Variant report

Variant	rs7681275
Chromosome Location	chr4:148449734-148449735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10003944	1.00[EUR][1000 genomes]
rs10012917	1.00[EUR][1000 genomes]
rs10017079	1.00[EUR][1000 genomes]
rs10019644	1.00[EUR][1000 genomes]
rs10020557	1.00[EUR][1000 genomes]
rs10024734	1.00[EUR][1000 genomes]
rs10031628	1.00[EUR][1000 genomes]
rs10032638	1.00[EUR][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]
rs11939191	1.00[EUR][1000 genomes]
rs11940536	1.00[EUR][1000 genomes]
rs1503863	1.00[EUR][1000 genomes]
rs1517135	1.00[EUR][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]
rs2718451	1.00[EUR][1000 genomes]
rs28551143	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58376196	1.00[EUR][1000 genomes]
rs6535551	1.00[EUR][1000 genomes]
rs6824884	1.00[EUR][1000 genomes]
rs6854158	1.00[EUR][1000 genomes]
rs7673515	1.00[EUR][1000 genomes]
rs9308219	1.00[EUR][1000 genomes]
rs9308220	1.00[EUR][1000 genomes]
rs9308221	1.00[EUR][1000 genomes]
rs931779	1.00[EUR][1000 genomes]
rs9884319	1.00[EUR][1000 genomes]
rs9884495	1.00[EUR][1000 genomes]
rs9997823	1.00[EUR][1000 genomes]
rs9999853	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148432200-148472600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148434200-148462600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:148440200-148451800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:148440400-148463400	Weak transcription	NH-A	brain
5	chr4:148440600-148455000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:148444200-148455000	Weak transcription	Right Atrium	heart
8	chr4:148444400-148463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:148445600-148450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:148447200-148453800	Weak transcription	Fetal Kidney	kidney
11	chr4:148447400-148458800	Weak transcription	Fetal Brain Male	brain
12	chr4:148447400-148469200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:148447600-148450000	Weak transcription	Gastric	stomach
14	chr4:148447600-148468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:148447800-148450000	Weak transcription	Ovary	ovary
16	chr4:148447800-148455200	Weak transcription	Left Ventricle	heart
17	chr4:148447800-148457000	Weak transcription	Aorta	Aorta
18	chr4:148448000-148453600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:148448000-148453600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:148448200-148449800	Weak transcription	Fetal Heart	heart
21	chr4:148448200-148453600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:148449400-148450800	Weak transcription	Hela-S3	cervix
23	chr4:148449600-148450200	Strong transcription	Fetal Stomach	stomach
24	chr4:148449600-148450400	Strong transcription	Fetal Lung	lung

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