Variant report

Variant	rs6730113
Chromosome Location	chr2:99137319-99137320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11885661	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11890366	1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17020532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17030716	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17033137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034163	1.00[EUR][1000 genomes]
rs17034202	1.00[EUR][1000 genomes]
rs17034261	1.00[EUR][1000 genomes]
rs1847551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271041	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2871214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35028575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710669	1.00[EUR][1000 genomes]
rs6716095	1.00[EUR][1000 genomes]
rs6727604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730953	1.00[EUR][1000 genomes]
rs6739018	1.00[EUR][1000 genomes]
rs6749575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749743	1.00[EUR][1000 genomes]
rs6754711	1.00[EUR][1000 genomes]
rs6756034	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756693	1.00[EUR][1000 genomes]
rs7561785	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[EUR][1000 genomes]
rs7605114	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
5	nsv2840	chr2:99116934-99162190	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99114000-99137600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:99114400-99154000	Weak transcription	HepG2	liver
3	chr2:99116600-99137800	Weak transcription	Fetal Brain Female	brain
4	chr2:99119200-99137400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:99121600-99155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:99123200-99154400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:99124600-99137400	Weak transcription	Liver	Liver
8	chr2:99124600-99137600	Weak transcription	Pancreas	Pancrea
9	chr2:99125200-99144000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:99125400-99137600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:99125400-99143600	Weak transcription	Brain Germinal Matrix	brain
12	chr2:99125600-99140600	Weak transcription	Fetal Heart	heart
13	chr2:99126200-99162000	Weak transcription	Small Intestine	intestine
14	chr2:99127000-99176800	Weak transcription	Right Atrium	heart
15	chr2:99131400-99154800	Weak transcription	Fetal Kidney	kidney
16	chr2:99131600-99150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:99131800-99137600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:99131800-99137800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:99131800-99138000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:99131800-99141600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:99131800-99143400	Weak transcription	HSMMtube	muscle
22	chr2:99131800-99149800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:99131800-99152200	Weak transcription	HSMM	muscle
24	chr2:99131800-99154600	Weak transcription	NH-A	brain
25	chr2:99131800-99154600	Weak transcription	Osteobl	bone
26	chr2:99132200-99143400	Weak transcription	A549	lung
27	chr2:99132400-99137800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:99132400-99152400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:99132400-99152400	Weak transcription	Placenta	Placenta
30	chr2:99132400-99153800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:99132400-99154000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:99132600-99144800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:99132600-99154200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:99133000-99140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:99133000-99152200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:99133000-99176400	Weak transcription	Psoas Muscle	Psoas
37	chr2:99133200-99137600	Weak transcription	K562	blood
38	chr2:99133200-99149800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:99134200-99139000	Weak transcription	Primary B cells from cord blood	blood
40	chr2:99134200-99140600	Weak transcription	Stomach Mucosa	stomach
41	chr2:99134200-99152600	Weak transcription	NHDF-Ad	bronchial
42	chr2:99134200-99156600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:99134400-99154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:99134400-99169400	Weak transcription	NHLF	lung
45	chr2:99134800-99142200	Strong transcription	Primary T cells from cord blood	blood
46	chr2:99134800-99142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:99134800-99143400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:99135000-99138600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:99135000-99143200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:99135000-99150000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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