Variant report

Variant	rs10003750
Chromosome Location	chr4:186605693-186605694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1542847	0.83[ASN][1000 genomes]
rs4376189	0.93[ASN][1000 genomes]
rs4407549	0.93[ASN][1000 genomes]
rs4640708	0.93[ASN][1000 genomes]
rs4862561	0.93[ASN][1000 genomes]
rs7688359	0.83[ASN][1000 genomes]
rs7696530	0.80[ASN][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	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186583400-186607200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:186587200-186610600	Weak transcription	Lung	lung
3	chr4:186595200-186606000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:186596800-186606000	Weak transcription	Right Ventricle	heart
5	chr4:186596800-186610600	Weak transcription	Gastric	stomach
6	chr4:186597200-186626000	Weak transcription	HepG2	liver
7	chr4:186598400-186613200	Weak transcription	Fetal Stomach	stomach
8	chr4:186598600-186610400	Weak transcription	Aorta	Aorta
9	chr4:186598600-186610600	Weak transcription	Pancreas	Pancrea
10	chr4:186598600-186615800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:186600400-186605800	Enhancers	Fetal Heart	heart
13	chr4:186601000-186615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:186602400-186614800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:186603000-186606800	Weak transcription	Esophagus	oesophagus
16	chr4:186603600-186605800	Weak transcription	HSMM	muscle
17	chr4:186603600-186605800	Weak transcription	NHDF-Ad	bronchial
18	chr4:186603600-186606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:186603800-186614800	Weak transcription	NH-A	brain
20	chr4:186604000-186606000	Enhancers	Right Atrium	heart
21	chr4:186604000-186606800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:186604000-186606800	Weak transcription	Osteobl	bone
23	chr4:186604000-186613400	Weak transcription	HUVEC	blood vessel
24	chr4:186604200-186606200	Enhancers	Liver	Liver
25	chr4:186604200-186614400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:186604400-186606800	Enhancers	HSMMtube	muscle
27	chr4:186605200-186606200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:186605200-186606200	Genic enhancers	Left Ventricle	heart
29	chr4:186605400-186606600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:186605400-186606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:186605600-186606200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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