Variant report

Variant	rs7630301
Chromosome Location	chr3:113061340-113061341
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11923005	0.82[ASN][1000 genomes]
rs12635786	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12636607	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1353903	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1392284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1463640	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129433	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171293	0.87[CHB][hapmap]
rs3732806	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4682134	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6779002	0.81[ASN][1000 genomes]
rs6779305	0.82[ASN][1000 genomes]
rs73235093	0.86[EUR][1000 genomes]
rs73237136	0.82[ASN][1000 genomes]
rs73237142	0.82[ASN][1000 genomes]
rs7632821	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7638599	0.91[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7653187	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9682734	0.83[CHB][hapmap]
rs9857471	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872143	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113013600-113065200	Weak transcription	Left Ventricle	heart
2	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:113036600-113081000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:113036800-113065600	Weak transcription	Aorta	Aorta
5	chr3:113036800-113073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:113036800-113081000	Weak transcription	Gastric	stomach
7	chr3:113036800-113088600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:113037800-113065600	Weak transcription	HSMM	muscle
9	chr3:113042000-113080800	Weak transcription	Ovary	ovary
10	chr3:113042200-113116800	Weak transcription	Primary B cells from cord blood	blood
11	chr3:113042400-113103600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:113043800-113065600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:113045400-113097600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:113045600-113073000	Weak transcription	A549	lung
15	chr3:113049400-113068400	Weak transcription	Hela-S3	cervix
16	chr3:113050200-113065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:113050200-113073000	Weak transcription	Primary T cells from cord blood	blood
18	chr3:113050400-113061800	Weak transcription	Fetal Intestine Small	intestine
19	chr3:113050600-113065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:113059000-113081000	Weak transcription	Fetal Stomach	stomach
21	chr3:113060000-113063200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:113060000-113073200	Weak transcription	Pancreas	Pancrea
23	chr3:113061000-113065800	Weak transcription	Brain Anterior Caudate	brain

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