Variant report

Variant	rs12531440
Chromosome Location	chr7:127392607-127392608
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127382791..127385183-chr7:127391809..127394615,2	K562	blood:
2	chr7:127381539..127384291-chr7:127391667..127394615,2	K562	blood:
3	chr7:127386857..127389329-chr7:127391542..127393084,2	MCF-7	breast:
4	chr7:127389289..127393193-chr7:127394963..127397566,4	K562	blood:
5	chr7:127390567..127392774-chr7:127400064..127401967,2	MCF-7	breast:
6	chr7:127390841..127392796-chr7:127409472..127412228,2	K562	blood:
7	chr7:127392140..127396702-chr7:127397073..127402376,5	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215276	0.89[ASN][1000 genomes]
rs10251423	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251548	0.92[EUR][1000 genomes]
rs10255861	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10260037	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1029927	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075206	0.81[ASN][1000 genomes]
rs10954163	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11521053	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971935	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972774	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976841	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976946	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977012	0.85[ASN][1000 genomes]
rs11977915	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11980318	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12533846	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539728	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540865	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237048	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362268	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs141450	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419969	0.83[ASN][1000 genomes]
rs16885524	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151241	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151270	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151466	0.85[YRI][hapmap]
rs17716738	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17718395	0.96[ASN][1000 genomes]
rs1860934	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881084	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016786	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2043982	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119452	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402867	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402870	0.98[EUR][1000 genomes]
rs325440	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325442	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325444	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325445	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325446	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325447	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325451	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327518	0.85[CHB][hapmap]
rs35121681	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176520	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.98[EUR][1000 genomes]
rs35971861	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779529	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779530	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808087	0.83[ASN][1000 genomes]
rs3808092	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808093	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808095	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808097	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808105	0.85[ASN][1000 genomes]
rs3808106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808107	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808112	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4728077	0.85[ASN][1000 genomes]
rs4731376	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731378	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55694225	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58583807	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467145	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6948493	1.00[JPT][hapmap]
rs6961381	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963455	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968199	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969880	0.93[EUR][1000 genomes]
rs712712	0.92[EUR][1000 genomes]
rs712716	1.00[CEU][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs73234861	0.85[ASN][1000 genomes]
rs73234862	0.85[ASN][1000 genomes]
rs73234880	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.96[ASN][1000 genomes]
rs73234901	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs741599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.94[EUR][1000 genomes]
rs7786041	0.89[ASN][1000 genomes]
rs7797663	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799882	0.98[EUR][1000 genomes]
rs887745	1.00[JPT][hapmap]
rs917831	1.00[JPT][hapmap]
rs917832	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs918793	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972089	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
2	chr7:127372200-127395600	Weak transcription	Thymus	Thymus
3	chr7:127372600-127394600	Weak transcription	Ovary	ovary
4	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:127375200-127395800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:127375600-127401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
9	chr7:127377000-127409200	Weak transcription	NHLF	lung
10	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:127378800-127401200	Weak transcription	Placenta	Placenta
12	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
13	chr7:127380000-127409200	Weak transcription	Aorta	Aorta
14	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
15	chr7:127382200-127394600	Weak transcription	Spleen	Spleen
16	chr7:127383000-127394600	Weak transcription	Right Atrium	heart
17	chr7:127383600-127393200	Strong transcription	GM12878-XiMat	blood
18	chr7:127386600-127399800	Weak transcription	Fetal Intestine Large	intestine
19	chr7:127387000-127395000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:127388400-127394400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127388400-127394600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:127388400-127406200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:127388600-127393600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:127388600-127407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:127388600-127407000	Weak transcription	Dnd41	blood
26	chr7:127389000-127394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:127389000-127394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:127389000-127394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:127389000-127406000	Weak transcription	NHEK	skin
30	chr7:127389200-127395000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:127389800-127393000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:127390000-127395800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:127390000-127399800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:127390200-127394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:127390200-127395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:127390200-127400000	Weak transcription	Fetal Intestine Small	intestine
37	chr7:127390200-127407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:127390400-127393000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:127390400-127395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:127390400-127403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:127390600-127397800	Weak transcription	A549	lung
42	chr7:127390800-127393200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:127390800-127395600	Enhancers	Liver	Liver
44	chr7:127391200-127396000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:127391400-127394600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:127391400-127395400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:127391400-127404200	Weak transcription	Fetal Brain Male	brain
48	chr7:127391600-127393800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:127391600-127394000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:127391600-127394600	Weak transcription	Colon Smooth Muscle	Colon

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