Variant report

Variant	rs7023191
Chromosome Location	chr9:79017000-79017001
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:79008991..79011604-chr9:79014498..79020251,6	K562	blood:
2	chr9:79011049..79012684-chr9:79015428..79017212,2	MCF-7	breast:
3	chr9:79007886..79011336-chr9:79013243..79018063,7	MCF-7	breast:
4	chr9:79008574..79010619-chr9:79015878..79018108,2	MCF-7	breast:
5	chr9:79014853..79017600-chr9:79074234..79077178,2	MCF-7	breast:
6	chr9:79015879..79018411-chr9:79025794..79028344,2	MCF-7	breast:
7	chr9:79009095..79011288-chr9:79015114..79018669,3	K562	blood:
8	chr9:79016781..79018743-chr9:79034547..79036492,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187210	Chromatin interaction
ENSG00000233814	Chromatin interaction
ENSG00000135002	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10116800	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10118954	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10119732	0.85[ASN][1000 genomes]
rs10125012	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10125667	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10781358	0.90[ASN][1000 genomes]
rs10781359	0.85[ASN][1000 genomes]
rs10781360	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10869770	0.86[CHB][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10869771	0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[YRI][hapmap]
rs10869774	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11144870	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs11144875	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11144878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11144881	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11144887	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11144894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11144897	0.85[ASN][1000 genomes]
rs1129399	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11548954	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11791951	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11793613	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11794019	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12156473	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12375735	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12377856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12377878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12380522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1324212	0.86[CHB][hapmap]
rs1324213	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1951910	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2377640	0.93[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2377641	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2501925	0.88[YRI][hapmap]
rs3187236	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4571791	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55740812	0.85[ASN][1000 genomes]
rs57480680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58136435	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59424752	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61334567	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62564441	0.80[ASN][1000 genomes]
rs62564442	0.80[ASN][1000 genomes]
rs62567918	0.85[ASN][1000 genomes]
rs62567919	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62568690	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62568692	0.90[ASN][1000 genomes]
rs6560513	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6560515	0.96[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6560516	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7025942	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7026067	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7029439	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7035385	0.82[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7037345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7038009	0.92[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7038056	0.80[ASN][1000 genomes]
rs7040138	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7041690	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7047489	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7049245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7851616	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7852884	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7853410	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7859327	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7875575	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr9:79010200-79017000	Weak transcription	NH-A	brain
2	chr9:79010600-79017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:79010600-79017000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:79010600-79018000	Weak transcription	HUVEC	blood vessel
5	chr9:79010600-79018400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:79010600-79019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:79010800-79018400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:79010800-79018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr9:79010800-79018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:79010800-79018400	Weak transcription	NHDF-Ad	bronchial
11	chr9:79011000-79018400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:79011000-79018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:79011000-79018400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:79011200-79018000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr9:79011200-79018400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr9:79015200-79017200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:79015200-79019000	Enhancers	HepG2	liver
18	chr9:79015200-79019600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:79015400-79017400	Weak transcription	GM12878-XiMat	blood
20	chr9:79015400-79018200	Enhancers	A549	lung
21	chr9:79015600-79018400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:79015800-79018400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:79016000-79018400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:79016000-79018400	Weak transcription	Hela-S3	cervix
25	chr9:79016000-79018400	Weak transcription	HMEC	breast
26	chr9:79016000-79018400	Weak transcription	NHEK	skin
27	chr9:79016000-79018600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:79016000-79023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:79016400-79017200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:79016600-79017200	Enhancers	NHLF	lung
31	chr9:79016600-79017400	Enhancers	Fetal Intestine Large	intestine
32	chr9:79016800-79018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:79016800-79018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:79016800-79019600	Enhancers	Liver	Liver
35	chr9:79016800-79020000	Enhancers	Fetal Intestine Small	intestine
36	chr9:79017000-79017200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:79017000-79017200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:79017000-79017200	Enhancers	NH-A	brain
39	chr9:79017000-79018400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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