Variant report

Variant	rs12706870
Chromosome Location	chr7:128913967-128913968
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10249336	0.84[EUR][1000 genomes]
rs10255583	0.84[EUR][1000 genomes]
rs1061275	0.84[EUR][1000 genomes]
rs1061282	0.84[EUR][1000 genomes]
rs1061283	0.84[EUR][1000 genomes]
rs11975133	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12706872	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12706873	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12706874	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12706876	0.85[AMR][1000 genomes]
rs12706877	0.85[AMR][1000 genomes]
rs12706879	0.85[AMR][1000 genomes]
rs13221770	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13223446	0.80[EUR][1000 genomes]
rs13224964	0.84[AMR][1000 genomes]
rs13225516	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13226919	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13229264	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13231139	0.80[EUR][1000 genomes]
rs13235047	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13236334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13240434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13240872	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13241894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13242728	0.84[EUR][1000 genomes]
rs13242765	0.84[EUR][1000 genomes]
rs13244886	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13245719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13246455	0.85[AMR][1000 genomes]
rs2016607	0.84[EUR][1000 genomes]
rs2718099	0.84[EUR][1000 genomes]
rs34026893	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34100080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34134934	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34285950	0.85[AMR][1000 genomes]
rs34534484	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34535486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34643315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34651338	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34659337	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34691806	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34698607	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34721141	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34783919	0.85[AMR][1000 genomes]
rs34853082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34867290	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34890000	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34894139	0.80[EUR][1000 genomes]
rs34989446	0.84[EUR][1000 genomes]
rs35060087	0.85[AMR][1000 genomes]
rs35120382	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35195965	0.85[AMR][1000 genomes]
rs35239026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35381790	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35386880	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35506900	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35552948	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35654453	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35678076	0.84[EUR][1000 genomes]
rs35695777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35730873	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35866593	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35891284	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36016296	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36033343	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36113794	0.84[AMR][1000 genomes]
rs4338039	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6467239	0.84[EUR][1000 genomes]
rs71529418	0.84[EUR][1000 genomes]
rs71577835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577839	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71577849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71577853	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577868	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577869	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71577875	0.84[AMR][1000 genomes];0.92[EUR][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	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128892600-128914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:128897400-128914200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:128897400-128919400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:128898800-128919600	Weak transcription	Right Ventricle	heart
5	chr7:128900000-128925000	Weak transcription	Psoas Muscle	Psoas
6	chr7:128902600-128914200	Weak transcription	Esophagus	oesophagus
7	chr7:128902600-128914200	Weak transcription	Gastric	stomach
8	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:128902800-128914000	Weak transcription	Primary T cells from cord blood	blood
10	chr7:128902800-128928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:128903000-128929200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:128903200-128914200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:128903200-128925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:128903400-128931400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:128903400-128933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:128905200-128922800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:128905800-128932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:128906000-128914000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:128907800-128924400	Weak transcription	Small Intestine	intestine
20	chr7:128909800-128925600	Weak transcription	Left Ventricle	heart
21	chr7:128910200-128924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:128910400-128914200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:128911000-128934400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:128911800-128914000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:128911800-128921400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:128911800-128925000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:128911800-128930600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:128912000-128925000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:128912000-128925000	Weak transcription	Ovary	ovary
30	chr7:128912000-128927000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:128912200-128914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:128912200-128925600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
34	chr7:128913200-128914000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr7:128913200-128914400	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr7:128913200-128914800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:128913200-128916200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:128913200-128940800	Weak transcription	Aorta	Aorta
39	chr7:128913400-128914200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:128913400-128914400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr7:128913400-128914400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:128913400-128914600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr7:128913400-128914600	ZNF genes & repeats	NHEK	skin
44	chr7:128913400-128915200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:128913400-128926000	Weak transcription	Fetal Thymus	thymus
46	chr7:128913600-128914000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr7:128913600-128914000	Weak transcription	Liver	Liver
48	chr7:128913600-128914200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr7:128913600-128914200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr7:128913600-128914400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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