Variant report

Variant	rs6435444
Chromosome Location	chr2:209189277-209189278
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	chr2:209188864..209190973-chr2:209192506..209194308,2	K562	blood:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10171006	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10175739	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182087	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10186531	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197824	0.85[AFR][1000 genomes]
rs10197951	0.86[AFR][1000 genomes]
rs10197958	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201702	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10208004	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10208191	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208295	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10210393	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1057390	1.00[JPT][hapmap]
rs10804168	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10932256	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10932259	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11677618	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11691208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11691313	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11693993	0.94[ASN][1000 genomes]
rs11695873	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897897	1.00[JPT][hapmap]
rs12185547	1.00[EUR][1000 genomes]
rs12465862	1.00[EUR][1000 genomes]
rs12478198	1.00[EUR][1000 genomes]
rs12479282	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12617521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12618837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623816	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12694105	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12694109	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694111	0.80[AMR][1000 genomes]
rs13392540	0.86[CHB][hapmap]
rs1370370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370375	1.00[JPT][hapmap]
rs1370377	1.00[JPT][hapmap]
rs1437414	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446320	1.00[EUR][1000 genomes]
rs1446321	1.00[EUR][1000 genomes]
rs1465803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469941	1.00[ASN][1000 genomes]
rs1529976	0.84[AFR][1000 genomes]
rs1529979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595329	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16840798	0.88[CHB][hapmap]
rs16840864	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16840898	1.00[EUR][1000 genomes]
rs16840910	1.00[EUR][1000 genomes]
rs16840936	1.00[EUR][1000 genomes]
rs16841092	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16841231	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841233	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16841234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1838794	1.00[EUR][1000 genomes]
rs1838795	1.00[EUR][1000 genomes]
rs1838796	1.00[EUR][1000 genomes]
rs1866044	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866045	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898436	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1898437	0.85[ASN][1000 genomes]
rs2028146	1.00[EUR][1000 genomes]
rs2043720	1.00[EUR][1000 genomes]
rs2044457	1.00[EUR][1000 genomes]
rs2118295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2118296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196604	0.82[AFR][1000 genomes]
rs2304544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363463	1.00[EUR][1000 genomes]
rs2363468	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363469	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363579	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885785	1.00[EUR][1000 genomes]
rs2885786	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3856350	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4462735	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4499359	0.85[AFR][1000 genomes]
rs4673385	1.00[EUR][1000 genomes]
rs4673386	1.00[EUR][1000 genomes]
rs4673390	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4673392	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4673395	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4673396	0.86[AFR][1000 genomes]
rs4675745	1.00[EUR][1000 genomes]
rs4675747	1.00[EUR][1000 genomes]
rs4675748	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4675750	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4675751	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4675754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675757	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4675758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4675760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4675761	0.94[ASN][1000 genomes]
rs57553077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57797425	1.00[EUR][1000 genomes]
rs59149007	1.00[ASN][1000 genomes]
rs6435436	1.00[EUR][1000 genomes]
rs6435437	1.00[EUR][1000 genomes]
rs6435441	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435443	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435450	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6435454	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6705163	1.00[EUR][1000 genomes]
rs6708926	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709286	0.83[AFR][1000 genomes]
rs6711933	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6713477	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720289	0.82[AFR][1000 genomes]
rs6721780	1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725932	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6733607	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734963	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742461	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6751982	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6758207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7355562	0.94[ASN][1000 genomes]
rs7564882	1.00[EUR][1000 genomes]
rs7569723	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7574324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7576852	1.00[EUR][1000 genomes]
rs7580715	1.00[EUR][1000 genomes]
rs7581075	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7583022	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7592472	0.94[ASN][1000 genomes]
rs7605498	1.00[EUR][1000 genomes]
rs893253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs893254	0.83[AFR][1000 genomes]
rs893255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893256	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9283521	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934714	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959660	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs959855	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962595	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9646839	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs976247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
4	chr2:209170000-209190000	Weak transcription	Right Ventricle	heart
5	chr2:209170200-209189600	Weak transcription	Colonic Mucosa	Colon
6	chr2:209179000-209190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:209180400-209189800	Weak transcription	Esophagus	oesophagus
9	chr2:209180400-209189800	Weak transcription	Hela-S3	cervix
10	chr2:209180400-209190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:209180600-209190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:209180600-209190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:209180600-209190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
15	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:209183200-209189600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:209183200-209189800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:209183200-209190000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:209183200-209190000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:209183200-209193800	Weak transcription	Fetal Brain Male	brain
21	chr2:209183400-209189600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:209183400-209189600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:209183800-209190000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:209183800-209190200	Weak transcription	NHEK	skin
25	chr2:209184400-209189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:209184400-209189800	Weak transcription	Psoas Muscle	Psoas
27	chr2:209184400-209190000	Weak transcription	Spleen	Spleen
28	chr2:209184600-209201400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:209185800-209189600	Weak transcription	Ovary	ovary
31	chr2:209185800-209189800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:209185800-209190000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:209186000-209190000	Weak transcription	Aorta	Aorta
34	chr2:209186200-209194000	Weak transcription	Fetal Heart	heart
35	chr2:209186400-209189600	Weak transcription	K562	blood
36	chr2:209186800-209189800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:209187000-209189600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:209187000-209189600	Weak transcription	Lung	lung
39	chr2:209187200-209189600	Weak transcription	Fetal Stomach	stomach
40	chr2:209187200-209190200	Weak transcription	Fetal Intestine Small	intestine
41	chr2:209188000-209201000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:209188400-209213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:209188600-209214200	Strong transcription	Placenta	Placenta
46	chr2:209188800-209189400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:209188800-209190000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:209188800-209190600	Strong transcription	HMEC	breast
49	chr2:209188800-209190800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:209188800-209190800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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