Variant report

Variant	rs11939191
Chromosome Location	chr4:148438715-148438716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148438170..148441036-chr4:148443723..148446840,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10001478	1.00[AMR][1000 genomes]
rs10003944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010949	1.00[AMR][1000 genomes]
rs10011035	1.00[AMR][1000 genomes]
rs10012917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016209	1.00[AMR][1000 genomes]
rs10017079	1.00[EUR][1000 genomes]
rs10019230	1.00[AMR][1000 genomes]
rs10019644	1.00[EUR][1000 genomes]
rs10020557	1.00[EUR][1000 genomes]
rs10024734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028666	1.00[AMR][1000 genomes]
rs10031628	1.00[EUR][1000 genomes]
rs10032638	1.00[EUR][1000 genomes]
rs10305849	1.00[AMR][1000 genomes]
rs10305881	1.00[AMR][1000 genomes]
rs10305883	1.00[AMR][1000 genomes]
rs10305926	1.00[EUR][1000 genomes]
rs1105266	1.00[EUR][1000 genomes]
rs11933787	1.00[EUR][1000 genomes]
rs11935436	1.00[EUR][1000 genomes]
rs11940536	1.00[EUR][1000 genomes]
rs11943100	1.00[AMR][1000 genomes]
rs11943383	1.00[AMR][1000 genomes]
rs13435440	1.00[AMR][1000 genomes]
rs1400557	1.00[AMR][1000 genomes]
rs1503863	1.00[EUR][1000 genomes]
rs1517135	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16998721	1.00[AMR][1000 genomes]
rs17023736	1.00[EUR][1000 genomes]
rs2036499	1.00[EUR][1000 genomes]
rs2036502	1.00[EUR][1000 genomes]
rs2358096	1.00[EUR][1000 genomes]
rs2654947	1.00[TSI][hapmap]
rs2718451	1.00[EUR][1000 genomes]
rs28386186	1.00[AMR][1000 genomes]
rs28551143	1.00[EUR][1000 genomes]
rs28572568	1.00[AMR][1000 genomes]
rs28679567	1.00[AMR][1000 genomes]
rs28687346	1.00[AMR][1000 genomes]
rs28808633	1.00[AMR][1000 genomes]
rs28889981	1.00[AMR][1000 genomes]
rs58376196	1.00[EUR][1000 genomes]
rs6535547	1.00[TSI][hapmap]
rs6535551	1.00[EUR][1000 genomes]
rs6824884	1.00[EUR][1000 genomes]
rs6854158	1.00[EUR][1000 genomes]
rs7673515	1.00[EUR][1000 genomes]
rs7681275	1.00[EUR][1000 genomes]
rs9308219	1.00[EUR][1000 genomes]
rs9308220	1.00[EUR][1000 genomes]
rs9308221	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs931779	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs955558	1.00[AMR][1000 genomes]
rs9884319	1.00[EUR][1000 genomes]
rs9884495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993718	1.00[AMR][1000 genomes]
rs9993720	1.00[AMR][1000 genomes]
rs9997823	1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999853	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
2	chr4:148420000-148438800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:148422200-148443000	Weak transcription	Fetal Intestine Small	intestine
4	chr4:148430600-148439400	Weak transcription	Aorta	Aorta
5	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:148432800-148438800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:148433000-148438800	Weak transcription	Osteobl	bone
8	chr4:148433000-148439200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:148434200-148462600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:148434400-148443400	Weak transcription	Right Atrium	heart
11	chr4:148434400-148447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:148434600-148443400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:148434800-148439200	Weak transcription	NH-A	brain
14	chr4:148435400-148438800	Weak transcription	NHDF-Ad	bronchial
15	chr4:148436400-148443800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:148436600-148445400	Weak transcription	HSMMtube	muscle
17	chr4:148436800-148447400	Weak transcription	Right Ventricle	heart
18	chr4:148437600-148447000	Weak transcription	Ovary	ovary
19	chr4:148437600-148447400	Weak transcription	Left Ventricle	heart
20	chr4:148438400-148438800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:148438600-148438800	Enhancers	Fetal Heart	heart
22	chr4:148438600-148439600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:148438600-148440200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:148438600-148440400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:148438600-148443000	Weak transcription	Fetal Lung	lung

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