Variant report

Variant	rs12706625
Chromosome Location	chr7:124525182-124525183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:124514345..124516702-chr7:124522638..124525470,2	K562	blood:
2	chr7:124523515..124526179-chr7:124527945..124529532,2	MCF-7	breast:
3	chr7:124523248..124524832-chr7:124524843..124527299,2	K562	blood:
4	chr7:124524737..124527454-chr7:124559196..124561248,2	K562	blood:
5	chr7:124518995..124522486-chr7:124524978..124527724,3	K562	blood:
6	chr7:124509328..124512200-chr7:124525165..124526701,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10230948	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10234698	0.87[ASN][1000 genomes]
rs10241745	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10256073	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10266152	0.93[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap]
rs10268290	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10280030	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1031952	0.87[CHB][hapmap]
rs1034794	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1034795	0.85[ASN][1000 genomes]
rs10954061	1.00[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap]
rs11761435	1.00[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap]
rs11766412	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767519	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770818	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772420	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11972411	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978268	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12532038	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12533661	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534967	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12534983	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537983	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538061	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539481	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706627	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222197	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13228358	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1404897	1.00[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap]
rs1471570	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs1541417	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1552116	0.80[CHB][hapmap];0.93[GIH][hapmap]
rs1552117	0.80[CHB][hapmap];0.93[GIH][hapmap]
rs17147465	0.87[ASN][1000 genomes]
rs17147723	1.00[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17147889	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs2101100	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2127968	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2127969	0.83[EUR][1000 genomes]
rs2127970	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2291207	0.93[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299904	0.93[CHB][hapmap]
rs2402754	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2402761	0.82[EUR][1000 genomes]
rs28820412	0.83[EUR][1000 genomes]
rs2929322	0.86[ASW][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap]
rs33964002	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326887	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35146319	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35423300	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35550222	0.84[ASN][1000 genomes]
rs4141073	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4141075	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]
rs4360236	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4501522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639456	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs4728005	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs4728007	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4731210	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60678110	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62480260	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62480274	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466951	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466959	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943703	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943797	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945563	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946962	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963885	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965957	0.85[CHB][hapmap]
rs6968018	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs716991	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7782296	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7782351	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784168	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7784285	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786989	0.83[EUR][1000 genomes]
rs7787570	0.82[EUR][1000 genomes]
rs7787804	0.91[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7794637	0.86[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.92[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795610	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7796751	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7801755	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804052	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806890	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656320	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs967297	0.93[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
2	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
5	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:124466800-124540800	Weak transcription	Gastric	stomach
8	chr7:124467600-124530600	Weak transcription	NH-A	brain
9	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
11	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
12	chr7:124488400-124531200	Weak transcription	Osteobl	bone
13	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:124498000-124529000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
16	chr7:124502200-124528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:124503000-124531000	Weak transcription	GM12878-XiMat	blood
18	chr7:124503600-124528600	Weak transcription	Liver	Liver
19	chr7:124503800-124528600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:124503800-124529000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:124503800-124529200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:124503800-124529400	Weak transcription	Left Ventricle	heart
23	chr7:124504200-124529200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:124504200-124530400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:124505600-124531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:124506600-124540600	Weak transcription	Aorta	Aorta
27	chr7:124506800-124527600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:124506800-124540600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:124507000-124528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:124507000-124528600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:124507000-124529400	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:124507200-124528800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:124507200-124529000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:124507200-124529000	Weak transcription	Fetal Lung	lung
35	chr7:124507200-124529200	Weak transcription	HSMM	muscle
36	chr7:124507200-124531000	Weak transcription	K562	blood
37	chr7:124507400-124529000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:124507600-124528600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:124507600-124528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:124507600-124528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:124507600-124529200	Weak transcription	Ovary	ovary
42	chr7:124508000-124529000	Weak transcription	Dnd41	blood
43	chr7:124518000-124535200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:124519200-124530600	Weak transcription	Fetal Thymus	thymus
45	chr7:124520200-124531000	Weak transcription	Brain Angular Gyrus	brain
46	chr7:124520200-124534400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:124520400-124534600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:124520400-124534800	Weak transcription	Brain Substantia Nigra	brain
49	chr7:124521800-124529400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:124522200-124530600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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