Variant report

Variant	rs7808616
Chromosome Location	chr7:112492312-112492313
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112490671..112492879-chr7:112499441..112501891,2	K562	blood:
2	chr7:112430328..112432743-chr7:112492243..112495495,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146802	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10238492	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs10243834	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10249952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10272143	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10273589	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs10275208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10280618	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280825	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044262	0.92[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762737	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11768408	0.84[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11768787	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11769037	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1227163	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1227174	0.82[CHB][hapmap]
rs1227181	0.82[CHB][hapmap]
rs1227190	0.82[CHB][hapmap]
rs1238698	0.82[CHB][hapmap]
rs12535487	0.82[CHB][hapmap]
rs12539085	1.00[CHB][hapmap]
rs1530756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1547554	1.00[CHB][hapmap]
rs17160078	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1718967	1.00[CHB][hapmap]
rs17405723	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1796492	0.82[CHB][hapmap]
rs1796493	0.82[CHB][hapmap]
rs1796516	0.82[CHB][hapmap]
rs1976897	0.83[ASN][1000 genomes]
rs1992988	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1996843	1.00[CHB][hapmap]
rs2396570	0.92[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs2396574	1.00[CHB][hapmap]
rs2396583	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457	0.82[CHB][hapmap]
rs2687267	1.00[CHB][hapmap]
rs2708296	0.82[CHB][hapmap]
rs3957315	0.84[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs3997335	1.00[CHB][hapmap]
rs494324	1.00[CHB][hapmap]
rs549688	0.82[CHB][hapmap]
rs552304	1.00[CHB][hapmap]
rs56012709	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs564494	1.00[CHB][hapmap]
rs62472536	0.86[ASN][1000 genomes]
rs62491097	0.83[ASN][1000 genomes]
rs62491099	0.83[ASN][1000 genomes]
rs6466421	0.82[CHB][hapmap]
rs6466423	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672911	1.00[CHB][hapmap]
rs685259	1.00[CHB][hapmap]
rs6944843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6953522	1.00[CHB][hapmap]
rs7777973	0.82[CHB][hapmap]
rs7781871	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7803405	0.82[CHB][hapmap]
rs7806781	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs821783	1.00[CHB][hapmap]
rs821785	1.00[CHB][hapmap]
rs821787	1.00[CHB][hapmap]
rs9969347	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112493000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:112470800-112498000	Weak transcription	Fetal Kidney	kidney
5	chr7:112470800-112502800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:112470800-112506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:112470800-112533200	Weak transcription	HSMM	muscle
8	chr7:112471800-112495400	Weak transcription	Left Ventricle	heart
9	chr7:112471800-112502000	Weak transcription	Fetal Stomach	stomach
10	chr7:112471800-112511200	Weak transcription	HSMMtube	muscle
11	chr7:112471800-112545200	Weak transcription	Ovary	ovary
12	chr7:112472000-112497800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:112472000-112506400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:112472200-112493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:112472200-112513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:112472200-112517800	Weak transcription	Osteobl	bone
18	chr7:112472600-112503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:112472800-112505400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:112478400-112506400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:112479600-112493600	Weak transcription	Primary T cells from cord blood	blood
23	chr7:112483200-112493600	Weak transcription	Small Intestine	intestine
24	chr7:112486200-112506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:112486800-112493400	Weak transcription	Fetal Heart	heart
26	chr7:112487200-112503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:112488200-112492400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:112488200-112497800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:112488400-112492800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:112488600-112492600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:112488600-112499600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:112490000-112497800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:112490000-112504000	Weak transcription	Fetal Thymus	thymus
34	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:112491200-112492600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:112491200-112508600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:112491800-112492600	ZNF genes & repeats	Dnd41	blood
38	chr7:112492000-112492600	Strong transcription	Primary B cells from cord blood	blood
39	chr7:112492000-112492600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr7:112492200-112492600	ZNF genes & repeats	Fetal Lung	lung
41	chr7:112492200-112506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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