Variant report

Variant	rs71337549
Chromosome Location	chr19:38617390-38617391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10460171	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11083447	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12460188	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12461387	0.80[ASN][1000 genomes]
rs12974504	0.80[ASN][1000 genomes]
rs12975576	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12976860	0.82[EUR][1000 genomes]
rs12981412	0.80[ASN][1000 genomes]
rs12982030	0.83[ASN][1000 genomes]
rs12982734	0.80[ASN][1000 genomes]
rs12983059	0.80[ASN][1000 genomes]
rs12983497	0.80[ASN][1000 genomes]
rs12984016	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12984380	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12984864	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12985707	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545039	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1962866	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2004981	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2010234	0.89[EUR][1000 genomes]
rs2016074	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2116862	0.97[EUR][1000 genomes]
rs2163817	0.92[EUR][1000 genomes]
rs2304132	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2382972	0.92[EUR][1000 genomes]
rs2382973	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2569517	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332845	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs332846	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs332854	0.85[EUR][1000 genomes]
rs332857	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332859	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332860	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs332861	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs332862	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs332863	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34646932	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35467693	0.95[EUR][1000 genomes]
rs35469521	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35972455	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3852910	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3852911	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802248	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803805	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4803808	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67910767	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253312	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7253633	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258019	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8100956	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107385	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs855617	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38591800-38642800	Weak transcription	Small Intestine	intestine
2	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
3	chr19:38603000-38625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:38605800-38625400	Weak transcription	HMEC	breast
5	chr19:38610800-38643600	Weak transcription	HepG2	liver
6	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:38611200-38625400	Weak transcription	NHEK	skin
8	chr19:38611600-38618400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:38611600-38621400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:38611600-38625400	Weak transcription	Fetal Heart	heart
11	chr19:38611600-38626000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:38611600-38634400	Weak transcription	Stomach Mucosa	stomach
13	chr19:38611600-38634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:38611600-38634800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:38611600-38641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
17	chr19:38611800-38623600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:38611800-38623800	Weak transcription	GM12878-XiMat	blood
19	chr19:38611800-38634600	Weak transcription	NH-A	brain
20	chr19:38611800-38642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
22	chr19:38613400-38633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:38613400-38634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:38613600-38620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:38613600-38625600	Weak transcription	Hela-S3	cervix
26	chr19:38613600-38634800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr19:38613800-38617800	Weak transcription	Osteobl	bone
28	chr19:38613800-38618200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:38613800-38619000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:38613800-38619600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:38613800-38620400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:38613800-38620800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:38613800-38620800	Weak transcription	Primary T cells from cord blood	blood
34	chr19:38613800-38620800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:38613800-38620800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:38613800-38620800	Weak transcription	Aorta	Aorta
37	chr19:38613800-38620800	Weak transcription	Colonic Mucosa	Colon
38	chr19:38613800-38620800	Weak transcription	Ovary	ovary
39	chr19:38613800-38620800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:38613800-38621000	Weak transcription	Adipose Nuclei	Adipose
41	chr19:38613800-38621000	Weak transcription	Pancreas	Pancrea
42	chr19:38613800-38621000	Weak transcription	Spleen	Spleen
43	chr19:38613800-38621000	Weak transcription	NHLF	lung
44	chr19:38613800-38621200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:38613800-38621200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr19:38613800-38621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:38613800-38621200	Weak transcription	Fetal Lung	lung
48	chr19:38613800-38621200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:38613800-38621200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:38613800-38621200	Weak transcription	Thymus	Thymus

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