Variant report

Variant	rs2625283
Chromosome Location	chr3:101479257-101479258
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2449492	0.83[ASN][1000 genomes]
rs2449493	1.00[ASN][1000 genomes]
rs2466364	1.00[CEU][hapmap]
rs2466369	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2611836	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2611840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2625289	1.00[MEX][hapmap]
rs2722162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722166	1.00[ASN][1000 genomes]
rs665631	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs682610	0.82[EUR][1000 genomes]

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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101445600-101497400	Weak transcription	Fetal Heart	heart
2	chr3:101453800-101487000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:101464200-101486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:101471800-101479400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:101472800-101488400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:101473000-101480800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:101473000-101484400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:101473000-101485400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:101473000-101485400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:101473000-101486000	Strong transcription	Dnd41	blood
11	chr3:101473400-101484600	Strong transcription	Fetal Thymus	thymus
12	chr3:101473600-101479400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:101473800-101484600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:101473800-101487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:101474000-101481200	Strong transcription	Fetal Brain Female	brain
16	chr3:101474000-101484400	Strong transcription	Thymus	Thymus
17	chr3:101474200-101479400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:101474200-101480400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:101474200-101483000	Strong transcription	Brain Germinal Matrix	brain
20	chr3:101474200-101484400	Strong transcription	Primary T cells from cord blood	blood
21	chr3:101474200-101484400	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:101474400-101485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:101474800-101490600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:101475000-101479600	Weak transcription	Colonic Mucosa	Colon
25	chr3:101475000-101483800	Weak transcription	Hela-S3	cervix
26	chr3:101475000-101486400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:101475600-101485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:101475600-101488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:101475800-101482800	Weak transcription	Fetal Intestine Small	intestine
30	chr3:101476800-101479600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:101477000-101487200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:101477200-101480000	Weak transcription	HUVEC	blood vessel
33	chr3:101477200-101480200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:101477200-101497400	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:101477400-101480400	Weak transcription	Brain Angular Gyrus	brain
36	chr3:101477400-101480400	Weak transcription	NHDF-Ad	bronchial
37	chr3:101477400-101481400	Weak transcription	Fetal Brain Male	brain
38	chr3:101477400-101486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:101477400-101486600	Weak transcription	Esophagus	oesophagus
40	chr3:101477400-101497600	Weak transcription	Right Ventricle	heart
41	chr3:101477600-101482200	Weak transcription	GM12878-XiMat	blood
42	chr3:101477600-101482200	Weak transcription	HSMMtube	muscle
43	chr3:101477600-101483800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:101477600-101484000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:101477600-101486000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:101477600-101486000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:101477600-101488400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:101477600-101488400	Weak transcription	Spleen	Spleen
49	chr3:101477600-101497400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:101477800-101481600	Weak transcription	Osteobl	bone

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