Variant report

Variant	rs1014270
Chromosome Location	chr7:110713375-110713376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1014269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237613	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10241771	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10257531	0.84[EUR][1000 genomes]
rs10269177	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12705758	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13238719	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214841	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214842	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs214844	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214845	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs214846	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214847	0.80[EUR][1000 genomes]
rs214848	0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs214849	0.84[EUR][1000 genomes]
rs214850	0.84[EUR][1000 genomes]
rs214851	0.84[EUR][1000 genomes]
rs214853	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214854	0.84[EUR][1000 genomes]
rs214855	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214856	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214857	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214858	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214859	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214860	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214861	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214862	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214863	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214864	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214865	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214866	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214867	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214868	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs214869	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214870	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214871	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214872	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214873	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214874	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214877	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214878	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214879	0.84[EUR][1000 genomes]
rs214880	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214881	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs214882	0.84[EUR][1000 genomes]
rs214886	0.84[EUR][1000 genomes]
rs214887	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396302	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28590134	0.84[EUR][1000 genomes]
rs4236594	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730474	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57817514	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57971786	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58799975	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59902560	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60913915	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6466372	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964177	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801913	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808895	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799639	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs996595	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110690800-110714400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:110705600-110714000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:110707000-110714800	Enhancers	Primary T cells from cord blood	blood
4	chr7:110707600-110717800	Weak transcription	Right Atrium	heart
5	chr7:110711200-110715000	Enhancers	Dnd41	blood
6	chr7:110712000-110713800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:110712000-110715000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:110712000-110715800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:110712200-110714000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:110712400-110713600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:110712400-110714200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:110712400-110714800	Enhancers	HepG2	liver
13	chr7:110712600-110713600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:110712600-110713600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:110712600-110714000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:110712600-110714800	Enhancers	Adipose Nuclei	Adipose
17	chr7:110712800-110713600	Weak transcription	K562	blood
18	chr7:110712800-110714400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:110712800-110716400	Weak transcription	Fetal Thymus	thymus
20	chr7:110713000-110715200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:110713200-110713400	Enhancers	NHDF-Ad	bronchial
22	chr7:110713200-110713400	Enhancers	NHLF	lung
23	chr7:110713200-110713400	Enhancers	Osteobl	bone
24	chr7:110713200-110714600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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