Variant report

Variant	rs2482338
Chromosome Location	chr9:94037873-94037874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93956551..93958888-chr9:94036316..94038161,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFIL3-3	chr9:94035854-94039649	NONHSAT133133

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1082054	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12551859	0.81[CHD][hapmap]
rs12552364	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs1397574	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1972090	0.84[CEU][hapmap]
rs1995933	0.82[EUR][1000 genomes]
rs2457714	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2494386	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs298718	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs298723	0.82[EUR][1000 genomes]
rs773506	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs773509	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs773513	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs773515	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9299391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:93984000-94052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:93995800-94052400	Weak transcription	Fetal Stomach	stomach
5	chr9:94004600-94051800	Weak transcription	Liver	Liver
6	chr9:94011400-94055400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:94019000-94056600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:94019200-94040200	Weak transcription	Gastric	stomach
9	chr9:94019200-94059200	Weak transcription	Spleen	Spleen
10	chr9:94019400-94053400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:94019400-94068200	Weak transcription	Right Ventricle	heart
12	chr9:94019800-94044000	Weak transcription	Left Ventricle	heart
13	chr9:94023800-94048400	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:94024200-94054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:94024400-94048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:94024400-94054600	Weak transcription	Primary B cells from cord blood	blood
17	chr9:94024800-94044600	Weak transcription	HepG2	liver
18	chr9:94024800-94059400	Weak transcription	Pancreas	Pancrea
19	chr9:94026000-94054000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr9:94026800-94046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:94027000-94055000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr9:94028200-94053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:94029400-94080000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:94029800-94052400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:94030200-94052400	Weak transcription	Primary T cells from cord blood	blood
26	chr9:94032600-94052600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:94032600-94055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:94032800-94041800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:94032800-94053200	Weak transcription	Ovary	ovary
30	chr9:94032800-94057000	Weak transcription	Aorta	Aorta
31	chr9:94033800-94096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:94034800-94055000	Weak transcription	Fetal Brain Female	brain
33	chr9:94035200-94048200	Weak transcription	Brain Germinal Matrix	brain
34	chr9:94035200-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:94035400-94064800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:94035600-94052200	Weak transcription	Fetal Intestine Small	intestine
37	chr9:94035800-94052400	Weak transcription	Fetal Intestine Large	intestine
38	chr9:94035800-94055200	Weak transcription	Fetal Heart	heart
39	chr9:94036400-94038000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:94036400-94042000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:94037000-94052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:94037200-94038000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:94037200-94038200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr9:94037200-94042000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:94037200-94044600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:94037400-94038600	Enhancers	Psoas Muscle	Psoas
47	chr9:94037400-94047800	Weak transcription	Brain Angular Gyrus	brain
48	chr9:94037400-94047800	Weak transcription	Fetal Lung	lung
49	chr9:94037400-94054600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:94037400-94060200	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links