Variant report

Variant	rs6778383
Chromosome Location	chr3:142321651-142321652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11714244	0.80[JPT][hapmap]
rs11719737	0.80[JPT][hapmap]
rs11720007	0.80[JPT][hapmap]
rs11720762	0.80[JPT][hapmap]
rs2140433	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs2140434	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs2177397	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs2229032	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs2306700	0.80[JPT][hapmap]
rs4398471	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs6440096	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs6773213	1.00[CEU][hapmap]
rs6797745	1.00[CEU][hapmap]
rs6800573	1.00[CEU][hapmap]
rs7622648	0.91[CEU][hapmap]
rs7638338	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7647212	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7647497	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap]
rs9847445	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs9857567	1.00[CEU][hapmap]
rs9858204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9862686	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs9868309	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142315800-142324400	Weak transcription	Lung	lung
2	chr3:142316200-142331000	Weak transcription	Small Intestine	intestine
3	chr3:142317000-142327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:142317200-142321800	Weak transcription	Thymus	Thymus
5	chr3:142317200-142337600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:142317400-142322200	Weak transcription	Dnd41	blood
7	chr3:142317400-142322800	Weak transcription	Hela-S3	cervix
8	chr3:142317400-142323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:142317400-142327400	Weak transcription	K562	blood
10	chr3:142317400-142337800	Weak transcription	HepG2	liver
11	chr3:142319400-142330000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:142319600-142324200	Weak transcription	Pancreas	Pancrea
13	chr3:142320400-142324600	Enhancers	Fetal Intestine Large	intestine
14	chr3:142320600-142321800	Enhancers	Colonic Mucosa	Colon
15	chr3:142321000-142321800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:142321000-142322000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr3:142321200-142325200	Enhancers	Fetal Intestine Small	intestine
18	chr3:142321400-142322000	Weak transcription	Stomach Mucosa	stomach
19	chr3:142321400-142322600	Active TSS	Duodenum Mucosa	Duodenum
20	chr3:142321400-142322800	Active TSS	Rectal Mucosa Donor 29	rectum

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