Variant report

Variant	rs7648752
Chromosome Location	chr3:110796767-110796768
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11929280	1.00[CEU][hapmap]
rs1351049	0.88[ASN][1000 genomes]
rs1381836	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1382077	0.88[ASN][1000 genomes]
rs1477843	0.82[CEU][hapmap]
rs1477846	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1477848	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1477850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16857350	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16857689	0.88[ASN][1000 genomes]
rs2126713	0.82[CEU][hapmap]
rs2126714	1.00[ASN][1000 genomes]
rs2169643	1.00[CEU][hapmap]
rs2399373	0.82[CEU][hapmap]
rs2399376	0.88[ASN][1000 genomes]
rs4682229	0.82[CEU][hapmap]
rs4682230	0.82[CEU][hapmap]
rs4682234	0.82[CEU][hapmap]
rs57043424	0.92[ASN][1000 genomes]
rs58184851	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60585479	0.92[ASN][1000 genomes]
rs6437948	0.82[CEU][hapmap]
rs6437953	0.82[CEU][hapmap]
rs66624862	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6763050	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs72935952	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72935959	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72935966	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72935968	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72935975	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72935989	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72935999	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937905	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937910	0.88[ASN][1000 genomes]
rs72937915	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72937922	0.88[ASN][1000 genomes]
rs72937952	0.92[ASN][1000 genomes]
rs72937960	0.92[ASN][1000 genomes]
rs72937968	0.92[ASN][1000 genomes]
rs72937972	0.92[ASN][1000 genomes]
rs7433877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612667	0.82[CEU][hapmap]
rs873132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs873133	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9288918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288919	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969940	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9821335	0.82[CEU][hapmap]
rs9828899	0.82[CEU][hapmap]
rs9853370	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9866028	0.82[CEU][hapmap]
rs9882945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110792600-110800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:110792600-110802200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:110792600-110803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:110793000-110796800	Enhancers	Liver	Liver
5	chr3:110793000-110798400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:110793000-110799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:110793000-110799200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:110793000-110799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:110793200-110796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:110793200-110798800	Weak transcription	HSMM	muscle
11	chr3:110793200-110799400	Weak transcription	Fetal Kidney	kidney
12	chr3:110793200-110799800	Weak transcription	HSMMtube	muscle
13	chr3:110793400-110797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:110793400-110799800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:110793600-110797400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:110794000-110797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:110794000-110798400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:110794200-110796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:110794200-110797000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:110794200-110798400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:110794200-110798400	Weak transcription	HUVEC	blood vessel
22	chr3:110794200-110800800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:110794200-110801600	Weak transcription	Ovary	ovary
24	chr3:110794200-110802200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:110794200-110809200	Weak transcription	Fetal Brain Male	brain
26	chr3:110794400-110797000	Weak transcription	A549	lung
27	chr3:110794400-110797800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:110794400-110799400	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:110794400-110813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:110794600-110797800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:110794800-110798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:110794800-110804600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:110794800-110805200	Enhancers	Dnd41	blood
34	chr3:110795000-110798800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:110795000-110798800	Enhancers	Fetal Intestine Large	intestine
36	chr3:110795000-110800200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:110795000-110801200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:110795200-110800200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:110795400-110797800	Enhancers	Duodenum Mucosa	Duodenum
40	chr3:110795600-110801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:110795800-110796800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:110795800-110797000	Weak transcription	Fetal Intestine Small	intestine
43	chr3:110795800-110799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:110796000-110804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:110796200-110801200	Enhancers	NHDF-Ad	bronchial
46	chr3:110796200-110806800	Weak transcription	Small Intestine	intestine
47	chr3:110796400-110796800	Weak transcription	Fetal Lung	lung
48	chr3:110796400-110797000	Active TSS	NHLF	lung
49	chr3:110796400-110799000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:110796600-110797000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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