Variant report

Variant	rs2247488
Chromosome Location	chr15:76546021-76546022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76544452..76546096-chr15:76594842..76597677,2	K562	blood:
2	chr15:76531536..76533048-chr15:76544573..76546662,2	K562	blood:
3	chr15:76539036..76540691-chr15:76544949..76547274,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10220790	1.00[AMR][1000 genomes]
rs12708522	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1533600	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs157774	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs157781	1.00[AMR][1000 genomes]
rs157782	1.00[AMR][1000 genomes]
rs157784	1.00[AMR][1000 genomes]
rs166932	1.00[AMR][1000 genomes]
rs1810347	1.00[AMR][1000 genomes]
rs1814764	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs185860	1.00[AMR][1000 genomes]
rs1875886	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1878877	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs190782	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037306	1.00[AMR][1000 genomes]
rs2176622	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244050	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245180	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2250805	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456030	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456034	1.00[AMR][1000 genomes]
rs2456035	1.00[AMR][1000 genomes]
rs2456036	1.00[AMR][1000 genomes]
rs2456037	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456038	1.00[AMR][1000 genomes]
rs2456039	1.00[AMR][1000 genomes]
rs2456043	0.83[AMR][1000 genomes]
rs2456044	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456056	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456059	0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456064	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456068	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460141	1.00[AMR][1000 genomes]
rs2460143	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2460145	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460149	1.00[AMR][1000 genomes]
rs2460157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460159	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469209	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469217	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469218	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469219	1.00[AMR][1000 genomes]
rs2469220	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469223	1.00[AMR][1000 genomes]
rs2469536	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469537	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469540	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469545	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469546	0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469549	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469550	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469551	1.00[AMR][1000 genomes]
rs2469553	1.00[AMR][1000 genomes]
rs2469561	0.89[AFR][1000 genomes]
rs2469571	1.00[AMR][1000 genomes]
rs2469572	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469574	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2516308	1.00[AMR][1000 genomes]
rs283788	1.00[AMR][1000 genomes]
rs283790	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs283792	1.00[AMR][1000 genomes]
rs283794	1.00[AMR][1000 genomes]
rs283797	1.00[AMR][1000 genomes]
rs283798	0.83[AMR][1000 genomes]
rs284887	0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs284888	1.00[AMR][1000 genomes]
rs284889	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs284890	1.00[AMR][1000 genomes]
rs284894	0.83[AMR][1000 genomes]
rs284900	1.00[AMR][1000 genomes]
rs2938692	1.00[AMR][1000 genomes]
rs2938693	1.00[AMR][1000 genomes]
rs2938694	0.83[AMR][1000 genomes]
rs2938696	1.00[AMR][1000 genomes]
rs2938698	1.00[AMR][1000 genomes]
rs2944379	1.00[AMR][1000 genomes]
rs2944380	1.00[AMR][1000 genomes]
rs2948702	1.00[AMR][1000 genomes]
rs2956872	1.00[AMR][1000 genomes]
rs2957558	1.00[AMR][1000 genomes]
rs2957608	1.00[AMR][1000 genomes]
rs426225	0.83[AMR][1000 genomes]
rs4886797	1.00[AMR][1000 genomes]
rs542148	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495202	1.00[AMR][1000 genomes]
rs7164815	1.00[AMR][1000 genomes]
rs8040818	1.00[AMR][1000 genomes]
rs937731	1.00[AMR][1000 genomes]
rs937734	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv527608	chr15:76530267-76562738	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76503600-76551400	Weak transcription	Small Intestine	intestine
2	chr15:76507200-76551400	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:76510200-76555400	Weak transcription	Psoas Muscle	Psoas
4	chr15:76510400-76555000	Weak transcription	NH-A	brain
5	chr15:76513200-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:76513800-76551400	Weak transcription	Stomach Mucosa	stomach
7	chr15:76516400-76550600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:76517200-76551800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:76517400-76549200	Weak transcription	Fetal Kidney	kidney
10	chr15:76517400-76550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:76517400-76550600	Weak transcription	Pancreas	Pancrea
12	chr15:76517400-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:76517600-76550600	Weak transcription	Aorta	Aorta
14	chr15:76517600-76550600	Weak transcription	Ovary	ovary
15	chr15:76517600-76551200	Weak transcription	Right Ventricle	heart
16	chr15:76517600-76551400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:76517600-76553800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:76518200-76550400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:76521400-76551600	Weak transcription	Left Ventricle	heart
20	chr15:76522400-76554400	Weak transcription	Fetal Heart	heart
21	chr15:76523600-76546200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:76523600-76546600	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:76523600-76550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr15:76523600-76550600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:76523600-76550600	Weak transcription	Colonic Mucosa	Colon
26	chr15:76523600-76550600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:76523800-76551200	Weak transcription	Fetal Thymus	thymus
28	chr15:76523800-76551800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:76524000-76547800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr15:76524000-76551600	Weak transcription	HMEC	breast
31	chr15:76524200-76553000	Weak transcription	NHDF-Ad	bronchial
32	chr15:76525200-76550600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr15:76525200-76550600	Weak transcription	GM12878-XiMat	blood
34	chr15:76525600-76547600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:76527600-76550600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:76527600-76550600	Weak transcription	Esophagus	oesophagus
37	chr15:76529000-76546200	Weak transcription	Right Atrium	heart
38	chr15:76529000-76550600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:76529000-76551000	Weak transcription	K562	blood
40	chr15:76530400-76550600	Weak transcription	Fetal Stomach	stomach
41	chr15:76531400-76551400	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:76532800-76551200	Weak transcription	HSMMtube	muscle
43	chr15:76533200-76550600	Weak transcription	HSMM	muscle
44	chr15:76535000-76546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:76535400-76546200	Weak transcription	A549	lung
46	chr15:76535400-76549200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:76535400-76550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr15:76535400-76550600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:76535400-76550800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:76535400-76553000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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