Variant report

Variant	rs214885
Chromosome Location	chr7:110745793-110745794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10261591	0.85[JPT][hapmap]
rs10273636	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1034698	0.85[JPT][hapmap]
rs10487304	0.85[JPT][hapmap]
rs10953682	0.85[JPT][hapmap]
rs10953683	0.85[JPT][hapmap]
rs12669471	0.82[JPT][hapmap]
rs13238762	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs1476560	0.82[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs17158333	0.85[JPT][hapmap]
rs2107145	0.85[JPT][hapmap]
rs214852	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs214876	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs214883	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs214884	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214888	0.88[ASW][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214890	0.84[JPT][hapmap]
rs214891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs214892	0.85[JPT][hapmap]
rs214897	0.85[JPT][hapmap]
rs2189323	0.85[JPT][hapmap]
rs2189324	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2189325	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4730477	0.85[JPT][hapmap]
rs4730479	0.85[JPT][hapmap]
rs4730481	0.85[JPT][hapmap]
rs4730482	0.85[JPT][hapmap]
rs4730484	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57719624	0.87[ASN][1000 genomes]
rs6466375	0.85[JPT][hapmap]
rs7778044	0.85[JPT][hapmap]
rs7789480	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7792161	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs964501	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1035119	chr7:110745019-111258501	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110733800-110747200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:110734800-110761800	Weak transcription	Left Ventricle	heart
3	chr7:110734800-110762800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:110735000-110747400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:110736000-110747600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:110737400-110751600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:110737400-110767000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:110738800-110748000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:110739000-110747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:110739200-110763000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:110739400-110746800	Weak transcription	Fetal Brain Female	brain
12	chr7:110740000-110746600	Genic enhancers	Primary T cells from cord blood	blood
13	chr7:110740200-110748200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:110743600-110746400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:110743800-110745800	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:110744000-110745800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:110744000-110746400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:110744000-110748600	Enhancers	Fetal Lung	lung
19	chr7:110744200-110746600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:110744400-110746400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:110744400-110753600	Weak transcription	NHEK	skin
22	chr7:110744800-110746000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:110744800-110748600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:110745000-110747600	Weak transcription	Brain Substantia Nigra	brain
25	chr7:110745000-110748200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:110745000-110749000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:110745000-110754400	Weak transcription	Fetal Brain Male	brain
28	chr7:110745000-110762800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:110745200-110745800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:110745200-110745800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:110745200-110759800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:110745400-110746400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:110745600-110745800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:110745600-110746600	Weak transcription	Brain Germinal Matrix	brain
35	chr7:110745600-110747400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:110745600-110770000	Weak transcription	Brain Anterior Caudate	brain

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