Variant report

Variant	rs6931293
Chromosome Location	chr6:30683249-30683250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
2	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
3	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
4	chr6:30680946..30683876-chr6:31587543..31589565,2	K562	blood:
5	chr6:30682386..30686066-chr6:30878897..30882722,4	K562	blood:
6	chr6:30538279..30540737-chr6:30682674..30685473,2	K562	blood:
7	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
8	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213780	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000230449	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204574	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1079687	0.90[ASN][1000 genomes]
rs1109146	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867852	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16897781	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16897791	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239886	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2269702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269707	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284172	0.82[EUR][1000 genomes]
rs2285321	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2394392	0.90[ASN][1000 genomes]
rs25497	0.82[EUR][1000 genomes]
rs28986465	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094090	0.90[ASN][1000 genomes]
rs3132595	0.90[ASN][1000 genomes]
rs3132608	0.90[ASN][1000 genomes]
rs55810373	0.82[EUR][1000 genomes]
rs59378621	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61486053	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61733213	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6924270	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6929626	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6929698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937357	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7762626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773711	0.84[AFR][1000 genomes]
rs9295901	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295902	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295904	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9295905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295907	0.82[AMR][1000 genomes]
rs9295908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461620	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461622	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9461623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461625	0.82[EUR][1000 genomes]
rs9468803	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468805	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468807	0.93[ASN][1000 genomes]
rs9468811	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468812	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9468813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468814	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468816	0.82[EUR][1000 genomes]
rs9468817	0.82[EUR][1000 genomes]
rs9500863	0.82[EUR][1000 genomes]
rs9500866	0.82[EUR][1000 genomes]
rs9500867	0.82[EUR][1000 genomes]
rs9501027	0.82[EUR][1000 genomes]
rs9501338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501481	0.92[ASN][1000 genomes]
rs9501482	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9501484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' 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	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 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	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
2	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
3	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
5	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
6	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:30670200-30683400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr6:30678600-30683400	Genic enhancers	Fetal Thymus	thymus
11	chr6:30678600-30683600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:30680800-30683800	Weak transcription	Fetal Heart	heart
13	chr6:30680800-30684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:30680800-30684400	Weak transcription	Psoas Muscle	Psoas
15	chr6:30680800-30684600	Weak transcription	Esophagus	oesophagus
16	chr6:30681000-30683800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:30681000-30684200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:30681000-30684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:30681000-30684200	Weak transcription	Fetal Kidney	kidney
20	chr6:30681000-30684200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:30681000-30684200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:30681200-30684200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:30681200-30684200	Weak transcription	Pancreas	Pancrea
24	chr6:30681200-30684600	Weak transcription	Ovary	ovary
25	chr6:30681600-30683800	Weak transcription	Hela-S3	cervix
26	chr6:30681600-30684200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:30681600-30684200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:30681800-30684000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:30681800-30684000	Weak transcription	HUVEC	blood vessel
30	chr6:30681800-30684200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:30681800-30684200	Weak transcription	Brain Germinal Matrix	brain
32	chr6:30681800-30684200	Weak transcription	Fetal Intestine Large	intestine
33	chr6:30681800-30684200	Weak transcription	Lung	lung
34	chr6:30681800-30684200	Weak transcription	Right Ventricle	heart
35	chr6:30681800-30684200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:30681800-30684200	Weak transcription	NHDF-Ad	bronchial
37	chr6:30682000-30683800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:30682000-30684200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:30682000-30684200	Weak transcription	Aorta	Aorta
40	chr6:30682000-30684200	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:30682000-30684200	Weak transcription	Fetal Intestine Small	intestine
42	chr6:30682000-30684200	Weak transcription	HMEC	breast
43	chr6:30682000-30684200	Weak transcription	HSMMtube	muscle
44	chr6:30682000-30684200	Weak transcription	NHLF	lung
45	chr6:30682000-30684400	Weak transcription	Colonic Mucosa	Colon
46	chr6:30682000-30684600	Weak transcription	Gastric	stomach
47	chr6:30682200-30684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:30682200-30684200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:30682200-30684200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:30682400-30683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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