Variant report

Variant	rs7816817
Chromosome Location	chr8:108443404-108443405
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108402015..108404323-chr8:108441443..108443995,2	K562	blood:
2	chr8:108439594..108441286-chr8:108441699..108444192,2	K562	blood:
3	chr8:108438018..108441094-chr8:108441728..108444192,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10086241	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086336	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086467	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10091818	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955456	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541987	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546710	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13439018	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13439823	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1433172	0.85[ASN][1000 genomes]
rs1433185	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433187	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433188	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17301273	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1836031	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28577060	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847160	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4100190	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4114169	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4571710	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734967	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734973	0.85[ASN][1000 genomes]
rs56163052	0.85[ASN][1000 genomes]
rs6469113	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108421800-108448200	Weak transcription	Psoas Muscle	Psoas
2	chr8:108434000-108449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:108438800-108447600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:108438800-108448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:108439800-108444000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:108439800-108449800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:108440600-108452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:108441000-108444000	Enhancers	Colon Smooth Muscle	Colon
9	chr8:108441400-108449800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:108441600-108444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:108441800-108443800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:108441800-108443800	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:108441800-108444000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:108441800-108455400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:108442000-108445400	Weak transcription	HMEC	breast
16	chr8:108442000-108447600	Weak transcription	Ovary	ovary
17	chr8:108442000-108448400	Weak transcription	Aorta	Aorta
18	chr8:108442000-108449800	Weak transcription	Small Intestine	intestine
19	chr8:108442200-108443800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:108442200-108444000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:108442400-108443600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:108442400-108443800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:108442400-108444000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:108442400-108448400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:108442600-108444000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:108442800-108445000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:108442800-108447800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:108442800-108448200	Weak transcription	NHDF-Ad	bronchial
29	chr8:108442800-108448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:108442800-108450000	Weak transcription	Osteobl	bone
31	chr8:108443000-108444000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:108443000-108444000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:108443000-108451800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:108443200-108447600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:108443200-108449400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:108443400-108444000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:108443400-108446400	Weak transcription	Fetal Kidney	kidney
38	chr8:108443400-108448400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:108443400-108448800	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links