Variant report

Variant	rs9462253
Chromosome Location	chr6:36994268-36994269
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36993908..36995682-chr6:37024322..37026028,2	MCF-7	breast:
2	chr6:36993861..36996746-chr6:37142194..37145787,3	K562	blood:
3	chr6:36991470..36994009-chr6:36994154..36996007,2	K562	blood:
4	chr6:36990051..36995346-chr6:37136390..37139647,6	K562	blood:
5	chr6:36989418..36991271-chr6:36992892..36995334,2	K562	blood:
6	chr6:36993138..36995327-chr6:37018553..37020815,2	MCF-7	breast:
7	chr6:36993719..36995482-chr6:37168035..37170817,2	K562	blood:
8	chr6:36987000..36988996-chr6:36992167..36994325,2	MCF-7	breast:
9	chr6:36989691..36991271-chr6:36992892..36995062,3	K562	blood:
10	chr6:36993041..37002133-chr6:37135266..37141596,21	K562	blood:
11	chr6:36984774..36987733-chr6:36993476..36997065,5	K562	blood:
12	chr6:36993272..36995569-chr6:42419415..42422113,2	MCF-7	breast:
13	chr6:36993956..36998841-chr6:37016055..37021281,5	K562	blood:
14	chr6:36990308..36994435-chr6:37135955..37142463,7	MCF-7	breast:
15	chr6:36954227..36956971-chr6:36992385..36994779,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction
ENSG00000124496	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11970283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16889467	1.00[ASN][1000 genomes]
rs2183000	1.00[ASN][1000 genomes]
rs2395665	1.00[ASN][1000 genomes]
rs2395666	1.00[ASN][1000 genomes]
rs55994992	1.00[ASN][1000 genomes]
rs58083075	1.00[ASN][1000 genomes]
rs58663807	1.00[ASN][1000 genomes]
rs59214897	1.00[ASN][1000 genomes]
rs60679206	1.00[ASN][1000 genomes]
rs9462260	1.00[ASN][1000 genomes]
rs9462262	1.00[ASN][1000 genomes]
rs9462272	1.00[AMR][1000 genomes]
rs9462279	1.00[AMR][1000 genomes]
rs9470453	1.00[AMR][1000 genomes]
rs9470455	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9470466	1.00[ASN][1000 genomes]
rs9470468	1.00[ASN][1000 genomes]
rs9470471	1.00[ASN][1000 genomes]
rs9470472	1.00[ASN][1000 genomes]
rs9470473	1.00[ASN][1000 genomes]
rs9470474	1.00[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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36983400-36995000	Weak transcription	Lung	lung
2	chr6:36986800-37006600	Weak transcription	Colonic Mucosa	Colon
3	chr6:36987000-36996800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:36987000-36996800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:36987200-36995000	Strong transcription	Primary B cells from cord blood	blood
6	chr6:36987200-36997200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:36988200-36998000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr6:36988600-37006600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:36990000-36997000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:36990200-36996400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:36990200-36998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:36990200-37006600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:36990400-36997000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:36991000-37001600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:36991200-36997000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:36991200-36997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:36991400-36995000	Weak transcription	Stomach Mucosa	stomach
18	chr6:36991400-36996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:36991600-36996600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:36991600-36996800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:36991600-36997000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:36991600-36998400	Weak transcription	Adipose Nuclei	Adipose
23	chr6:36991800-36998000	Weak transcription	GM12878-XiMat	blood
24	chr6:36992200-36995400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:36992400-36996000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:36992400-36997000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:36992600-36994400	Enhancers	Dnd41	blood
28	chr6:36992600-36995400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:36992600-37005800	Weak transcription	Liver	Liver
30	chr6:36992800-37006600	Weak transcription	Gastric	stomach
31	chr6:36993000-36994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:36993000-36996800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:36993200-36996800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:36993400-36996800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:36993600-36994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:36993800-36994400	Enhancers	K562	blood
37	chr6:36993800-36995000	Enhancers	Fetal Thymus	thymus
38	chr6:36993800-37001200	Weak transcription	Pancreas	Pancrea
39	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:36994000-36995000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:36994000-36996000	Bivalent Enhancer	HepG2	liver
42	chr6:36994000-36997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:36994200-36994400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:36994200-36994600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:36994200-36994600	Weak transcription	Esophagus	oesophagus
46	chr6:36994200-36994600	Weak transcription	HMEC	breast
47	chr6:36994200-36996200	Strong transcription	Spleen	Spleen
48	chr6:36994200-36997000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:36994200-36997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links