Variant report

Variant	rs6717457
Chromosome Location	chr2:178296625-178296626
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	chr2:178262134..178264681-chr2:178295716..178297615,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10172305	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10176724	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10180514	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184488	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190306	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10194452	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10208055	0.86[EUR][1000 genomes]
rs10497504	0.91[AFR][1000 genomes]
rs10497505	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10497506	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10497509	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10754987	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10754988	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10803911	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10803912	0.91[AFR][1000 genomes]
rs10930788	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930789	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10930790	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930791	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930793	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930796	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11891003	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12468046	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12478545	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12612957	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12621156	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12693121	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12990729	0.87[AFR][1000 genomes]
rs12997516	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13007779	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1345138	0.91[AFR][1000 genomes]
rs1348852	0.81[AMR][1000 genomes]
rs1349762	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1374438	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1446837	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1446838	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1453369	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1530965	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1545363	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1584806	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17326999	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17398864	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1838890	0.91[AFR][1000 genomes]
rs1867905	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1901823	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1979059	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2044493	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2084966	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2084967	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2100395	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123643	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2141157	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2166556	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2166557	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2167902	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178017	0.82[AFR][1000 genomes]
rs2218575	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2293475	0.91[AFR][1000 genomes]
rs2364846	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2364849	0.94[EUR][1000 genomes]
rs2364850	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2364851	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364852	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2365616	0.81[AMR][1000 genomes]
rs3754989	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813260	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3952496	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4144278	0.85[AFR][1000 genomes]
rs4243389	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4308151	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335983	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4350784	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4402804	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4585065	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4893822	0.89[AFR][1000 genomes]
rs4893824	0.89[AFR][1000 genomes]
rs4893825	0.84[AFR][1000 genomes]
rs4893826	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4893827	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4893829	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4893933	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4893940	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893942	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893943	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893951	0.89[AFR][1000 genomes]
rs4893955	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893956	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs57890299	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6433664	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433666	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433672	0.82[AFR][1000 genomes]
rs6433674	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6433675	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6433676	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6433677	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6710109	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6715365	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6719114	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6720483	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6721168	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6723014	0.91[AFR][1000 genomes]
rs6725096	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732250	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739792	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6741974	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6744488	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6752779	0.81[AMR][1000 genomes]
rs6754660	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6759567	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7568452	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7570297	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582179	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7585952	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7588049	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7589927	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7594073	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7601132	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604299	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7604668	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7607073	0.94[AFR][1000 genomes]
rs7608135	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9288001	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs935426	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9789580	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9917193	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9917333	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr2:178287000-178296800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:178287200-178300000	Weak transcription	Hela-S3	cervix
3	chr2:178287200-178310600	Weak transcription	Stomach Mucosa	stomach
4	chr2:178287600-178314200	Weak transcription	Gastric	stomach
5	chr2:178288000-178297600	Weak transcription	HUVEC	blood vessel
6	chr2:178289400-178299400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:178291000-178299400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:178291600-178299200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr2:178291800-178299000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr2:178291800-178299200	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr2:178292800-178299400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr2:178293600-178298800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr2:178293800-178298800	ZNF genes & repeats	Dnd41	blood
14	chr2:178293800-178299000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:178294000-178297000	ZNF genes & repeats	Fetal Thymus	thymus
16	chr2:178294000-178297800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr2:178294000-178299400	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr2:178294200-178297000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:178294200-178297800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:178294200-178297800	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr2:178294200-178298400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr2:178294200-178299400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:178294400-178296800	ZNF genes & repeats	Placenta	Placenta
24	chr2:178294400-178298800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr2:178295000-178297000	Weak transcription	Fetal Kidney	kidney
26	chr2:178295000-178297400	Weak transcription	Ovary	ovary
27	chr2:178295200-178297400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:178295400-178297000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:178295400-178297000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:178295400-178297000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:178295400-178297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:178295400-178297400	Weak transcription	A549	lung
33	chr2:178295400-178297400	Weak transcription	HSMM	muscle
34	chr2:178295400-178297600	Weak transcription	Fetal Intestine Large	intestine
35	chr2:178295400-178297600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:178295400-178329800	Weak transcription	Pancreas	Pancrea
37	chr2:178295400-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:178295400-178330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:178295600-178296800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:178295600-178297000	Weak transcription	K562	blood
41	chr2:178295600-178298000	Weak transcription	NHDF-Ad	bronchial
42	chr2:178295600-178306200	Weak transcription	Osteobl	bone
43	chr2:178296000-178298400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr2:178296000-178298800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:178296000-178299200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr2:178296200-178298800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr2:178296200-178299200	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr2:178296400-178296800	Weak transcription	HepG2	liver
49	chr2:178296400-178297400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:178296400-178298800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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