Variant report

Variant	rs12568449
Chromosome Location	chr1:57785326-57785327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10047071	0.85[JPT][hapmap]
rs10047073	0.85[JPT][hapmap]
rs10493219	0.85[JPT][hapmap]
rs10493225	1.00[JPT][hapmap]
rs10889034	1.00[JPT][hapmap]
rs10889044	0.85[JPT][hapmap]
rs11207010	1.00[JPT][hapmap]
rs11207011	1.00[JPT][hapmap]
rs11207027	0.82[CHB][hapmap]
rs11585751	0.85[JPT][hapmap]
rs12044912	1.00[JPT][hapmap]
rs12046102	1.00[JPT][hapmap]
rs12061812	1.00[JPT][hapmap]
rs12087888	1.00[JPT][hapmap]
rs12128305	1.00[JPT][hapmap]
rs12132685	1.00[JPT][hapmap]
rs12136107	0.85[JPT][hapmap]
rs12137169	0.85[JPT][hapmap]
rs12142821	1.00[JPT][hapmap]
rs12240237	0.85[JPT][hapmap]
rs1240442	0.85[JPT][hapmap]
rs12405761	0.85[JPT][hapmap]
rs12726704	1.00[JPT][hapmap]
rs12752978	1.00[JPT][hapmap]
rs1334239	1.00[JPT][hapmap]
rs1334240	1.00[JPT][hapmap]
rs1424463	0.82[JPT][hapmap]
rs1424467	0.82[JPT][hapmap]
rs166514	1.00[JPT][hapmap]
rs17115686	0.85[JPT][hapmap]
rs17424216	0.85[JPT][hapmap]
rs17425017	0.85[JPT][hapmap]
rs17425189	1.00[JPT][hapmap]
rs17456661	1.00[JPT][hapmap]
rs17457873	0.82[JPT][hapmap]
rs17459384	0.85[JPT][hapmap]
rs17459948	1.00[JPT][hapmap]
rs2216808	0.85[JPT][hapmap]
rs2405696	0.85[JPT][hapmap]
rs2405994	0.85[JPT][hapmap]
rs267638	1.00[JPT][hapmap]
rs267647	1.00[JPT][hapmap]
rs267650	1.00[JPT][hapmap]
rs2781325	1.00[JPT][hapmap]
rs390203	1.00[JPT][hapmap]
rs3909556	0.85[JPT][hapmap]
rs4279875	1.00[JPT][hapmap]
rs439378	1.00[JPT][hapmap]
rs4912163	1.00[JPT][hapmap]
rs4912244	0.85[JPT][hapmap]
rs6669975	1.00[JPT][hapmap]
rs736109	1.00[JPT][hapmap]
rs736110	1.00[JPT][hapmap]
rs746937	1.00[JPT][hapmap]
rs7513076	0.85[JPT][hapmap]
rs7528735	1.00[JPT][hapmap]
rs7535763	0.85[JPT][hapmap]
rs9436130	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57780400-57787000	Weak transcription	Fetal Brain Male	brain
4	chr1:57784000-57785400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:57784600-57785400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:57784600-57785400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:57784600-57785400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:57784600-57785400	Enhancers	Fetal Brain Female	brain
9	chr1:57784600-57785600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:57784600-57785600	Enhancers	Hela-S3	cervix
11	chr1:57784600-57785800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:57784600-57785800	Enhancers	Fetal Lung	lung
13	chr1:57784600-57786000	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:57784800-57785400	Enhancers	NHEK	skin
15	chr1:57784800-57785600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:57784800-57785600	Enhancers	Fetal Stomach	stomach
17	chr1:57784800-57786000	Enhancers	Fetal Intestine Large	intestine
18	chr1:57784800-57786000	Enhancers	Fetal Intestine Small	intestine
19	chr1:57785000-57785400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:57785200-57790000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:57785200-57793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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