Variant report

Variant	rs6805894
Chromosome Location	chr3:20084787-20084788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
2	chr3:20081096..20083250-chr3:20083860..20086560,3	MCF-7	breast:
3	chr3:20083177..20086049-chr3:20086105..20087867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114166	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1915919	1.00[CHD][hapmap]
rs1915922	0.92[ASN][1000 genomes]
rs6806287	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs73177818	0.82[EUR][1000 genomes]
rs73177821	0.82[EUR][1000 genomes]
rs7633042	0.82[EUR][1000 genomes]
rs7638871	0.85[EUR][1000 genomes]
rs9813441	0.92[ASN][1000 genomes]
rs9819915	0.80[LWK][hapmap]
rs9840832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845992	0.85[EUR][1000 genomes]
rs9849842	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9852074	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20082800-20085800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr3:20083000-20085000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr3:20083000-20098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:20083200-20084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:20083200-20084800	Weak transcription	Aorta	Aorta
6	chr3:20083200-20085000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:20083200-20086200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr3:20083200-20088600	Weak transcription	Ovary	ovary
9	chr3:20083400-20084800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:20083400-20084800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:20083400-20084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:20083400-20084800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:20083400-20084800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:20083400-20084800	Enhancers	Colonic Mucosa	Colon
15	chr3:20083400-20084800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:20083400-20084800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:20083400-20084800	Weak transcription	HUVEC	blood vessel
18	chr3:20083400-20085000	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:20083400-20085000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:20083400-20085000	Enhancers	Spleen	Spleen
21	chr3:20083400-20085400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:20083400-20085400	Enhancers	Pancreas	Pancrea
23	chr3:20083400-20085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:20083400-20085600	Flanking Active TSS	Thymus	Thymus
25	chr3:20083400-20085800	Enhancers	Fetal Intestine Large	intestine
26	chr3:20083400-20086200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:20083400-20086600	Enhancers	Placenta	Placenta
28	chr3:20083400-20089000	Weak transcription	Fetal Brain Male	brain
29	chr3:20083600-20084800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:20083600-20084800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:20083600-20084800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:20083600-20084800	Enhancers	Adipose Nuclei	Adipose
33	chr3:20083600-20084800	Enhancers	Liver	Liver
34	chr3:20083600-20084800	Enhancers	Colon Smooth Muscle	Colon
35	chr3:20083600-20084800	Weak transcription	Right Ventricle	heart
36	chr3:20083600-20084800	Enhancers	Hela-S3	cervix
37	chr3:20083600-20084800	Weak transcription	HSMM	muscle
38	chr3:20083600-20084800	Weak transcription	HSMMtube	muscle
39	chr3:20083600-20084800	Weak transcription	NHEK	skin
40	chr3:20083600-20084800	Weak transcription	Osteobl	bone
41	chr3:20083600-20085000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:20083600-20085000	Enhancers	Psoas Muscle	Psoas
43	chr3:20083600-20085200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:20083600-20085400	Enhancers	Fetal Lung	lung
45	chr3:20083600-20085800	Enhancers	Primary hematopoietic stem cells	blood
46	chr3:20083800-20084800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr3:20083800-20084800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:20083800-20084800	Enhancers	Right Atrium	heart
49	chr3:20083800-20084800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:20083800-20084800	Weak transcription	HepG2	liver

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