Variant report

Variant	rs547971226
Chromosome Location	chr3:87039151-87039152
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534036	chr3:86967129-87283600	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1000548	chr3:87034157-87331360	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3340343	chr3:87038787-87041635	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87031600-87039600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:87032800-87039200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:87033000-87041000	Active TSS	Placenta	Placenta
4	chr3:87033800-87041200	Active TSS	HSMMtube	muscle
5	chr3:87034800-87040600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:87035400-87041000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:87035600-87040600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:87035800-87041200	Active TSS	Ovary	ovary
9	chr3:87035800-87041400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:87036200-87041000	Active TSS	Right Atrium	heart
11	chr3:87036800-87040600	Active TSS	NHLF	lung
12	chr3:87037000-87041000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr3:87037000-87041200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:87037200-87040600	Active TSS	Placenta Amnion	Placenta Amnion
15	chr3:87037200-87040800	Active TSS	HSMM	muscle
16	chr3:87037200-87041000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:87037400-87039400	Active TSS	Fetal Muscle Trunk	muscle
18	chr3:87037400-87040600	Active TSS	Osteobl	bone
19	chr3:87037400-87040800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:87037600-87039400	Active TSS	Adipose Nuclei	Adipose
21	chr3:87037600-87040800	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr3:87037600-87040800	Active TSS	Hela-S3	cervix
23	chr3:87037600-87041200	Active TSS	Fetal Lung	lung
24	chr3:87038000-87039200	Flanking Active TSS	HUVEC	blood vessel
25	chr3:87038000-87039400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:87038000-87041000	Active TSS	Aorta	Aorta
27	chr3:87038200-87039800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:87038200-87041000	Active TSS	Colon Smooth Muscle	Colon
29	chr3:87038400-87039400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr3:87038400-87039400	Active TSS	Psoas Muscle	Psoas
31	chr3:87038400-87039800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr3:87038400-87039800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:87038400-87041000	Active TSS	Right Ventricle	heart
34	chr3:87038600-87039600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:87038600-87039800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr3:87038600-87040600	Active TSS	NH-A	brain
37	chr3:87038600-87040800	Active TSS	A549	lung
38	chr3:87038600-87040800	Active TSS	NHDF-Ad	bronchial
39	chr3:87038600-87041000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:87038800-87039200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:87038800-87039400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr3:87038800-87039400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr3:87038800-87039400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:87038800-87039800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr3:87038800-87039800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr3:87038800-87039800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
47	chr3:87038800-87040600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr3:87039000-87039200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:87039000-87039200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
50	chr3:87039000-87039200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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