Variant report

Variant	rs7739314
Chromosome Location	chr6:147709180-147709181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STXBP5-3	chr6:147708957-147709300	expReg_chr6_10989_+

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1039083	0.82[ASN][1000 genomes]
rs1039084	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1039085	0.82[ASN][1000 genomes]
rs1039086	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1147846	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1147847	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12173905	0.85[ASN][1000 genomes]
rs12191720	0.92[ASN][1000 genomes]
rs12199542	0.92[ASN][1000 genomes]
rs12527235	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1496031	0.85[CHD][hapmap]
rs1992389	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2328813	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502732	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2582924	0.82[ASN][1000 genomes]
rs2582929	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2786183	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2786185	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2786187	0.85[ASN][1000 genomes]
rs4896904	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4896906	0.88[ASN][1000 genomes]
rs4896907	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4896908	0.86[ASN][1000 genomes]
rs562417	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566028	0.81[JPT][hapmap]
rs580657	0.86[ASN][1000 genomes]
rs584456	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58987334	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs591355	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs597631	0.89[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs614476	0.89[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs618474	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs619626	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs620715	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62435617	0.86[ASN][1000 genomes]
rs62435630	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs633603	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs656728	0.83[CHB][hapmap]
rs659399	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs673944	0.87[ASN][1000 genomes]
rs6928919	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932613	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7762087	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7765526	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7769576	0.90[ASN][1000 genomes]
rs9373522	0.90[ASN][1000 genomes]
rs9373523	0.82[EUR][1000 genomes]
rs9377048	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9390458	0.82[GIH][hapmap]
rs9390459	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390460	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390461	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9390462	0.84[EUR][1000 genomes]
rs9390463	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399597	0.90[ASN][1000 genomes]
rs9399598	0.89[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs9399599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking 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	21 gene(s)	inside rSNPs	diseases
2	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1016430	chr6:147662541-147711882	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv886759	chr6:147686274-147764267	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
3	chr6:147680400-147710600	Weak transcription	Pancreas	Pancrea
4	chr6:147680400-147721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:147685600-147714200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:147687800-147724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:147688000-147710600	Weak transcription	A549	lung
8	chr6:147693200-147709600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:147694400-147709800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr6:147694800-147711200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:147704200-147709400	Strong transcription	NHDF-Ad	bronchial
12	chr6:147704200-147717600	Weak transcription	Fetal Stomach	stomach
13	chr6:147704600-147709200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:147705800-147710600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:147705800-147710800	Weak transcription	NH-A	brain
16	chr6:147706200-147710600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:147706200-147713000	Weak transcription	HepG2	liver
18	chr6:147706400-147710600	Weak transcription	Primary B cells from cord blood	blood
19	chr6:147706400-147710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:147706400-147710600	Weak transcription	NHLF	lung
21	chr6:147706400-147710800	Weak transcription	HSMMtube	muscle
22	chr6:147706400-147713200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:147706400-147715600	Weak transcription	Aorta	Aorta
24	chr6:147706400-147715600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:147706400-147715800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:147706400-147715800	Weak transcription	HMEC	breast
27	chr6:147706400-147716800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:147706600-147710600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:147706600-147710600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:147706600-147716000	Weak transcription	HSMM	muscle
31	chr6:147706800-147710600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:147706800-147710600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:147706800-147710800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:147706800-147711000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:147706800-147712200	Weak transcription	Adipose Nuclei	Adipose
36	chr6:147706800-147712200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:147706800-147716800	Weak transcription	Fetal Kidney	kidney
38	chr6:147707000-147710200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:147707000-147710800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:147707000-147711800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:147707000-147713600	Weak transcription	Primary T cells from cord blood	blood
42	chr6:147707200-147713400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:147707200-147713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:147707200-147715600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:147707400-147715800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:147707400-147716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:147707400-147718400	Weak transcription	K562	blood
48	chr6:147708200-147709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:147708800-147709600	Strong transcription	Osteobl	bone
50	chr6:147709000-147709400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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