Variant report

Variant	rs1119887
Chromosome Location	chr4:148725106-148725107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10027921	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11099669	0.86[JPT][hapmap]
rs11729081	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs12640660	0.89[JPT][hapmap]
rs12645249	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs13134018	0.86[JPT][hapmap]
rs1604785	0.89[JPT][hapmap]
rs17023581	1.00[MEX][hapmap]
rs17023844	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023845	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023846	1.00[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2134706	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2134707	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55714518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58068435	0.87[AFR][1000 genomes]
rs58274809	0.88[AFR][1000 genomes]
rs58762227	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59535925	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60042554	0.87[AFR][1000 genomes]
rs6535561	1.00[JPT][hapmap]
rs6811580	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7673606	0.89[JPT][hapmap]
rs9332471	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs964170	0.83[CHD][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148710400-148729600	Weak transcription	HSMM	muscle
2	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
4	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:148716600-148732800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:148720400-148729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:148720600-148729200	Weak transcription	HSMMtube	muscle
8	chr4:148721400-148729200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:148721600-148729200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:148721600-148729200	Weak transcription	Adipose Nuclei	Adipose
11	chr4:148721600-148734400	Weak transcription	Fetal Stomach	stomach
12	chr4:148721600-148737200	Weak transcription	Gastric	stomach
13	chr4:148721800-148729400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:148721800-148729600	Weak transcription	Pancreas	Pancrea
15	chr4:148721800-148735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:148722000-148733000	Weak transcription	Esophagus	oesophagus
18	chr4:148722200-148729000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:148722200-148729200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:148722200-148730000	Weak transcription	Lung	lung
21	chr4:148723800-148727800	Weak transcription	Aorta	Aorta
22	chr4:148723800-148729000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:148723800-148729000	Weak transcription	GM12878-XiMat	blood
24	chr4:148723800-148729200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:148724000-148729000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:148724000-148733400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:148724200-148727800	Weak transcription	Left Ventricle	heart
28	chr4:148724200-148729200	Weak transcription	Right Ventricle	heart
29	chr4:148724200-148729400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:148724200-148729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:148724200-148730000	Weak transcription	Thymus	Thymus
32	chr4:148724400-148725600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:148724400-148727200	Weak transcription	Ovary	ovary
34	chr4:148724400-148729200	Weak transcription	Right Atrium	heart
35	chr4:148724400-148730000	Weak transcription	Psoas Muscle	Psoas
36	chr4:148724800-148729000	Weak transcription	NHDF-Ad	bronchial

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