Variant report

Variant	rs10003730
Chromosome Location	chr4:119211373-119211374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10026690	1.00[AMR][1000 genomes]
rs10030548	1.00[AMR][1000 genomes]
rs28527406	1.00[AMR][1000 genomes]
rs28625175	1.00[AMR][1000 genomes]
rs28630407	1.00[AMR][1000 genomes]
rs28656407	1.00[AMR][1000 genomes]
rs28697099	1.00[AMR][1000 genomes]
rs28713634	1.00[AMR][1000 genomes]
rs28753764	1.00[AMR][1000 genomes]
rs28847022	1.00[AMR][1000 genomes]
rs9993556	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119200800-119212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119201400-119216200	Weak transcription	Lung	lung
3	chr4:119201400-119223800	Weak transcription	Gastric	stomach
4	chr4:119202200-119211600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:119202200-119225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:119202400-119220800	Weak transcription	Fetal Brain Female	brain
7	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
8	chr4:119203400-119212400	Weak transcription	Left Ventricle	heart
9	chr4:119203400-119228200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:119208000-119213000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:119208200-119213000	Enhancers	Osteobl	bone
12	chr4:119208400-119212400	Enhancers	NHLF	lung
13	chr4:119208400-119212800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:119208600-119219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:119208800-119213000	Enhancers	NHDF-Ad	bronchial
16	chr4:119209400-119212800	Enhancers	Fetal Lung	lung
17	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:119209800-119213000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:119210000-119212200	Weak transcription	NHEK	skin
20	chr4:119210000-119213600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:119210200-119219800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:119210200-119258600	Weak transcription	HMEC	breast
24	chr4:119210400-119212400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:119210800-119211400	Enhancers	NH-A	brain
26	chr4:119210800-119211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:119210800-119216400	Weak transcription	Fetal Stomach	stomach
28	chr4:119211000-119211800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:119211200-119211600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:119211200-119212200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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