Variant report

Variant	rs2402870
Chromosome Location	chr7:127438463-127438464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127436923..127439830-chr7:127443618..127447168,4	K562	blood:
2	chr7:127425728..127430973-chr7:127434300..127441103,9	K562	blood:
3	chr7:127429473..127432507-chr7:127434454..127438684,5	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10251423	0.93[EUR][1000 genomes]
rs10251548	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255861	0.90[JPT][hapmap]
rs10260037	0.90[JPT][hapmap]
rs1029927	0.93[EUR][1000 genomes]
rs10954163	0.97[EUR][1000 genomes]
rs11521053	0.99[EUR][1000 genomes]
rs11971935	0.96[EUR][1000 genomes]
rs11972774	0.97[EUR][1000 genomes]
rs11976841	0.92[EUR][1000 genomes]
rs11976946	0.96[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs11977915	0.90[JPT][hapmap]
rs11980318	0.90[JPT][hapmap]
rs12531440	0.98[EUR][1000 genomes]
rs12533846	0.99[EUR][1000 genomes]
rs12539728	0.96[EUR][1000 genomes]
rs12540865	0.99[EUR][1000 genomes]
rs13236900	0.96[CEU][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes]
rs13237048	0.97[EUR][1000 genomes]
rs1362268	0.91[JPT][hapmap]
rs141450	0.95[EUR][1000 genomes]
rs16885524	0.92[EUR][1000 genomes]
rs17151241	0.97[EUR][1000 genomes]
rs17151270	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17676986	0.90[JPT][hapmap]
rs17716738	0.90[JPT][hapmap]
rs1860934	0.94[EUR][1000 genomes]
rs1881084	0.93[EUR][1000 genomes]
rs2014583	0.96[EUR][1000 genomes]
rs2016786	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043982	0.91[EUR][1000 genomes]
rs2119452	0.92[EUR][1000 genomes]
rs2119453	0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs2141259	0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs2402866	0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs2402867	0.92[EUR][1000 genomes]
rs325440	0.95[EUR][1000 genomes]
rs325442	0.94[EUR][1000 genomes]
rs325444	0.94[EUR][1000 genomes]
rs325445	0.95[EUR][1000 genomes]
rs325446	0.95[EUR][1000 genomes]
rs325447	0.94[EUR][1000 genomes]
rs325451	0.94[EUR][1000 genomes]
rs35121681	0.97[EUR][1000 genomes]
rs35176520	0.92[EUR][1000 genomes]
rs35940771	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971861	0.90[EUR][1000 genomes]
rs3779529	0.93[EUR][1000 genomes]
rs3779530	0.92[EUR][1000 genomes]
rs3808073	0.91[JPT][hapmap]
rs3808092	0.99[EUR][1000 genomes]
rs3808093	0.89[EUR][1000 genomes]
rs3808095	0.97[EUR][1000 genomes]
rs3808097	0.97[EUR][1000 genomes]
rs3808106	0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs3808107	0.92[EUR][1000 genomes]
rs3808112	0.92[EUR][1000 genomes]
rs3824000	0.91[JPT][hapmap]
rs4731376	0.92[EUR][1000 genomes]
rs4731378	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55694225	0.91[EUR][1000 genomes]
rs56306023	0.87[EUR][1000 genomes]
rs58583807	0.97[EUR][1000 genomes]
rs6467145	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948493	0.90[JPT][hapmap]
rs6961381	0.98[EUR][1000 genomes]
rs6963455	0.99[EUR][1000 genomes]
rs6963614	0.91[JPT][hapmap]
rs6968199	0.99[EUR][1000 genomes]
rs6969880	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712712	0.92[EUR][1000 genomes]
rs712716	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73234880	0.92[EUR][1000 genomes]
rs73234882	0.93[EUR][1000 genomes]
rs73234901	0.82[EUR][1000 genomes]
rs741599	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes]
rs7458839	0.90[AFR][1000 genomes]
rs759843	0.93[EUR][1000 genomes]
rs7785050	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797663	0.97[EUR][1000 genomes]
rs7799882	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs887745	0.91[JPT][hapmap]
rs917831	0.91[JPT][hapmap]
rs917832	0.94[EUR][1000 genomes]
rs918793	0.97[EUR][1000 genomes]
rs972088	0.88[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs972089	0.92[EUR][1000 genomes]
rs972090	0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:127407400-127447600	Weak transcription	Dnd41	blood
6	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
7	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
8	chr7:127423200-127440000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:127423600-127447400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127426200-127439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:127427600-127438800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:127427600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:127427600-127447600	Weak transcription	Thymus	Thymus
16	chr7:127429800-127447600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:127429800-127448200	Weak transcription	A549	lung
18	chr7:127430800-127444400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:127431000-127447600	Weak transcription	Fetal Thymus	thymus
20	chr7:127431000-127449000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:127431400-127447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:127431600-127449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:127432000-127442800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:127432000-127447600	Weak transcription	NHLF	lung
25	chr7:127432000-127448800	Weak transcription	NHDF-Ad	bronchial
26	chr7:127432400-127444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:127432400-127446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:127432400-127447600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:127432600-127447400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:127432600-127447600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:127433800-127442400	Weak transcription	GM12878-XiMat	blood
32	chr7:127434000-127438600	Weak transcription	Psoas Muscle	Psoas
33	chr7:127434000-127438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:127434000-127439800	Weak transcription	HepG2	liver
35	chr7:127434400-127439200	Weak transcription	Liver	Liver
36	chr7:127434400-127447200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:127435000-127439800	Weak transcription	Brain Angular Gyrus	brain
38	chr7:127435000-127447400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr7:127435000-127447600	Weak transcription	Primary B cells from cord blood	blood
40	chr7:127435000-127448800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:127435000-127459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:127435400-127440200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:127435600-127447200	Weak transcription	Osteobl	bone
44	chr7:127437000-127439400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:127437200-127438600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:127437200-127438600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr7:127437200-127438600	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:127437200-127439000	Enhancers	Fetal Muscle Leg	muscle
49	chr7:127437200-127439400	Enhancers	Left Ventricle	heart
50	chr7:127437200-127439400	Enhancers	Pancreas	Pancrea

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