Variant report

Variant	rs2185366
Chromosome Location	chr8:131342722-131342723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
2	chr8:131340635..131342968-chr8:131350699..131352695,2	MCF-7	breast:
3	chr8:131340148..131342762-chr8:131349307..131352128,2	K562	blood:
4	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
5	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
6	chr8:131336690..131338851-chr8:131341065..131343497,2	K562	blood:
7	chr8:131341482..131343785-chr8:131354519..131356819,2	K562	blood:
8	chr8:131335044..131338190-chr8:131340619..131343497,3	K562	blood:
9	chr8:131340170..131343751-chr8:131358170..131360964,3	MCF-7	breast:
10	chr8:131342449..131344196-chr8:131369562..131371312,2	MCF-7	breast:

No data

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1158569	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1158570	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11774633	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11774659	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11774690	0.80[CHB][hapmap]
rs11774947	0.82[CEU][hapmap]
rs13258946	0.82[CEU][hapmap]
rs1340021	0.82[CEU][hapmap]
rs1340022	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1538728	0.81[CEU][hapmap]
rs17212137	0.80[CHB][hapmap]
rs2670885	0.81[YRI][hapmap]
rs2791350	0.80[ASN][1000 genomes]
rs2894508	0.82[CEU][hapmap]
rs3057	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3935174	0.80[CHB][hapmap]
rs4733572	0.82[CEU][hapmap]
rs4733780	0.82[CEU][hapmap]
rs6470811	0.81[ASN][1000 genomes]
rs6470815	0.83[CEU][hapmap];0.80[CHB][hapmap]
rs6470816	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6984963	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6985563	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002892	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs7008182	0.83[ASN][1000 genomes]
rs7387699	0.81[ASN][1000 genomes]
rs7460225	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817803	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839523	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9297805	0.89[YRI][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
7	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
9	chr8:131333400-131343000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:131335400-131344200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:131335600-131343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
15	chr8:131336200-131347800	Weak transcription	Liver	Liver
16	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:131336800-131344200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
19	chr8:131337200-131343400	Weak transcription	Gastric	stomach
20	chr8:131337200-131346800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:131337400-131346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:131337400-131346200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:131338000-131343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:131338400-131343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:131338600-131347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:131338800-131343600	Weak transcription	Primary T cells from cord blood	blood
31	chr8:131338800-131343800	Enhancers	K562	blood
32	chr8:131339200-131346200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:131339600-131343400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:131339600-131343600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:131339600-131343600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:131339600-131343600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:131339600-131344000	Weak transcription	A549	lung
38	chr8:131339600-131344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:131339600-131346000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:131339600-131346000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:131339600-131351000	Weak transcription	Lung	lung
42	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:131339800-131343000	Enhancers	GM12878-XiMat	blood
44	chr8:131339800-131344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:131339800-131344200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:131339800-131346000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:131339800-131346000	Weak transcription	Fetal Thymus	thymus
48	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
49	chr8:131340200-131343600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:131340400-131346000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links