Variant report

Variant	rs6994005
Chromosome Location	chr8:87507862-87507863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87505860..87508393-chr8:87512519..87515645,3	K562	blood:
2	chr8:87498343..87500506-chr8:87506060..87508202,2	MCF-7	breast:
3	chr8:87501630..87504632-chr8:87506781..87509503,3	K562	blood:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10088389	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10088739	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs10092164	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10093238	0.85[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10093379	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10095129	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10096168	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs10096443	0.85[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10103691	0.87[JPT][hapmap]
rs10956800	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs10956853	0.85[CEU][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11775728	0.84[JPT][hapmap]
rs11782512	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11787318	0.84[JPT][hapmap]
rs12543856	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs12543887	0.81[AMR][1000 genomes]
rs12544731	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13251647	1.00[CEU][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17608967	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs1946940	0.82[CEU][hapmap]
rs3213911	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34895735	0.81[AMR][1000 genomes]
rs3883910	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3903247	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4285463	0.84[JPT][hapmap]
rs4961190	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs4961194	0.92[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs56102132	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56122533	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56268009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56321721	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56365416	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56395805	0.80[EUR][1000 genomes]
rs57326273	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62510798	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62510806	0.83[EUR][1000 genomes]
rs62510845	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6415565	0.84[JPT][hapmap]
rs6471273	0.84[JPT][hapmap]
rs6471280	0.84[JPT][hapmap]
rs6471345	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6471349	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6471351	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6471352	0.85[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6471354	0.83[CEU][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6981299	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6988601	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6996052	1.00[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7006017	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs7006629	0.84[JPT][hapmap]
rs7015490	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs7017719	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs7459811	0.84[JPT][hapmap]
rs7459897	0.83[JPT][hapmap]
rs7460251	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7460286	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs7460439	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7461624	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7465350	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7820697	0.92[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs7822494	0.87[EUR][1000 genomes]
rs9642913	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv968514	chr8:87495999-87514855	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6994005	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
2	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
3	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
6	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
8	chr8:87493800-87508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:87494200-87519800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:87496600-87515800	Weak transcription	NHLF	lung
11	chr8:87497000-87516000	Weak transcription	Gastric	stomach
12	chr8:87497000-87516600	Weak transcription	Right Ventricle	heart
13	chr8:87498000-87515800	Weak transcription	Fetal Kidney	kidney
14	chr8:87498200-87517200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:87498400-87517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:87498400-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:87498800-87508000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:87504400-87508000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:87505600-87508200	Strong transcription	Primary T cells from cord blood	blood
20	chr8:87505800-87510800	Strong transcription	HSMM	muscle
21	chr8:87506000-87508000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:87506000-87508400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:87506000-87509400	ZNF genes & repeats	A549	lung
24	chr8:87506000-87516000	Weak transcription	Hela-S3	cervix
25	chr8:87506200-87508400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:87506600-87508000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr8:87506600-87509000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:87506600-87520000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:87506800-87508200	ZNF genes & repeats	Fetal Thymus	thymus
30	chr8:87506800-87508200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr8:87506800-87509400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:87506800-87511000	ZNF genes & repeats	Fetal Brain Female	brain
33	chr8:87506800-87511600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:87507000-87508000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr8:87507000-87508600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr8:87507000-87508600	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr8:87507000-87509000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr8:87507000-87509400	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr8:87507000-87509600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr8:87507200-87508000	ZNF genes & repeats	Pancreas	Pancrea
41	chr8:87507200-87508200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:87507200-87508400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr8:87507200-87508600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:87507200-87508800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:87507200-87509000	Strong transcription	Osteobl	bone
46	chr8:87507200-87509200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:87507200-87509400	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr8:87507200-87509400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr8:87507200-87509400	ZNF genes & repeats	Dnd41	blood
50	chr8:87507200-87512000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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