Variant report

Variant	rs6471497
Chromosome Location	chr8:95849033-95849034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95846378..95849279-chr8:95857987..95861242,3	K562	blood:
2	chr8:95840487..95843222-chr8:95845510..95849201,3	MCF-7	breast:
3	chr8:95838399..95841425-chr8:95848369..95851492,3	K562	blood:
4	chr8:95846883..95849279-chr8:95857987..95859590,2	K562	blood:
5	chr8:95844414..95846200-chr8:95848698..95850830,2	MCF-7	breast:
6	chr8:95845660..95850054-chr8:95850479..95855714,7	K562	blood:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10091683	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112232	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs10441538	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10956928	0.83[YRI][hapmap]
rs10956929	0.95[CEU][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes]
rs10956930	0.88[CEU][hapmap]
rs10956931	0.91[CEU][hapmap]
rs10956932	0.88[CEU][hapmap]
rs1129152	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs11784717	0.82[CEU][hapmap]
rs11988818	0.84[ASN][1000 genomes]
rs11996455	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs12541990	0.83[CEU][hapmap]
rs12545596	0.80[CEU][hapmap]
rs12548999	0.84[CEU][hapmap]
rs12550765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677346	0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13271375	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs13271644	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2123647	0.88[CEU][hapmap]
rs2278891	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs2924477	0.82[EUR][1000 genomes]
rs2945554	0.88[CEU][hapmap]
rs2956216	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs3019175	0.88[CEU][hapmap]
rs3019182	0.89[EUR][1000 genomes]
rs35106232	0.87[ASN][1000 genomes]
rs4075835	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4076061	0.84[ASN][1000 genomes]
rs4735310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735312	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735328	0.91[CEU][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735331	0.88[CEU][hapmap]
rs4735332	0.88[CEU][hapmap]
rs4735334	0.82[CEU][hapmap]
rs477653	0.92[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs5002591	0.83[ASN][1000 genomes]
rs535322	0.89[EUR][1000 genomes]
rs550418	0.88[CEU][hapmap];0.86[CHB][hapmap]
rs550564	0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs551270	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs61537129	0.88[EUR][1000 genomes]
rs6471498	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471499	0.95[CEU][hapmap];0.87[YRI][hapmap]
rs6471500	0.95[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471504	0.93[CHB][hapmap]
rs683832	0.91[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes]
rs6983000	0.80[CEU][hapmap]
rs6991067	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs6998921	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002058	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7004862	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs7005317	0.91[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013163	0.86[EUR][1000 genomes]
rs7015841	0.88[CEU][hapmap]
rs7017487	0.88[CEU][hapmap]
rs713113	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7817845	0.84[ASN][1000 genomes]
rs7820818	0.92[CEU][hapmap]
rs7839728	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643348	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6471497	INTS8	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836800-95850800	Weak transcription	HSMMtube	muscle
2	chr8:95836800-95866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:95837000-95849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:95837600-95850600	Weak transcription	Fetal Brain Male	brain
8	chr8:95837600-95869800	Weak transcription	Psoas Muscle	Psoas
9	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:95838600-95860400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:95839400-95854800	Strong transcription	Fetal Thymus	thymus
13	chr8:95839400-95857800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:95839400-95859600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:95839400-95872200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr8:95839400-95872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:95839400-95872400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:95839400-95872400	Strong transcription	Dnd41	blood
19	chr8:95839400-95872600	Strong transcription	Liver	Liver
20	chr8:95839400-95872600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:95839600-95854600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:95839600-95858000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:95839600-95863200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:95839600-95873400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:95839600-95873400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:95839800-95852400	Strong transcription	A549	lung
28	chr8:95840200-95853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:95840200-95860600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:95840400-95855400	Strong transcription	Primary B cells from cord blood	blood
31	chr8:95840600-95860600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:95840600-95873000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:95840800-95860600	Strong transcription	Adipose Nuclei	Adipose
34	chr8:95841200-95849600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:95842000-95850400	Weak transcription	Pancreas	Pancrea
36	chr8:95842800-95857200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:95843000-95850600	Weak transcription	Fetal Kidney	kidney
38	chr8:95843200-95850400	Weak transcription	Aorta	Aorta
39	chr8:95843400-95849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:95843600-95850000	Weak transcription	Brain Angular Gyrus	brain
41	chr8:95843600-95850400	Weak transcription	Gastric	stomach
42	chr8:95843600-95850600	Weak transcription	Spleen	Spleen
43	chr8:95843600-95850600	Weak transcription	NHLF	lung
44	chr8:95843800-95858600	Weak transcription	Small Intestine	intestine
45	chr8:95844000-95859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:95845200-95852600	Strong transcription	NHDF-Ad	bronchial
47	chr8:95845200-95858200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr8:95845200-95860800	Strong transcription	Fetal Intestine Large	intestine
49	chr8:95845600-95852400	Strong transcription	K562	blood
50	chr8:95845600-95860600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links