Variant report

Variant	rs12210230
Chromosome Location	chr6:45344854-45344855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:74033540..74034519-chr6:45344800..45345751,2	Hela-S3	cervix:
2	chr6:45343131..45346998-chr6:45386286..45389886,4	MCF-7	breast:
3	chr6:45290102..45292496-chr6:45343857..45345735,2	K562	blood:
4	chr6:45332930..45339216-chr6:45342239..45349440,11	K562	blood:
5	chr6:45293709..45297564-chr6:45344489..45347736,3	K562	blood:
6	chr6:45328959..45331419-chr6:45344647..45347032,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10456122	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10456543	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10456546	0.85[EUR][1000 genomes]
rs10456547	0.84[EUR][1000 genomes]
rs10456548	0.85[EUR][1000 genomes]
rs10456549	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10807321	0.85[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10948211	0.82[EUR][1000 genomes]
rs10948212	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs10948213	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10948214	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10948217	0.81[EUR][1000 genomes]
rs10948219	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948220	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948221	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10948223	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10948226	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10948233	0.82[CEU][hapmap];0.85[ASN][1000 genomes]
rs11963924	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11964690	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11964844	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11965520	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11966878	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11968637	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12153922	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12190367	0.81[EUR][1000 genomes]
rs12191262	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12191566	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12191751	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12192890	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12193030	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12194628	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12194682	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12196217	0.85[EUR][1000 genomes]
rs12197755	0.83[CEU][hapmap]
rs12198376	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs12199256	0.91[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12199507	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12199871	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12201555	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12201563	0.85[ASN][1000 genomes]
rs12201899	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12202232	0.85[EUR][1000 genomes]
rs12202434	0.82[EUR][1000 genomes]
rs12203052	0.83[CEU][hapmap]
rs12203466	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12203558	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12205379	0.85[EUR][1000 genomes]
rs12205468	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12205523	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12205642	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12205860	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12205905	0.83[EUR][1000 genomes]
rs12206561	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12206568	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12211510	0.85[ASN][1000 genomes]
rs12211519	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12211923	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12212745	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12213644	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12213735	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12214749	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12214885	0.83[EUR][1000 genomes]
rs12216308	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1321078	0.83[CEU][hapmap]
rs1321079	0.82[CEU][hapmap];0.85[ASN][1000 genomes]
rs1321080	0.86[CEU][hapmap];0.85[ASN][1000 genomes]
rs17209678	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17209741	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17209769	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17288250	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17288257	1.00[CEU][hapmap]
rs17288320	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17288327	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1852983	0.85[ASN][1000 genomes]
rs1852984	0.85[ASN][1000 genomes]
rs1853651	0.85[EUR][1000 genomes]
rs2093900	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs28583363	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4267941	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4288203	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4400216	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4443508	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4478406	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4479922	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4498350	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4544895	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55779653	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55964727	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56357385	0.85[EUR][1000 genomes]
rs56397204	0.83[EUR][1000 genomes]
rs58769170	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62400267	0.83[EUR][1000 genomes]
rs62400268	0.83[EUR][1000 genomes]
rs62400269	0.83[EUR][1000 genomes]
rs62400289	0.85[EUR][1000 genomes]
rs62400290	0.85[EUR][1000 genomes]
rs62400293	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62400317	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62400326	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62400330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62400335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6919813	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6919873	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6919998	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6920046	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6927213	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs72857080	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72858517	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72860105	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72862930	0.85[ASN][1000 genomes]
rs72870950	0.82[EUR][1000 genomes]
rs7449537	0.95[AMR][1000 genomes];0.93[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45343600-45345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:45343800-45345000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:45343800-45345000	Flanking Active TSS	Dnd41	blood
4	chr6:45343800-45346800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:45344000-45345000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:45344000-45345000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:45344000-45345200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:45344000-45346800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:45344000-45346800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:45344000-45347000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:45344200-45345000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:45344200-45345000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:45344200-45345000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr6:45344200-45345000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:45344200-45345000	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr6:45344200-45345000	Flanking Active TSS	HUVEC	blood vessel
17	chr6:45344200-45345000	Flanking Active TSS	NH-A	brain
18	chr6:45344200-45345000	Flanking Active TSS	Osteobl	bone
19	chr6:45344200-45345200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr6:45344200-45345200	Flanking Active TSS	NHEK	skin
21	chr6:45344200-45346400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:45344200-45346400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:45344200-45346400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:45344200-45346400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:45344200-45346600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr6:45344200-45346600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:45344200-45346800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:45344200-45347000	Active TSS	NHLF	lung
29	chr6:45344400-45345000	Flanking Active TSS	Liver	Liver
30	chr6:45344400-45345000	Weak transcription	Small Intestine	intestine
31	chr6:45344400-45345000	Flanking Active TSS	Hela-S3	cervix
32	chr6:45344400-45345000	Flanking Active TSS	HMEC	breast
33	chr6:45344400-45345200	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr6:45344400-45345200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:45344400-45345200	Active TSS	Fetal Brain Male	brain
36	chr6:45344400-45345200	Active TSS	Right Atrium	heart
37	chr6:45344400-45346400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:45344400-45346600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:45344400-45346600	Active TSS	Right Ventricle	heart
40	chr6:45344400-45346800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:45344400-45346800	Active TSS	A549	lung
42	chr6:45344400-45347200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:45344600-45345000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr6:45344600-45345000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr6:45344600-45345000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr6:45344600-45345000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:45344600-45345000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:45344600-45345000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr6:45344600-45345000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:45344600-45345000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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