Variant report

Variant	rs1477848
Chromosome Location	chr3:110817982-110817983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11929280	0.84[ASW][hapmap];0.85[CEU][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap]
rs1351049	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1382077	0.92[ASN][1000 genomes]
rs1477841	1.00[CEU][hapmap]
rs1477842	1.00[CEU][hapmap]
rs1477843	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1477846	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477847	1.00[CEU][hapmap]
rs1477850	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1477851	0.86[CEU][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs16857689	0.92[ASN][1000 genomes]
rs2126713	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2126714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2169643	0.85[CEU][hapmap];0.85[MKK][hapmap]
rs2399373	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2399375	1.00[CEU][hapmap]
rs2399376	0.92[ASN][1000 genomes]
rs4682229	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4682230	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4682231	1.00[CEU][hapmap]
rs4682234	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4682238	1.00[CEU][hapmap]
rs57043424	0.96[ASN][1000 genomes]
rs58184851	0.92[ASN][1000 genomes]
rs60585479	0.96[ASN][1000 genomes]
rs6437948	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6437953	1.00[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs66624862	0.83[ASN][1000 genomes]
rs6794645	1.00[CEU][hapmap]
rs72935952	0.83[ASN][1000 genomes]
rs72935959	0.83[ASN][1000 genomes]
rs72935966	0.83[ASN][1000 genomes]
rs72935968	0.83[ASN][1000 genomes]
rs72935975	0.83[ASN][1000 genomes]
rs72935989	0.94[ASN][1000 genomes]
rs72935999	0.96[ASN][1000 genomes]
rs72937905	0.96[ASN][1000 genomes]
rs72937910	0.92[ASN][1000 genomes]
rs72937915	0.92[ASN][1000 genomes]
rs72937922	0.92[ASN][1000 genomes]
rs72937952	0.96[ASN][1000 genomes]
rs72937960	0.96[ASN][1000 genomes]
rs72937968	0.96[ASN][1000 genomes]
rs72937972	0.96[ASN][1000 genomes]
rs7430600	1.00[CEU][hapmap]
rs7433877	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7610760	1.00[CEU][hapmap]
rs7612667	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7623880	1.00[CEU][hapmap]
rs7648752	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7653595	1.00[CEU][hapmap]
rs873132	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs873133	0.87[ASN][1000 genomes]
rs9288918	0.84[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9288919	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9821335	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9828899	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9853370	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9866028	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9876350	1.00[CEU][hapmap]
rs9882945	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110799800-110820600	Weak transcription	A549	lung
2	chr3:110802000-110822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:110805000-110833600	Weak transcription	NHDF-Ad	bronchial
4	chr3:110807200-110822600	Weak transcription	Fetal Lung	lung
5	chr3:110813800-110822600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:110816000-110820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:110816000-110827200	Weak transcription	Ovary	ovary
8	chr3:110816000-110837600	Weak transcription	Fetal Stomach	stomach
9	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
10	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:110816600-110818800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:110816800-110819200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:110817000-110818200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:110817000-110818800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:110817200-110818200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:110817400-110818000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:110817400-110818000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:110817400-110818000	Weak transcription	Gastric	stomach
19	chr3:110817400-110819800	Weak transcription	Small Intestine	intestine
20	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
21	chr3:110817600-110818200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr3:110817600-110819000	Weak transcription	Dnd41	blood
23	chr3:110817600-110837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:110817800-110818000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:110817800-110818600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:110817800-110819800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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