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr6:1378200-1380400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:1378200-1381800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr6:1378200-1382400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr6:1378200-1383400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr6:1378200-1386600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr6:1378400-1379000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:1378400-1379000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:1378400-1379000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr6:1378400-1379000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:1378400-1379000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:1378400-1379000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr6:1378400-1379000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
35	chr6:1378400-1379000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
36	chr6:1378400-1379200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:1378400-1379200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:1378400-1379200	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr6:1378400-1379200	Bivalent Enhancer	Brain Substantia Nigra	brain
40	chr6:1378400-1379200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr6:1378400-1379400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:1378400-1379400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:1378400-1379400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr6:1378400-1379400	Bivalent Enhancer	Left Ventricle	heart
45	chr6:1378400-1379600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:1378400-1379800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr6:1378400-1379800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr6:1378400-1379800	Bivalent Enhancer	Fetal Brain Male	brain
49	chr6:1378400-1379800	Enhancers	Lung	lung
50	chr6:1378400-1379800	Bivalent Enhancer	Spleen	Spleen

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