Variant report

Variant	rs9830284
Chromosome Location	chr3:99800019-99800020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12330859	0.83[AFR][1000 genomes]
rs13320602	1.00[YRI][hapmap]
rs13326499	1.00[AFR][1000 genomes]
rs16841897	1.00[AFR][1000 genomes]
rs16841922	0.83[AFR][1000 genomes]
rs9816617	1.00[YRI][hapmap]
rs9820656	1.00[AFR][1000 genomes]
rs9826443	1.00[AFR][1000 genomes]
rs9830038	1.00[YRI][hapmap]
rs9831309	1.00[YRI][hapmap]
rs9837440	1.00[AFR][1000 genomes]
rs9841296	1.00[AFR][1000 genomes]
rs9841678	1.00[AFR][1000 genomes]
rs9843812	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9860687	1.00[AFR][1000 genomes]
rs9860986	1.00[YRI][hapmap]
rs9861168	0.83[AFR][1000 genomes]
rs9870654	0.83[AFR][1000 genomes]
rs9871820	0.83[AFR][1000 genomes]
rs9883235	1.00[YRI][hapmap]
rs9883757	1.00[AFR][1000 genomes]
rs9990322	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99767600-99801000	Weak transcription	HSMM	muscle
2	chr3:99793400-99804400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:99793600-99802800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:99793800-99809800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:99795800-99801200	Weak transcription	NHDF-Ad	bronchial
6	chr3:99795800-99866600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:99796000-99801000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:99796200-99802000	Weak transcription	Gastric	stomach
9	chr3:99796200-99804000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:99796200-99807400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:99796400-99801400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:99796400-99801400	Weak transcription	Stomach Mucosa	stomach
13	chr3:99796400-99804400	Weak transcription	Fetal Kidney	kidney
14	chr3:99796400-99805600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:99796600-99801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:99796600-99801400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:99796600-99808800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:99796800-99803800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:99796800-99808600	Weak transcription	Ovary	ovary
20	chr3:99796800-99808800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:99796800-99808800	Weak transcription	Left Ventricle	heart
22	chr3:99798000-99808800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:99798200-99803000	Weak transcription	Primary B cells from cord blood	blood
24	chr3:99798200-99804400	Weak transcription	Psoas Muscle	Psoas
25	chr3:99799200-99800200	Enhancers	Liver	Liver
26	chr3:99799200-99801400	Enhancers	K562	blood
27	chr3:99799200-99801800	Enhancers	Osteobl	bone
28	chr3:99799200-99802200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:99799200-99802400	Enhancers	Fetal Intestine Large	intestine
30	chr3:99799200-99802600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:99799200-99803200	Enhancers	Fetal Intestine Small	intestine
32	chr3:99799400-99801400	Enhancers	Rectal Smooth Muscle	rectum
33	chr3:99799400-99802000	Enhancers	HepG2	liver
34	chr3:99799600-99801200	Weak transcription	HSMMtube	muscle
35	chr3:99799800-99800200	Enhancers	Colon Smooth Muscle	Colon
36	chr3:99799800-99804200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:99799800-99805600	Weak transcription	Small Intestine	intestine
38	chr3:99799800-99805600	Weak transcription	NH-A	brain
39	chr3:99800000-99801200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:99800000-99802200	Enhancers	Fetal Lung	lung
41	chr3:99800000-99805600	Weak transcription	NHLF	lung
42	chr3:99800000-99808800	Weak transcription	Aorta	Aorta

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