Variant report

Variant	rs10184704
Chromosome Location	chr2:127452764-127452765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1530148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018638	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4538146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6732528	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv965826	chr2:127445780-127453618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875010	chr2:127447829-127452764	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3528056	chr2:127448510-127455016	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3528057	chr2:127448510-127455016	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv583014	chr2:127450911-127455669	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
5	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
6	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:127442000-127456800	Weak transcription	Osteobl	bone
9	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
10	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
20	chr2:127447400-127455800	Strong transcription	Ovary	ovary
21	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
24	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:127448200-127456400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:127448400-127456200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:127448600-127455200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:127449000-127455800	Strong transcription	K562	blood
33	chr2:127449600-127456000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:127449800-127456600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:127450000-127453600	Weak transcription	Psoas Muscle	Psoas
36	chr2:127450000-127454200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:127450400-127453400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:127450400-127456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:127450400-127456200	Strong transcription	Aorta	Aorta
40	chr2:127450400-127456400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:127450600-127454400	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:127450600-127456600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:127450800-127453400	Strong transcription	Spleen	Spleen
44	chr2:127450800-127455600	Strong transcription	Primary B cells from cord blood	blood
45	chr2:127450800-127456000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:127450800-127456600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine
48	chr2:127451000-127453400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:127451000-127454400	Strong transcription	Pancreas	Pancrea
50	chr2:127451000-127455200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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