Variant report

Variant	rs4435730
Chromosome Location	chr4:151519232-151519233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10003085	0.86[JPT][hapmap]
rs10008675	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010950	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10011917	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10025414	0.81[GIH][hapmap]
rs10027710	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs10520078	0.89[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.94[YRI][hapmap]
rs11099769	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099770	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099772	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503291	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505967	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap]
rs12508892	0.81[GIH][hapmap]
rs12510904	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13108157	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145482	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs13147825	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1470763	0.88[CEU][hapmap]
rs1966052	0.86[GIH][hapmap]
rs4309819	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4318628	1.00[CEU][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap]
rs4336204	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4336207	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs4355367	0.81[GIH][hapmap]
rs4533751	0.81[GIH][hapmap]
rs4577554	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585281	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4642231	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826066	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834928	0.86[GIH][hapmap]
rs6835367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6847725	0.81[GIH][hapmap]
rs6858706	0.92[JPT][hapmap]
rs7657997	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7667511	0.86[GIH][hapmap]
rs7689850	0.86[GIH][hapmap]
rs9884181	0.82[CHD][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4547	chr4:151486280-151531479	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:151500800-151520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:151501200-151559800	Weak transcription	Ovary	ovary
6	chr4:151504600-151520200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:151505000-151519600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:151505000-151522000	Weak transcription	NHEK	skin
9	chr4:151505200-151520200	Weak transcription	Aorta	Aorta
10	chr4:151505200-151521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:151505200-151521400	Weak transcription	Esophagus	oesophagus
12	chr4:151505200-151522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:151505200-151522000	Weak transcription	Spleen	Spleen
14	chr4:151505400-151520000	Weak transcription	Left Ventricle	heart
15	chr4:151505400-151520400	Weak transcription	Dnd41	blood
16	chr4:151505400-151521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:151505400-151521800	Weak transcription	Thymus	Thymus
18	chr4:151505400-151522000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:151505400-151523600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:151505400-151524200	Weak transcription	Pancreas	Pancrea
21	chr4:151505400-151542200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:151505600-151519800	Weak transcription	Adipose Nuclei	Adipose
23	chr4:151506000-151521400	Weak transcription	Fetal Stomach	stomach
24	chr4:151506000-151522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:151507800-151521800	Weak transcription	Fetal Lung	lung
26	chr4:151509800-151540200	Weak transcription	GM12878-XiMat	blood
27	chr4:151510800-151522000	Weak transcription	Fetal Thymus	thymus
28	chr4:151511000-151519600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:151511000-151522000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:151511000-151522000	Weak transcription	Liver	Liver
31	chr4:151511000-151522000	Weak transcription	HMEC	breast
32	chr4:151511000-151542800	Weak transcription	K562	blood
33	chr4:151511200-151522600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:151511400-151519800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:151511400-151519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:151512200-151520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:151512400-151556000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr4:151512600-151519600	Weak transcription	Primary B cells from cord blood	blood
39	chr4:151512800-151519600	Weak transcription	Fetal Intestine Large	intestine
40	chr4:151512800-151550800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:151513000-151521800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:151513200-151519800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:151513200-151521200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:151513200-151526400	Weak transcription	HepG2	liver
45	chr4:151513200-151530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:151513600-151520200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:151513600-151520400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:151513800-151521600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:151513800-151521800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:151514200-151520200	Weak transcription	Rectal Smooth Muscle	rectum

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