Variant report

Variant	rs12344605
Chromosome Location	chr9:100381598-100381599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100380827..100383668-chr9:100385010..100387087,2	K562	blood:
2	chr9:100371893..100374516-chr9:100380257..100382614,2	MCF-7	breast:
3	chr9:100379940..100382784-chr9:100394672..100397527,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136925	Chromatin interaction
ENSG00000136937	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10116536	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10119687	1.00[CEU][hapmap]
rs10120102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10123969	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983405	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346336	1.00[ASN][1000 genomes]
rs12349178	1.00[ASN][1000 genomes]
rs16923269	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16923677	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs16923719	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335265	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480232	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4617277	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751548	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7849509	1.00[ASN][1000 genomes]
rs952765	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100348800-100384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:100361800-100383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:100361800-100389000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:100361800-100394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:100363000-100394600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:100365200-100382200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:100365800-100389400	Weak transcription	Stomach Mucosa	stomach
8	chr9:100367400-100386200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:100367400-100387000	Weak transcription	HMEC	breast
10	chr9:100367600-100384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:100367600-100390400	Weak transcription	Small Intestine	intestine
12	chr9:100367800-100383800	Weak transcription	A549	lung
13	chr9:100367800-100384000	Weak transcription	Aorta	Aorta
14	chr9:100367800-100384400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:100368200-100386200	Weak transcription	Esophagus	oesophagus
16	chr9:100368200-100394000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:100368200-100394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:100368400-100384000	Weak transcription	Pancreas	Pancrea
19	chr9:100368400-100387800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:100368400-100394000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:100369000-100386400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr9:100369000-100388200	Strong transcription	Fetal Muscle Leg	muscle
23	chr9:100369600-100382600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:100371000-100382400	Weak transcription	Fetal Intestine Small	intestine
25	chr9:100371200-100382800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:100372200-100388200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:100372800-100383200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:100372800-100387600	Weak transcription	Psoas Muscle	Psoas
29	chr9:100372800-100394000	Weak transcription	Colonic Mucosa	Colon
30	chr9:100373000-100383800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:100373000-100389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:100373200-100386600	Weak transcription	HUVEC	blood vessel
33	chr9:100373400-100389400	Weak transcription	NHDF-Ad	bronchial
34	chr9:100373800-100382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:100373800-100383800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:100374000-100383200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:100374000-100383800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:100374000-100386200	Weak transcription	Osteobl	bone
39	chr9:100374000-100394000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:100374200-100383200	Weak transcription	Ovary	ovary
41	chr9:100374200-100384400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:100374400-100382800	Weak transcription	Lung	lung
43	chr9:100374400-100386200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr9:100374600-100393800	Weak transcription	Fetal Kidney	kidney
45	chr9:100375600-100387600	Weak transcription	NH-A	brain
46	chr9:100376000-100382400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:100376000-100382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:100376000-100387400	Weak transcription	Brain Substantia Nigra	brain
49	chr9:100376400-100383600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:100376600-100382200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links