Variant report

Variant	rs2280143
Chromosome Location	chr9:98742682-98742683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98677843..98679805-chr9:98742598..98744362,2	MCF-7	breast:
2	chr9:98735548..98738527-chr9:98741543..98743511,2	K562	blood:

Variant related genes	Relation type
ENSG00000182150	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12005631	1.00[EUR][1000 genomes]
rs12551596	0.89[JPT][hapmap]
rs1413178	0.89[JPT][hapmap]
rs16910333	0.89[JPT][hapmap]
rs16910342	0.82[JPT][hapmap]
rs16910409	0.90[JPT][hapmap]
rs16910427	0.91[JPT][hapmap]
rs17303324	0.91[JPT][hapmap]
rs2297009	0.91[JPT][hapmap]
rs2423	0.91[JPT][hapmap]
rs4742763	0.91[JPT][hapmap]
rs4742769	0.84[JPT][hapmap]
rs4742801	0.89[JPT][hapmap]
rs4743351	0.91[JPT][hapmap]
rs4743383	0.91[JPT][hapmap]
rs56930274	0.91[ASN][1000 genomes]
rs9792684	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv893600	chr9:98608989-98775459	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98686400-98743800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr9:98706400-98777400	Weak transcription	Psoas Muscle	Psoas
3	chr9:98711000-98743400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:98714000-98782600	Weak transcription	HUVEC	blood vessel
5	chr9:98719000-98743800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr9:98719000-98751400	Weak transcription	Stomach Mucosa	stomach
7	chr9:98719200-98744000	Weak transcription	Brain Substantia Nigra	brain
8	chr9:98719200-98744400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:98719200-98749600	Weak transcription	Fetal Intestine Small	intestine
10	chr9:98719200-98749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:98719200-98752800	Weak transcription	Pancreas	Pancrea
12	chr9:98719200-98764200	Weak transcription	Spleen	Spleen
13	chr9:98719200-98767800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:98719400-98742800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:98719400-98744000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:98719400-98744000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:98719400-98767200	Weak transcription	Right Ventricle	heart
18	chr9:98719400-98771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:98719600-98743800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:98719600-98766800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:98722400-98747800	Weak transcription	Fetal Heart	heart
22	chr9:98723800-98749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:98725400-98743600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:98726400-98767800	Weak transcription	Gastric	stomach
25	chr9:98730000-98744400	Weak transcription	Fetal Stomach	stomach
26	chr9:98730600-98751200	Weak transcription	Small Intestine	intestine
27	chr9:98732200-98747400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:98732200-98751200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:98733000-98749600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:98734600-98744000	Weak transcription	Brain Angular Gyrus	brain
31	chr9:98734600-98749800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:98734600-98764400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:98734600-98767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:98734600-98782400	Weak transcription	NHEK	skin
35	chr9:98735200-98751600	Weak transcription	NHDF-Ad	bronchial
36	chr9:98735400-98743200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:98735400-98747200	Weak transcription	A549	lung
38	chr9:98735400-98778400	Weak transcription	Hela-S3	cervix
39	chr9:98735600-98743800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:98735800-98743800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:98735800-98744000	Weak transcription	Thymus	Thymus
42	chr9:98735800-98744200	Weak transcription	Fetal Brain Female	brain
43	chr9:98735800-98747200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:98735800-98747200	Weak transcription	HMEC	breast
45	chr9:98735800-98748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:98735800-98764200	Weak transcription	Placenta	Placenta
47	chr9:98735800-98766600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:98735800-98770600	Weak transcription	K562	blood
49	chr9:98735800-98771200	Weak transcription	HepG2	liver
50	chr9:98736000-98744400	Weak transcription	Duodenum Mucosa	Duodenum

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