Variant report

Variant	rs12671792
Chromosome Location	chr7:110714799-110714800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10233469	0.90[ASN][1000 genomes]
rs10251869	0.87[ASN][1000 genomes]
rs10257075	0.82[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs10261004	0.84[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs10261591	0.86[JPT][hapmap]
rs10262354	0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10273636	0.82[JPT][hapmap]
rs1034698	0.86[JPT][hapmap]
rs10487304	0.86[JPT][hapmap]
rs10953679	0.88[JPT][hapmap]
rs10953682	0.86[JPT][hapmap]
rs10953683	0.86[JPT][hapmap]
rs1121497	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs119062	0.81[AMR][1000 genomes]
rs11974655	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11976211	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs11978149	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12532608	0.85[ASN][1000 genomes]
rs12669471	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13238762	0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs17158299	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17158333	0.86[JPT][hapmap]
rs2107145	0.86[JPT][hapmap]
rs214890	0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs214891	0.81[EUR][1000 genomes]
rs214892	0.90[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs214893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214896	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs214897	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs214898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2189322	0.91[CEU][hapmap]
rs2189323	0.86[JPT][hapmap]
rs2214447	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs4730477	0.86[JPT][hapmap]
rs4730478	0.88[JPT][hapmap]
rs4730479	0.86[JPT][hapmap]
rs4730481	0.86[JPT][hapmap]
rs4730482	0.86[JPT][hapmap]
rs60682653	0.91[AFR][1000 genomes]
rs6466375	0.86[JPT][hapmap]
rs6979545	1.00[JPT][hapmap]
rs6979841	1.00[JPT][hapmap]
rs73418043	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs757219	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs769129	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs769130	0.89[CEU][hapmap]
rs7778044	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7781676	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7781715	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7789480	0.88[JPT][hapmap]
rs7800862	0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.87[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110707000-110714800	Enhancers	Primary T cells from cord blood	blood
2	chr7:110707600-110717800	Weak transcription	Right Atrium	heart
3	chr7:110711200-110715000	Enhancers	Dnd41	blood
4	chr7:110712000-110715000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:110712000-110715800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:110712400-110714800	Enhancers	HepG2	liver
7	chr7:110712600-110714800	Enhancers	Adipose Nuclei	Adipose
8	chr7:110712800-110716400	Weak transcription	Fetal Thymus	thymus
9	chr7:110713000-110715200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:110713400-110715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:110713400-110715200	Enhancers	Fetal Intestine Large	intestine
12	chr7:110713400-110716000	Weak transcription	NHLF	lung
13	chr7:110713400-110716000	Weak transcription	Osteobl	bone
14	chr7:110713400-110716200	Weak transcription	NHDF-Ad	bronchial
15	chr7:110713600-110715000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:110713600-110715000	Enhancers	Fetal Intestine Small	intestine
17	chr7:110713600-110715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:110713600-110715200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:110713800-110714800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:110713800-110714800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:110713800-110714800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:110714000-110714800	Enhancers	NHEK	skin
23	chr7:110714000-110715000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:110714000-110715000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:110714000-110715000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:110714000-110715000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:110714000-110715200	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:110714200-110714800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:110714200-110715000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:110714200-110715000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:110714200-110715200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:110714200-110715400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:110714400-110714800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:110714400-110715000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:110714400-110715000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:110714400-110715000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:110714400-110715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:110714400-110715200	Enhancers	Fetal Lung	lung
39	chr7:110714600-110714800	Enhancers	K562	blood
40	chr7:110714600-110714800	Enhancers	NH-A	brain
41	chr7:110714600-110715000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:110714600-110716200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:110714600-110716400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:110714600-110720200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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