Variant report

Variant	rs16896600
Chromosome Location	chr8:99060482-99060483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99060387-99060663	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:99060285-99061323	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:98879599..98882619-chr8:99058852..99062253,4	MCF-7	breast:
2	chr8:99056634..99059248-chr8:99059651..99063296,8	MCF-7	breast:
3	chr8:99054555..99060747-chr8:99127722..99132697,23	MCF-7	breast:
4	chr8:99056304..99059597-chr8:99060333..99064411,5	K562	blood:

Variant related genes	Relation type
RPL30	TF binding region
RNU6-703P	TF binding region
ENSG00000156482	Chromatin interaction
ENSG00000104356	Chromatin interaction
ENSG00000132561	Chromatin interaction
ENSG00000132541	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11994638	0.91[CHB][hapmap];0.87[EUR][1000 genomes]
rs12375372	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12674810	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes]
rs12680911	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1378121	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16892217	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16896467	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16896468	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16896471	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16896476	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16896514	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16896518	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes]
rs16896521	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16896531	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes]
rs16896564	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869607	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1961270	0.87[EUR][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2061053	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2290473	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2513844	1.00[CEU][hapmap]
rs34354078	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4734381	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735516	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4735519	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59704264	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60346298	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60580631	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6980810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7018411	0.80[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72678728	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72678762	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7830701	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes]
rs7843262	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99059000-99060800	Weak transcription	Ovary	ovary
2	chr8:99059000-99061200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:99059000-99063400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:99059200-99061000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:99059200-99061400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:99059200-99061400	Weak transcription	K562	blood
7	chr8:99059200-99061600	Weak transcription	Brain Germinal Matrix	brain
8	chr8:99059200-99061600	Weak transcription	Spleen	Spleen
9	chr8:99059200-99061600	Weak transcription	HMEC	breast
10	chr8:99059200-99061800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:99059200-99061800	Weak transcription	Brain Substantia Nigra	brain
12	chr8:99059200-99061800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:99059200-99061800	Weak transcription	Fetal Stomach	stomach
14	chr8:99059200-99061800	Weak transcription	NHDF-Ad	bronchial
15	chr8:99059200-99061800	Weak transcription	Osteobl	bone
16	chr8:99059200-99062000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:99059200-99062000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:99059200-99062000	Weak transcription	Right Ventricle	heart
19	chr8:99059200-99062000	Weak transcription	HSMM	muscle
20	chr8:99059200-99062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:99059200-99062400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:99059200-99062600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:99059200-99062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:99059200-99063000	Weak transcription	GM12878-XiMat	blood
25	chr8:99059200-99063200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:99059200-99063200	Weak transcription	Fetal Kidney	kidney
27	chr8:99059200-99063400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:99059200-99063400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:99059200-99064000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:99059200-99064200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:99059200-99065000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:99059200-99066200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:99059200-99070800	Weak transcription	A549	lung
34	chr8:99059200-99071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:99059400-99061400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:99059400-99061800	Weak transcription	Left Ventricle	heart
37	chr8:99059400-99061800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:99059400-99062000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:99059400-99062000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:99059400-99062200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:99059400-99062800	Weak transcription	Pancreas	Pancrea
42	chr8:99059400-99063200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:99059400-99063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:99059400-99063600	Weak transcription	Fetal Intestine Large	intestine
45	chr8:99059400-99063600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:99059400-99064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:99059400-99076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:99059600-99064400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:99060000-99060800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:99060000-99064200	Weak transcription	Fetal Intestine Small	intestine

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