Variant report

Variant	rs1369958
Chromosome Location	chr4:148824731-148824732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10000278	0.88[EUR][1000 genomes]
rs10001688	0.88[EUR][1000 genomes]
rs10001756	0.90[EUR][1000 genomes]
rs10003507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10004138	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes]
rs10004691	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10004792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10014593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10014696	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10015875	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10018820	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs10018903	0.82[CEU][hapmap]
rs10025069	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10026985	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10030358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10049932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11099671	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11099672	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11734553	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11735412	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12331562	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12509618	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12513192	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12641291	0.82[CEU][hapmap]
rs12643550	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12650219	0.82[CEU][hapmap]
rs13129325	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13151898	0.92[EUR][1000 genomes]
rs17024037	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs17613979	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17614025	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs17676080	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2043643	0.92[EUR][1000 genomes]
rs2043644	0.82[CEU][hapmap]
rs2043645	0.92[EUR][1000 genomes]
rs28576385	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28614116	0.92[EUR][1000 genomes]
rs2884400	0.90[EUR][1000 genomes]
rs34970355	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35243600	0.92[EUR][1000 genomes]
rs35810358	0.86[EUR][1000 genomes]
rs35899247	0.92[EUR][1000 genomes]
rs3893175	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3990920	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4240338	0.82[CEU][hapmap]
rs4240339	0.82[CEU][hapmap]
rs4240341	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs4491995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4571312	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4627844	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4835103	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs4835109	0.82[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835110	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835468	0.87[ASN][1000 genomes]
rs4835469	0.82[CEU][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55650760	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55820558	0.92[EUR][1000 genomes]
rs62330732	0.87[EUR][1000 genomes]
rs62330735	0.87[EUR][1000 genomes]
rs62330737	0.91[EUR][1000 genomes]
rs62332176	0.81[ASN][1000 genomes]
rs6811769	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6818371	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs6832527	0.84[EUR][1000 genomes]
rs6840771	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs6843392	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6856273	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7656471	0.85[EUR][1000 genomes]
rs7660508	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7666127	1.00[CEU][hapmap]
rs7677632	0.92[EUR][1000 genomes]
rs7698670	0.90[EUR][1000 genomes]
rs893022	0.82[CEU][hapmap]
rs893033	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9991741	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[EUR][1000 genomes]
rs9994650	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9995896	0.82[CEU][hapmap]
rs9995956	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9996108	0.82[CEU][hapmap]
rs9997027	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9999321	0.88[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:148797400-148879600	Weak transcription	Gastric	stomach
7	chr4:148801800-148830200	Weak transcription	NHEK	skin
8	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
9	chr4:148810200-148824800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:148810600-148829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:148813600-148827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:148815600-148827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:148817000-148827600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:148820600-148833400	Weak transcription	Left Ventricle	heart
15	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
16	chr4:148820800-148848800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:148821400-148825000	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:148823400-148836600	Weak transcription	Placenta	Placenta
19	chr4:148823600-148831600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:148823600-148833400	Weak transcription	Fetal Stomach	stomach
21	chr4:148823600-148833800	Weak transcription	NHLF	lung
22	chr4:148823600-148834600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:148824000-148825400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:148824000-148825400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:148824000-148825400	Strong transcription	HSMM	muscle
26	chr4:148824200-148824800	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr4:148824200-148825000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:148824200-148825000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:148824200-148825000	Strong transcription	HSMMtube	muscle
30	chr4:148824200-148825000	ZNF genes & repeats	Osteobl	bone
31	chr4:148824200-148825200	Strong transcription	NHDF-Ad	bronchial
32	chr4:148824200-148825400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr4:148824200-148825400	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr4:148824200-148825400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr4:148824200-148825400	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr4:148824200-148825400	Strong transcription	Ovary	ovary
37	chr4:148824200-148825400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:148824200-148825400	ZNF genes & repeats	GM12878-XiMat	blood
39	chr4:148824200-148825800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:148824400-148825200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr4:148824400-148825400	ZNF genes & repeats	Fetal Heart	heart
42	chr4:148824400-148828400	Weak transcription	Aorta	Aorta
43	chr4:148824400-148830200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:148824400-148831000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:148824400-148842800	Weak transcription	Lung	lung
46	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:148824600-148825000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:148824600-148825000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr4:148824600-148825200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr4:148824600-148825200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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