Variant report

Variant	rs41279525
Chromosome Location	chr4:55161090-55161091
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62299371	1.00[AFR][1000 genomes]
rs62299372	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1004408	chr4:55124471-55179212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv537099	chr4:55124471-55179212	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1001094	chr4:55131860-55189739	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55137400-55161600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:55143600-55164600	Weak transcription	Colonic Mucosa	Colon
3	chr4:55145600-55163200	Weak transcription	Gastric	stomach
4	chr4:55148200-55166000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:55148200-55167200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:55148400-55163800	Strong transcription	Ovary	ovary
7	chr4:55148600-55162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:55148600-55163800	Strong transcription	NHLF	lung
9	chr4:55148600-55166400	Strong transcription	Osteobl	bone
10	chr4:55148800-55161400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:55148800-55162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:55149400-55162600	Weak transcription	Psoas Muscle	Psoas
13	chr4:55149400-55166400	Strong transcription	NHDF-Ad	bronchial
14	chr4:55149600-55162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:55149800-55164000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:55150000-55166000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:55150200-55163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:55150200-55164000	Strong transcription	Fetal Lung	lung
19	chr4:55150200-55165200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:55150200-55166200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:55150400-55162400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:55150400-55165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:55150400-55165600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:55151200-55161800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr4:55151200-55164400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:55151600-55161600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:55152000-55165000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:55152200-55162400	Weak transcription	Liver	Liver
29	chr4:55152200-55162600	Weak transcription	Right Atrium	heart
30	chr4:55153200-55166800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:55155400-55163400	Weak transcription	Fetal Intestine Large	intestine
32	chr4:55156600-55168400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:55156800-55162600	Weak transcription	Left Ventricle	heart
34	chr4:55156800-55162600	Weak transcription	Right Ventricle	heart
35	chr4:55156800-55163000	Weak transcription	Spleen	Spleen
36	chr4:55157000-55164200	Weak transcription	Esophagus	oesophagus
37	chr4:55157000-55165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:55157200-55166000	Weak transcription	NH-A	brain
39	chr4:55157400-55163000	Weak transcription	Adipose Nuclei	Adipose
40	chr4:55157400-55166000	Weak transcription	Placenta	Placenta
41	chr4:55159000-55165400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:55159400-55161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:55159600-55163200	Weak transcription	Fetal Kidney	kidney
44	chr4:55160200-55161800	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:55160600-55161800	Genic enhancers	Aorta	Aorta
46	chr4:55160600-55161800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:55160800-55161200	ZNF genes & repeats	Fetal Stomach	stomach
48	chr4:55160800-55161600	Enhancers	Pancreas	Pancrea
49	chr4:55161000-55164400	Weak transcription	Fetal Intestine Small	intestine

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