Variant report

Variant	rs874617
Chromosome Location	chr8:131027338-131027339
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
2	chr20:47442643..47444706-chr8:131026917..131028434,2	MCF-7	breast:
3	chr8:130951997..130952639-chr8:131027123..131027922,3	MCF-7	breast:
4	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:
5	chr8:130908607..130911071-chr8:131026510..131028615,2	MCF-7	breast:
6	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
7	chr8:130982299..130983095-chr8:131026665..131027754,4	MCF-7	breast:
8	chr8:131018416..131020834-chr8:131027208..131028989,2	MCF-7	breast:
9	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
10	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:
11	chr8:131025540..131027750-chr8:131037896..131040382,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000264653	Chromatin interaction
ENSG00000253720	Chromatin interaction
ENSG00000124126	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10505546	0.84[ASN][1000 genomes]
rs10755933	0.84[ASN][1000 genomes]
rs10956511	0.81[JPT][hapmap]
rs1118887	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs11774690	0.81[JPT][hapmap]
rs11780495	0.83[ASN][1000 genomes]
rs12677881	0.84[ASN][1000 genomes]
rs13257060	0.84[ASN][1000 genomes]
rs13280733	0.82[ASN][1000 genomes]
rs1469288	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs16904190	0.92[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16904191	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1902014	0.82[ASN][1000 genomes]
rs1902016	0.84[ASN][1000 genomes]
rs2005030	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085065	0.99[ASN][1000 genomes]
rs2085066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2114196	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2395974	0.98[ASN][1000 genomes]
rs2395975	0.97[ASN][1000 genomes]
rs2395988	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs34443587	0.84[ASN][1000 genomes]
rs34596868	0.82[ASN][1000 genomes]
rs3935174	0.81[JPT][hapmap]
rs4733566	0.83[ASN][1000 genomes]
rs4733768	0.81[JPT][hapmap]
rs4733775	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs62524598	0.94[ASN][1000 genomes]
rs6470790	0.84[ASN][1000 genomes]
rs6470791	0.84[ASN][1000 genomes]
rs6470805	0.80[JPT][hapmap]
rs7005307	0.84[ASN][1000 genomes]
rs7012705	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs73405532	0.81[ASN][1000 genomes]
rs7463674	0.84[ASN][1000 genomes]
rs7464578	0.81[ASN][1000 genomes]
rs747498	0.94[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs747499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs747500	0.99[ASN][1000 genomes]
rs750677	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7820954	0.84[ASN][1000 genomes]
rs7845312	0.83[ASN][1000 genomes]
rs876575	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs881421	0.99[ASN][1000 genomes]
rs897051	0.99[ASN][1000 genomes]
rs9720602	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	5 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131011000-131027600	Weak transcription	Stomach Mucosa	stomach
2	chr8:131012600-131027800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:131016000-131027400	Weak transcription	Gastric	stomach
4	chr8:131018600-131027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:131022200-131028000	Weak transcription	Ovary	ovary
6	chr8:131022400-131027400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:131023000-131027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:131023200-131027400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131024200-131027400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:131024200-131027400	Weak transcription	NHLF	lung
11	chr8:131024400-131027400	Enhancers	Fetal Thymus	thymus
12	chr8:131024600-131027600	Enhancers	Left Ventricle	heart
13	chr8:131025400-131027800	Enhancers	Fetal Heart	heart
14	chr8:131025600-131027600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:131026000-131027400	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:131026000-131027400	Enhancers	Placenta	Placenta
17	chr8:131026000-131027600	Enhancers	HepG2	liver
18	chr8:131026200-131027400	Weak transcription	Thymus	Thymus
19	chr8:131026200-131027600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:131026200-131027600	Enhancers	Colonic Mucosa	Colon
21	chr8:131026200-131028000	Enhancers	Fetal Brain Male	brain
22	chr8:131026400-131027400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:131026400-131027400	Enhancers	Lung	lung
24	chr8:131026400-131027600	Weak transcription	Right Atrium	heart
25	chr8:131026400-131028000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:131026600-131027400	Enhancers	HSMM	muscle
27	chr8:131026600-131027600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:131026600-131028000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr8:131026600-131028000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:131026600-131028200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:131026600-131028200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:131026600-131028200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr8:131026800-131027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:131026800-131027400	Enhancers	Brain Germinal Matrix	brain
35	chr8:131026800-131027400	Enhancers	NH-A	brain
36	chr8:131026800-131027600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:131026800-131027600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:131026800-131027800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr8:131026800-131028000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:131026800-131028000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:131026800-131028000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr8:131026800-131028000	Flanking Active TSS	A549	lung
43	chr8:131026800-131028200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr8:131026800-131028200	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:131026800-131028400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:131026800-131029600	Active TSS	Brain Anterior Caudate	brain
47	chr8:131027000-131027400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:131027000-131027400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:131027000-131027400	Enhancers	Small Intestine	intestine
50	chr8:131027000-131027400	Enhancers	Dnd41	blood

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