Variant report

Variant	rs1477849
Chromosome Location	chr3:110881017-110881018
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]
rs1351048	0.83[AFR][1000 genomes]
rs1477836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2399372	1.00[AMR][1000 genomes]
rs57955193	0.87[AMR][1000 genomes]
rs59251988	0.87[AMR][1000 genomes]
rs59529850	0.87[AMR][1000 genomes]
rs6437946	1.00[AMR][1000 genomes]
rs6784517	0.87[AMR][1000 genomes]
rs6797524	0.87[AMR][1000 genomes]
rs7632518	1.00[AMR][1000 genomes]
rs9850093	0.95[AFR][1000 genomes];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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1008308	chr3:110836281-110885834	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
4	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
5	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:110834000-110891800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:110848200-110891800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
13	chr3:110853200-110897000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:110853200-110911000	Weak transcription	NH-A	brain
15	chr3:110857800-110892000	Weak transcription	Adipose Nuclei	Adipose
16	chr3:110864200-110891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:110870200-110891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:110871200-110896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:110871600-110889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:110871600-110892200	Weak transcription	NHLF	lung
23	chr3:110872000-110889800	Weak transcription	Pancreas	Pancrea
24	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:110872800-110893400	Weak transcription	Gastric	stomach
27	chr3:110872800-110896000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:110873400-110883600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:110873800-110889400	Weak transcription	Aorta	Aorta
30	chr3:110874200-110893400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:110874200-110893400	Weak transcription	Fetal Intestine Small	intestine
32	chr3:110874200-110894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:110874400-110911800	Weak transcription	Left Ventricle	heart
35	chr3:110874800-110884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:110874800-110889000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:110874800-110891600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:110875000-110889400	Weak transcription	Liver	Liver
40	chr3:110875000-110891600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:110875200-110897600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:110875600-110885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:110877800-110891600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:110878800-110881400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:110878800-110888400	Weak transcription	NHDF-Ad	bronchial
46	chr3:110879600-110882200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:110879600-110882400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:110879800-110881400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr3:110880000-110881800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:110880000-110882200	Strong transcription	HSMM	muscle

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