Variant report

Variant	rs12706872
Chromosome Location	chr7:128973182-128973183
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	chr7:128969646..128971302-chr7:128973095..128974771,3	K562	blood:
2	chr7:128968746..128971204-chr7:128973169..128975493,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10249336	0.92[EUR][1000 genomes]
rs10255583	0.92[EUR][1000 genomes]
rs11975133	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12706870	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12706873	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706874	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706876	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12706877	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706878	0.84[EUR][1000 genomes]
rs12706879	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12706880	0.84[EUR][1000 genomes]
rs12706881	0.87[EUR][1000 genomes]
rs12706882	0.84[EUR][1000 genomes]
rs12706883	0.84[EUR][1000 genomes]
rs12706884	0.84[EUR][1000 genomes]
rs13221770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13224964	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13225516	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13226919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13229264	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13230585	0.84[EUR][1000 genomes]
rs13231139	1.00[CEU][hapmap]
rs13235047	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13235721	0.85[EUR][1000 genomes]
rs13236334	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13240434	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13240872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13241894	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13242728	1.00[CEU][hapmap]
rs13242765	1.00[CEU][hapmap]
rs13244886	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13245699	0.87[EUR][1000 genomes]
rs13245719	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13246455	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2016607	1.00[CEU][hapmap]
rs2718099	0.92[EUR][1000 genomes]
rs34026893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34071868	0.87[EUR][1000 genomes]
rs34100080	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34134934	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34285950	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34534484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34535486	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34643315	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34651338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34659337	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34691806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34698607	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34721141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34783919	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34822917	0.84[EUR][1000 genomes]
rs34853082	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34867290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34890000	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35060087	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35064108	0.84[EUR][1000 genomes]
rs35120382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35195965	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35239026	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35381790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35386880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35552948	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35654453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35695777	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35730873	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35866593	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35891284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36016296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36033343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36113794	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4338039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467239	0.92[EUR][1000 genomes]
rs71529418	0.92[EUR][1000 genomes]
rs71577835	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577839	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71577849	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577875	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71579838	0.84[EUR][1000 genomes]
rs71579847	0.84[EUR][1000 genomes]
rs71579850	0.84[EUR][1000 genomes]
rs71579851	0.84[EUR][1000 genomes]
rs71579852	0.84[EUR][1000 genomes]
rs71579854	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128956000-128977400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:128958000-128981000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:128960400-128973200	Weak transcription	Small Intestine	intestine
4	chr7:128964200-128981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:128964400-128976200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:128964600-128981000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:128964800-128976400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:128965200-128984200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:128965400-128974200	Weak transcription	Primary T cells from cord blood	blood
10	chr7:128965400-128994600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:128965600-128978200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:128965800-128980800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:128965800-128995800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:128972000-128973200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:128972000-128973200	Enhancers	NH-A	brain
16	chr7:128972000-128973400	Enhancers	NHDF-Ad	bronchial
17	chr7:128972000-128973400	Enhancers	Osteobl	bone
18	chr7:128972200-128973200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:128972200-128973200	Enhancers	NHEK	skin
20	chr7:128972400-128973200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:128972400-128973200	Enhancers	HUVEC	blood vessel
22	chr7:128972600-128973200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:128972600-128973200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:128972600-128973600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:128972600-128981200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:128972800-128973200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:128972800-128973200	Enhancers	NHLF	lung
28	chr7:128972800-128973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:128972800-128973400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:128972800-128973400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:128972800-128978800	Weak transcription	HMEC	breast
32	chr7:128972800-128984000	Weak transcription	HSMMtube	muscle
33	chr7:128972800-128984200	Weak transcription	HSMM	muscle
34	chr7:128973000-128973200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:128973000-128973400	Enhancers	A549	lung

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