Variant report

Variant	rs10305908
Chromosome Location	chr4:148455119-148455120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10305845	0.85[LWK][hapmap]
rs10305885	1.00[LWK][hapmap]
rs10305914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932817	0.87[YRI][hapmap]
rs11940834	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942234	1.00[YRI][hapmap]
rs11942620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942855	0.85[LWK][hapmap]
rs11946376	0.82[YRI][hapmap]
rs72943746	1.00[AMR][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:23 , 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	chr4:148440400-148463400	Weak transcription	NH-A	brain
4	chr4:148440600-148466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:148444400-148463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148447400-148458800	Weak transcription	Fetal Brain Male	brain
7	chr4:148447400-148469200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:148447600-148468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:148447800-148455200	Weak transcription	Left Ventricle	heart
10	chr4:148447800-148457000	Weak transcription	Aorta	Aorta
11	chr4:148450200-148463000	Weak transcription	Fetal Stomach	stomach
12	chr4:148450400-148456800	Weak transcription	Ovary	ovary
13	chr4:148451600-148466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:148452000-148460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:148452600-148455200	Weak transcription	Hela-S3	cervix
16	chr4:148453600-148458400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:148453800-148455200	Enhancers	Fetal Kidney	kidney
18	chr4:148453800-148463400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:148454000-148457000	Enhancers	Fetal Heart	heart
20	chr4:148454200-148457400	Weak transcription	Fetal Lung	lung
21	chr4:148455000-148455200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:148455000-148455400	Enhancers	Right Atrium	heart
23	chr4:148455000-148455600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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