Variant report

Variant	rs2515348
Chromosome Location	chr11:58328952-58328953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58321414..58324163-chr11:58328599..58331091,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10750899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824479	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11827157	1.00[EUR][1000 genomes]
rs12277283	1.00[EUR][1000 genomes]
rs12292248	1.00[EUR][1000 genomes]
rs1802347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944053	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2507759	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509917	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509921	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509926	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2510549	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510551	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510555	0.87[ASN][1000 genomes]
rs2510556	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510558	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510862	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510863	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515349	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515358	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515360	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515361	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515372	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55867213	1.00[EUR][1000 genomes]
rs55952041	1.00[EUR][1000 genomes]
rs56233432	1.00[EUR][1000 genomes]
rs60168609	0.82[EUR][1000 genomes]
rs6591480	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7101365	0.82[EUR][1000 genomes]
rs7115601	0.82[EUR][1000 genomes]
rs7358405	1.00[EUR][1000 genomes]
rs7928565	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930253	1.00[EUR][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	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58300000-58340600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:58300600-58338600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:58309000-58336200	Weak transcription	NHEK	skin
4	chr11:58309600-58338800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:58310000-58330000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:58310600-58331000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:58315600-58340400	Weak transcription	Stomach Mucosa	stomach
8	chr11:58318000-58330000	Weak transcription	Small Intestine	intestine
9	chr11:58318200-58329000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:58318200-58336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:58318400-58329000	Weak transcription	Fetal Kidney	kidney
12	chr11:58318400-58329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:58318400-58341000	Weak transcription	Right Ventricle	heart
14	chr11:58318400-58344800	Weak transcription	Fetal Brain Male	brain
15	chr11:58318600-58344400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:58318800-58332000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:58318800-58336800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:58318800-58340600	Weak transcription	NHLF	lung
19	chr11:58318800-58341400	Weak transcription	Psoas Muscle	Psoas
20	chr11:58319200-58343000	Weak transcription	Fetal Brain Female	brain
21	chr11:58319800-58329800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:58320000-58330000	Weak transcription	Aorta	Aorta
23	chr11:58320000-58330000	Weak transcription	Gastric	stomach
24	chr11:58320000-58330000	Weak transcription	Pancreas	Pancrea
25	chr11:58320000-58341000	Weak transcription	HSMMtube	muscle
26	chr11:58320200-58340800	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:58320400-58329000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:58320600-58338200	Weak transcription	HMEC	breast
29	chr11:58321400-58329000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:58321400-58329000	Weak transcription	Brain Substantia Nigra	brain
31	chr11:58321600-58336400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:58321600-58337200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:58321600-58340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:58321800-58329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:58321800-58330000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:58321800-58340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:58321800-58341200	Weak transcription	Colonic Mucosa	Colon
38	chr11:58321800-58345000	Weak transcription	Ovary	ovary
39	chr11:58322000-58329000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:58322000-58336400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:58322200-58332400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:58322200-58336400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:58322200-58337000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:58322400-58329000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:58322400-58329000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:58322400-58329000	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:58322400-58329000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:58322400-58329200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:58322400-58329400	Weak transcription	HSMM	muscle
50	chr11:58322400-58329600	Weak transcription	Adipose Nuclei	Adipose

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