Variant report

Variant	rs1148652
Chromosome Location	chr4:151801938-151801939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10013523	0.87[EUR][1000 genomes]
rs10024139	0.82[ASN][1000 genomes]
rs10031124	0.87[ASN][1000 genomes]
rs10034695	0.87[EUR][1000 genomes]
rs10520078	0.81[CHD][hapmap];0.80[JPT][hapmap]
rs10857249	0.87[EUR][1000 genomes]
rs10857251	0.89[EUR][1000 genomes]
rs11099775	0.89[EUR][1000 genomes]
rs11099780	0.83[ASN][1000 genomes]
rs11099781	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1148645	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1148656	1.00[CEU][hapmap]
rs1201198	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1201214	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505967	0.80[JPT][hapmap]
rs12512856	1.00[CEU][hapmap]
rs12641297	0.84[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13121304	0.89[EUR][1000 genomes]
rs13126862	0.91[ASN][1000 genomes]
rs13141515	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs13145181	0.89[EUR][1000 genomes]
rs1365380	0.97[ASN][1000 genomes]
rs1549512	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1947315	0.87[EUR][1000 genomes]
rs2098927	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2198190	0.89[EUR][1000 genomes]
rs2407548	0.91[ASN][1000 genomes]
rs2407549	0.97[ASN][1000 genomes]
rs4318628	0.81[CHD][hapmap];0.80[JPT][hapmap]
rs4336207	0.80[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4696636	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696637	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4696640	0.86[ASN][1000 genomes]
rs6535754	0.86[EUR][1000 genomes]
rs6825077	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6836854	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6838530	0.89[EUR][1000 genomes]
rs6841524	0.89[EUR][1000 genomes]
rs7666190	0.87[EUR][1000 genomes]
rs7672144	0.89[EUR][1000 genomes]
rs7690485	0.89[EUR][1000 genomes]
rs7693278	0.98[ASN][1000 genomes]
rs7698070	0.82[AMR][1000 genomes]
rs9884181	0.80[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs9884963	0.87[EUR][1000 genomes]
rs9996572	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
24	nsv595688	chr4:151776717-151804857	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv595689	chr4:151788955-152015704	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151749800-151806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:151750200-151824200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:151763800-151823800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:151767600-151806600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:151772600-151806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:151773600-151813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:151773600-151813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:151773800-151813800	Weak transcription	Fetal Kidney	kidney
9	chr4:151773800-151824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:151774000-151805200	Weak transcription	Dnd41	blood
11	chr4:151774000-151805800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:151774000-151820200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:151774000-151820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:151774000-151838400	Weak transcription	HepG2	liver
15	chr4:151774200-151813600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:151774600-151811400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:151784400-151810600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:151789800-151804200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:151792600-151802400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:151792800-151819800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:151793400-151805200	Weak transcription	Osteobl	bone
22	chr4:151793600-151824200	Weak transcription	Esophagus	oesophagus
23	chr4:151795200-151813400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:151795600-151805200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:151796000-151804200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:151796000-151806200	Weak transcription	HMEC	breast
27	chr4:151796000-151808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:151796000-151813400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:151796000-151820200	Weak transcription	Ovary	ovary
30	chr4:151796000-151820400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:151796000-151845000	Weak transcription	Fetal Heart	heart
32	chr4:151796000-151846000	Weak transcription	Aorta	Aorta
33	chr4:151796000-151847200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:151796200-151803000	Weak transcription	Spleen	Spleen
35	chr4:151796200-151805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:151796200-151807800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:151796200-151826200	Weak transcription	Right Ventricle	heart
38	chr4:151796200-151849600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
40	chr4:151796400-151806400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:151796400-151813400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:151796400-151820200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:151796400-151834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:151796400-151855000	Weak transcription	Gastric	stomach
45	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
46	chr4:151796600-151833400	Weak transcription	Left Ventricle	heart
47	chr4:151796800-151813600	Weak transcription	Fetal Thymus	thymus
48	chr4:151796800-151819800	Weak transcription	K562	blood
49	chr4:151796800-151823800	Weak transcription	Thymus	Thymus
50	chr4:151796800-151824200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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