Variant report

Variant	rs1477048
Chromosome Location	chr2:36660476-36660477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36659185..36660941-chr2:36665845..36668463,2	MCF-7	breast:
2	chr2:36587591..36589572-chr2:36660142..36662034,2	MCF-7	breast:
3	chr2:36581891..36584945-chr2:36659676..36663580,4	MCF-7	breast:
4	chr2:36605517..36607622-chr2:36658577..36660490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction
ENSG00000260025	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11673762	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11682688	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1523788	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17018790	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs17018798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2110928	0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2192920	0.81[ASN][1000 genomes]
rs2276673	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34439217	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770884	0.81[CEU][hapmap];0.97[EUR][1000 genomes]
rs3770885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770887	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3770888	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs3770891	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3770903	0.87[ASN][1000 genomes]
rs3821157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56036545	0.99[EUR][1000 genomes]
rs57393342	0.91[ASN][1000 genomes]
rs57431226	1.00[EUR][1000 genomes]
rs58185473	1.00[EUR][1000 genomes]
rs62136162	1.00[EUR][1000 genomes]
rs6729186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7571902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848498	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs848500	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs848501	0.96[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs848503	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs848507	0.96[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36644400-36665600	Weak transcription	Gastric	stomach
3	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
5	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
9	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:36654800-36660800	Enhancers	Ovary	ovary
13	chr2:36655400-36662600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:36656800-36661000	Enhancers	Fetal Stomach	stomach
15	chr2:36657000-36665600	Genic enhancers	A549	lung
16	chr2:36657600-36661200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:36657600-36661600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:36658000-36668400	Weak transcription	Esophagus	oesophagus
19	chr2:36658200-36660800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:36658200-36661000	Enhancers	Fetal Kidney	kidney
21	chr2:36658400-36665400	Enhancers	NHDF-Ad	bronchial
22	chr2:36658600-36660800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:36658600-36661400	Enhancers	Fetal Lung	lung
24	chr2:36658800-36660800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:36658800-36660800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:36658800-36660800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:36658800-36662200	Genic enhancers	HSMM	muscle
28	chr2:36659000-36660600	Weak transcription	Aorta	Aorta
29	chr2:36659000-36661600	Enhancers	HUVEC	blood vessel
30	chr2:36659200-36660800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:36659400-36660600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr2:36659400-36661400	Enhancers	HepG2	liver
33	chr2:36659600-36660600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:36659600-36660600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:36659600-36660600	Enhancers	Brain Angular Gyrus	brain
36	chr2:36659600-36660600	Enhancers	Fetal Intestine Large	intestine
37	chr2:36659600-36660800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:36659600-36660800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:36659600-36660800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:36659600-36660800	Enhancers	Placenta	Placenta
41	chr2:36659600-36661400	Enhancers	Fetal Heart	heart
42	chr2:36659600-36661800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:36659800-36660600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:36659800-36660800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:36659800-36660800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr2:36659800-36661000	Enhancers	Left Ventricle	heart
47	chr2:36659800-36661200	Enhancers	NH-A	brain
48	chr2:36659800-36661600	Enhancers	Brain Substantia Nigra	brain
49	chr2:36660000-36660600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:36660000-36660600	Enhancers	Duodenum Smooth Muscle	Duodenum

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