Variant report

Variant	rs1711161
Chromosome Location	chr3:136080537-136080538
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136078680..136080779-chr3:136470546..136472188,2	K562	blood:

Variant related genes	Relation type
ENSG00000261758	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1070232	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs10935182	0.94[JPT][hapmap]
rs10935183	0.87[JPT][hapmap]
rs10935184	0.87[JPT][hapmap]
rs1145106	0.90[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1153877	0.87[JPT][hapmap]
rs11715257	0.94[JPT][hapmap]
rs11717954	0.87[JPT][hapmap]
rs12330635	0.81[CHB][hapmap]
rs12492510	0.87[JPT][hapmap]
rs1279086	0.87[JPT][hapmap]
rs1279425	0.86[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap]
rs1279840	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs13068119	0.85[CEU][hapmap]
rs1394092	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1618069	0.80[ASN][1000 genomes]
rs1711171	0.90[CEU][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs1964675	0.82[ASN][1000 genomes]
rs2655008	0.81[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs28478252	0.85[ASN][1000 genomes]
rs34967300	0.85[CEU][hapmap]
rs3755636	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap]
rs4678428	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs4678433	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap]
rs483465	0.90[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs518972	0.93[JPT][hapmap]
rs521746	0.87[JPT][hapmap]
rs548288	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs553018	0.81[JPT][hapmap]
rs556788	0.87[JPT][hapmap]
rs571513	0.90[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs576771	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs589092	0.87[JPT][hapmap]
rs595532	0.81[JPT][hapmap]
rs606725	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs619605	0.94[JPT][hapmap]
rs650326	0.87[JPT][hapmap]
rs654237	0.81[JPT][hapmap]
rs655720	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs655836	0.94[JPT][hapmap]
rs667920	0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs6791611	0.87[JPT][hapmap]
rs695983	0.86[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs696081	0.87[JPT][hapmap]
rs696516	0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs696518	0.94[JPT][hapmap]
rs696520	0.87[JPT][hapmap]
rs698270	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs699165	0.87[JPT][hapmap]
rs711975	0.81[JPT][hapmap]
rs7621025	0.87[JPT][hapmap]
rs833752	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs834304	0.85[JPT][hapmap]
rs864437	0.93[JPT][hapmap]
rs866758	0.87[JPT][hapmap]
rs900048	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs9289511	0.91[CHB][hapmap]
rs9820485	0.90[CHB][hapmap]
rs9832056	0.91[CHB][hapmap]
rs9832813	0.90[CHB][hapmap]
rs9851986	0.90[CHB][hapmap]
rs9854084	0.91[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs9869720	0.90[CHB][hapmap]
rs9883916	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136043400-136098600	Weak transcription	Fetal Brain Male	brain
2	chr3:136043600-136082000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:136047600-136098000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:136054200-136085400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:136054600-136172000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:136055600-136100800	Weak transcription	Spleen	Spleen
7	chr3:136063400-136139000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:136063400-136139000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:136063600-136097000	Weak transcription	Colonic Mucosa	Colon
10	chr3:136063600-136105600	Weak transcription	Gastric	stomach
11	chr3:136063600-136110600	Weak transcription	Small Intestine	intestine
12	chr3:136063600-136139200	Weak transcription	Pancreas	Pancrea
13	chr3:136063800-136095200	Weak transcription	Lung	lung
14	chr3:136065400-136097200	Weak transcription	HepG2	liver
15	chr3:136067600-136109000	Weak transcription	HUVEC	blood vessel
16	chr3:136068400-136083800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:136068400-136085000	Weak transcription	Fetal Kidney	kidney
18	chr3:136068600-136103800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:136069400-136083800	Weak transcription	Adipose Nuclei	Adipose
20	chr3:136069400-136121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:136069600-136087000	Weak transcription	Hela-S3	cervix
22	chr3:136069600-136107400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:136069600-136138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:136069600-136139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:136069800-136080600	Weak transcription	Placenta	Placenta
26	chr3:136069800-136083000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:136069800-136084800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:136069800-136085000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:136069800-136088800	Weak transcription	HMEC	breast
30	chr3:136069800-136106600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr3:136069800-136118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:136069800-136159600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:136070400-136095000	Weak transcription	NH-A	brain
34	chr3:136070600-136084600	Weak transcription	HSMM	muscle
35	chr3:136070600-136101000	Weak transcription	Right Ventricle	heart
36	chr3:136070600-136105800	Weak transcription	Psoas Muscle	Psoas
37	chr3:136070800-136085200	Weak transcription	Fetal Heart	heart
38	chr3:136070800-136085200	Weak transcription	NHDF-Ad	bronchial
39	chr3:136070800-136085200	Weak transcription	Osteobl	bone
40	chr3:136070800-136095200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:136070800-136096800	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:136070800-136096800	Weak transcription	HSMMtube	muscle
43	chr3:136070800-136099600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:136070800-136112200	Weak transcription	Aorta	Aorta
45	chr3:136070800-136121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:136071000-136085200	Weak transcription	NHLF	lung
47	chr3:136071200-136080600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:136072600-136098800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:136072800-136083600	Weak transcription	Liver	Liver
50	chr3:136072800-136097000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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