Variant report

Variant	rs11759759
Chromosome Location	chr6:1624512-1624513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62390615	1.00[AFR][1000 genomes]
rs62390617	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62390618	0.83[AFR][1000 genomes]
rs62390636	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
3	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
4	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
5	nsv1034039	chr6:1427061-1691837	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases
6	nsv538088	chr6:1427061-1691837	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv1027393	chr6:1446300-1692019	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv538089	chr6:1446300-1692019	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1016859	chr6:1460020-1645819	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv883376	chr6:1535043-1635082	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1016594	chr6:1590030-1702529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv823394	chr6:1590091-1629146	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS 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 target site	24 gene(s)	inside rSNPs	diseases
15	nsv883379	chr6:1593851-1628902	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
16	nsv823395	chr6:1595031-1629521	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
17	nsv883381	chr6:1595216-1628902	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	nsv823396	chr6:1597359-1629106	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr6:1616800-1631400	Weak transcription	Hela-S3	cervix
2	chr6:1621800-1624800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:1622400-1624600	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:1622400-1626600	Strong transcription	HepG2	liver
5	chr6:1622600-1629000	Active TSS	Aorta	Aorta
6	chr6:1623400-1624800	Weak transcription	Pancreas	Pancrea
7	chr6:1623400-1625600	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr6:1623400-1626800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:1623800-1624600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:1624000-1624600	Flanking Active TSS	HUVEC	blood vessel
11	chr6:1624000-1626800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:1624200-1624600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:1624200-1624600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr6:1624200-1624600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:1624200-1624600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:1624200-1624600	Flanking Active TSS	Right Ventricle	heart
17	chr6:1624200-1624800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
18	chr6:1624200-1624800	Enhancers	Lung	lung
19	chr6:1624200-1624800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:1624200-1625000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:1624200-1625400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr6:1624200-1625600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:1624200-1625800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:1624200-1625800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr6:1624200-1625800	Active TSS	Osteobl	bone
26	chr6:1624200-1626000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:1624200-1626000	Active TSS	Right Atrium	heart
28	chr6:1624400-1624600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:1624400-1624600	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:1624400-1624600	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr6:1624400-1624600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr6:1624400-1624600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:1624400-1624600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:1624400-1624600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:1624400-1624600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr6:1624400-1624600	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr6:1624400-1624600	Bivalent Enhancer	Placenta	Placenta
38	chr6:1624400-1624600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
39	chr6:1624400-1624600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr6:1624400-1624600	ZNF genes & repeats	Spleen	Spleen
41	chr6:1624400-1624600	Flanking Active TSS	HMEC	breast
42	chr6:1624400-1624600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr6:1624400-1624600	Flanking Active TSS	NHEK	skin
44	chr6:1624400-1624800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:1624400-1624800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:1624400-1624800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:1624400-1624800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr6:1624400-1624800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr6:1624400-1624800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
50	chr6:1624400-1624800	Active TSS	Psoas Muscle	Psoas

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