Variant report

Variant	rs34970355
Chromosome Location	chr4:148823224-148823225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10000278	0.82[EUR][1000 genomes]
rs10001688	0.82[EUR][1000 genomes]
rs10001756	0.87[EUR][1000 genomes]
rs10003507	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10004138	0.87[EUR][1000 genomes]
rs10004691	0.89[EUR][1000 genomes]
rs10004792	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10014593	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10014696	0.82[EUR][1000 genomes]
rs10015875	0.87[EUR][1000 genomes]
rs10025069	0.87[EUR][1000 genomes]
rs10026985	0.87[EUR][1000 genomes]
rs10030358	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10049932	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099671	0.91[EUR][1000 genomes]
rs11099672	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11734553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735412	0.91[EUR][1000 genomes]
rs12331562	0.82[EUR][1000 genomes]
rs12509618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513192	0.89[EUR][1000 genomes]
rs12643550	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13129325	0.82[EUR][1000 genomes]
rs13151898	0.89[EUR][1000 genomes]
rs1369958	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17024037	0.89[EUR][1000 genomes]
rs17613979	0.85[EUR][1000 genomes]
rs17614025	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17676080	0.87[EUR][1000 genomes]
rs2043643	0.89[EUR][1000 genomes]
rs2043645	0.89[EUR][1000 genomes]
rs28576385	0.87[EUR][1000 genomes]
rs28614116	0.89[EUR][1000 genomes]
rs2884400	0.91[EUR][1000 genomes]
rs35243600	0.89[EUR][1000 genomes]
rs35810358	0.83[EUR][1000 genomes]
rs35899247	0.89[EUR][1000 genomes]
rs3893175	0.89[EUR][1000 genomes]
rs3990920	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4240341	0.83[EUR][1000 genomes]
rs4491995	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4571312	0.89[EUR][1000 genomes]
rs4627844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835103	0.93[EUR][1000 genomes]
rs4835109	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835110	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835468	0.90[ASN][1000 genomes]
rs4835469	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55650760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55820558	0.89[EUR][1000 genomes]
rs62330732	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62330735	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62330737	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62332176	0.84[ASN][1000 genomes]
rs6535569	0.86[EUR][1000 genomes]
rs6811769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818371	0.89[EUR][1000 genomes]
rs6840771	0.89[EUR][1000 genomes]
rs6843392	0.87[EUR][1000 genomes]
rs6856273	0.91[EUR][1000 genomes]
rs7660508	0.91[EUR][1000 genomes]
rs7677632	0.89[EUR][1000 genomes]
rs7698670	0.87[EUR][1000 genomes]
rs893033	0.89[EUR][1000 genomes]
rs9991741	0.85[EUR][1000 genomes]
rs9994650	0.87[EUR][1000 genomes]
rs9995956	0.82[EUR][1000 genomes]
rs9997027	0.82[EUR][1000 genomes]
rs9999321	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148794800-148824600	Weak transcription	A549	lung
3	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
5	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:148797400-148879600	Weak transcription	Gastric	stomach
8	chr4:148797600-148824600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:148801800-148830200	Weak transcription	NHEK	skin
10	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
11	chr4:148805200-148824200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:148806200-148824200	Weak transcription	HSMMtube	muscle
13	chr4:148806400-148824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:148806600-148824200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:148807200-148824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:148809200-148824200	Weak transcription	Lung	lung
17	chr4:148810200-148824800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:148810400-148824200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:148810600-148829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:148813600-148824600	Weak transcription	Fetal Kidney	kidney
21	chr4:148813600-148827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:148814200-148824000	Weak transcription	Aorta	Aorta
23	chr4:148815600-148827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:148816000-148824200	Weak transcription	Adipose Nuclei	Adipose
25	chr4:148817000-148824200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:148817000-148827600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:148817200-148824200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:148820200-148823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:148820200-148823600	Enhancers	NHDF-Ad	bronchial
30	chr4:148820400-148823600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:148820400-148824200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:148820600-148824200	Weak transcription	Right Ventricle	heart
33	chr4:148820600-148833400	Weak transcription	Left Ventricle	heart
34	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
35	chr4:148820800-148848800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:148821000-148823600	Enhancers	NHLF	lung
37	chr4:148821400-148824600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:148821400-148825000	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:148821600-148824600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:148822000-148824200	Weak transcription	Ovary	ovary
41	chr4:148822400-148823600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:148822600-148823600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:148822600-148823800	Strong transcription	GM12878-XiMat	blood
44	chr4:148822600-148823800	Strong transcription	HSMM	muscle
45	chr4:148822800-148823800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:148823000-148823400	Enhancers	Small Intestine	intestine
47	chr4:148823000-148823600	Flanking Active TSS	Osteobl	bone
48	chr4:148823000-148824200	Strong transcription	Fetal Muscle Leg	muscle
49	chr4:148823200-148823400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:148823200-148823600	Enhancers	Fetal Stomach	stomach

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