Variant report

Variant	rs10496346
Chromosome Location	chr2:100853267-100853268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10496345	0.81[EUR][1000 genomes]
rs10865037	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123817	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11123818	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123819	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123820	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123821	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123823	1.00[YRI][hapmap]
rs1122231	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1160543	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1160545	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11684761	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11685491	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686372	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11687241	0.87[CEU][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11689199	0.86[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs11689201	0.88[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs11690335	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11691409	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11693324	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11694723	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11695383	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11695996	1.00[CEU][hapmap];1.00[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];0.99[ASN][1000 genomes]
rs12053126	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614880	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12615145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619178	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12987662	0.82[EUR][1000 genomes]
rs12990462	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12991254	0.81[EUR][1000 genomes]
rs12992090	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12994592	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13013169	0.80[EUR][1000 genomes]
rs13017207	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13018640	0.82[EUR][1000 genomes]
rs13019179	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13026143	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13026283	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13034176	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1465800	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1465801	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2309812	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309838	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2871344	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4303732	0.83[EUR][1000 genomes]
rs4331524	0.81[AFR][1000 genomes]
rs4583487	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4622752	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4851264	0.80[EUR][1000 genomes]
rs4851266	0.81[EUR][1000 genomes]
rs4851267	0.88[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4851268	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4851270	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4851271	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6709656	0.80[EUR][1000 genomes]
rs6750097	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6750505	0.80[EUR][1000 genomes]
rs7566527	0.80[EUR][1000 genomes]
rs893246	0.81[EUR][1000 genomes]
rs999052	0.84[EUR][1000 genomes];0.80[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100849400-100856000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:100850000-100853400	Weak transcription	Fetal Heart	heart
3	chr2:100850800-100853800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:100851000-100854600	Enhancers	Fetal Thymus	thymus
5	chr2:100851000-100855400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:100851200-100853400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:100851200-100853800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:100851200-100854800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:100851200-100855200	Enhancers	Thymus	Thymus
10	chr2:100851400-100854000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:100851600-100854600	Enhancers	Primary T cells from cord blood	blood
12	chr2:100851600-100855200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:100851800-100853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:100851800-100854000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:100851800-100854800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:100851800-100855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:100851800-100859200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:100852000-100853600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:100852000-100853800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:100852000-100857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:100852000-100859000	Weak transcription	Lung	lung
22	chr2:100852200-100854000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:100852200-100855800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:100852400-100853800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:100852400-100859000	Weak transcription	Spleen	Spleen
26	chr2:100852600-100853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:100852600-100855400	Enhancers	Primary B cells from cord blood	blood
28	chr2:100852800-100854600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:100853000-100854000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:100853000-100854200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:100853200-100853600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:100853200-100854200	Enhancers	Fetal Lung	lung

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