Variant report

Variant	rs9829693
Chromosome Location	chr3:99682433-99682434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12330859	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs13327351	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs1387648	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs16841824	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs16841897	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs28615925	1.00[AFR][1000 genomes]
rs4434174	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs7428828	1.00[AFR][1000 genomes]
rs9819861	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs9820656	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9825938	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9830127	1.00[AFR][1000 genomes]
rs9831309	0.83[AFR][1000 genomes]
rs9841296	1.00[ASW][hapmap]
rs9843300	0.83[AFR][1000 genomes]
rs9862384	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9871820	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs9879459	1.00[AFR][1000 genomes]
rs9883757	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99657600-99686600	Weak transcription	Primary B cells from cord blood	blood
2	chr3:99671600-99684200	Weak transcription	NHEK	skin
3	chr3:99671600-99688200	Weak transcription	Primary T cells from cord blood	blood
4	chr3:99677400-99696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:99677600-99684400	Weak transcription	Fetal Stomach	stomach
6	chr3:99677600-99684400	Weak transcription	Pancreas	Pancrea
7	chr3:99677600-99684600	Weak transcription	Lung	lung
8	chr3:99677600-99692600	Weak transcription	Fetal Lung	lung
9	chr3:99678800-99691800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:99679400-99684400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:99679600-99688200	Weak transcription	GM12878-XiMat	blood
12	chr3:99679600-99697000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:99680000-99683000	Weak transcription	HepG2	liver
14	chr3:99680000-99684400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:99680200-99682600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:99680200-99682600	Enhancers	Psoas Muscle	Psoas
17	chr3:99680200-99683200	Weak transcription	Stomach Mucosa	stomach
18	chr3:99680200-99683800	Weak transcription	HUVEC	blood vessel
19	chr3:99680200-99684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:99680200-99684400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:99680400-99683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:99680600-99685600	Weak transcription	Adipose Nuclei	Adipose
23	chr3:99681000-99684800	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:99681000-99685800	Weak transcription	Fetal Heart	heart
25	chr3:99681200-99683200	Weak transcription	Fetal Intestine Small	intestine
26	chr3:99681200-99683400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:99681200-99684200	Weak transcription	Ovary	ovary
28	chr3:99681200-99684200	Weak transcription	Small Intestine	intestine
29	chr3:99681200-99684800	Weak transcription	Right Atrium	heart
30	chr3:99681200-99685600	Weak transcription	Gastric	stomach
31	chr3:99681800-99683400	Weak transcription	Aorta	Aorta
32	chr3:99682000-99683200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:99682000-99683200	Weak transcription	Left Ventricle	heart
34	chr3:99682000-99683200	Weak transcription	Right Ventricle	heart
35	chr3:99682000-99683400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:99682000-99683600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:99682000-99684600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:99682000-99685000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:99682200-99683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:99682200-99683200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:99682200-99683400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:99682200-99683400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:99682200-99684200	Weak transcription	HSMM	muscle
44	chr3:99682200-99684600	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:99682400-99683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:99682400-99683400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:99682400-99683400	Weak transcription	Osteobl	bone
48	chr3:99682400-99684200	Weak transcription	HSMMtube	muscle
49	chr3:99682400-99685600	Weak transcription	Placenta Amnion	Placenta Amnion

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