Variant report

Variant	rs620715
Chromosome Location	chr6:147570239-147570240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147565658..147568685-chr6:147568738..147571330,4	K562	blood:
2	chr6:147570173..147572962-chr6:147576488..147578515,2	K562	blood:
3	chr6:147565112..147568685-chr6:147569145..147570967,3	K562	blood:
4	chr6:147568954..147571594-chr6:147577183..147580125,4	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1039083	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039084	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1039085	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039086	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1147844	0.80[EUR][1000 genomes]
rs1147845	0.89[ASN][1000 genomes]
rs1147846	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147847	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12173905	0.97[ASN][1000 genomes]
rs12191720	0.89[ASN][1000 genomes]
rs12199542	0.86[ASN][1000 genomes]
rs1221638	0.86[EUR][1000 genomes]
rs12527235	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496031	0.82[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap]
rs1660687	0.82[EUR][1000 genomes]
rs1992389	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2068111	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119490	0.81[EUR][1000 genomes]
rs2218221	0.81[EUR][1000 genomes]
rs2502732	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2582924	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2582925	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2582929	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2786183	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786184	0.80[EUR][1000 genomes]
rs2786185	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2786187	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2786189	0.83[CHB][hapmap]
rs2850177	0.89[ASN][1000 genomes]
rs474990	0.83[EUR][1000 genomes]
rs486867	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896904	0.82[CEU][hapmap];0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs4896907	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519630	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs533201	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs556493	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs562417	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs566028	0.93[ASW][hapmap];0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.83[LWK][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs577877	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs580657	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs584456	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs588273	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58987334	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs591355	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs597631	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598038	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs608147	0.83[EUR][1000 genomes]
rs614476	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617975	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs618474	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs619175	0.82[EUR][1000 genomes]
rs619626	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62435617	0.98[ASN][1000 genomes]
rs62435630	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633603	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656728	0.83[CHB][hapmap]
rs657155	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs659399	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664203	0.82[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs673944	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928919	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932613	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7739314	0.89[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7762087	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7769576	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9373522	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9377048	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9390459	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390460	0.89[ASN][1000 genomes]
rs9390463	0.86[ASN][1000 genomes]
rs9399597	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9399598	0.82[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.82[MKK][hapmap];0.85[ASN][1000 genomes]
rs9399599	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs620715	STXBP5	cis	lymphoblastoid	seeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147572200	Weak transcription	Lung	lung
2	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
4	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
5	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:147528800-147572000	Weak transcription	A549	lung
7	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
8	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
9	chr6:147530000-147572000	Weak transcription	NHEK	skin
10	chr6:147533200-147572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:147534000-147572200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:147537600-147572200	Weak transcription	Ovary	ovary
13	chr6:147537800-147571600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:147538200-147572200	Weak transcription	Spleen	Spleen
15	chr6:147538400-147572200	Weak transcription	Fetal Lung	lung
16	chr6:147538800-147572200	Weak transcription	Placenta	Placenta
17	chr6:147540200-147572000	Weak transcription	Thymus	Thymus
18	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:147543800-147572200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:147544000-147572200	Weak transcription	GM12878-XiMat	blood
22	chr6:147544200-147574200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:147544400-147574800	Weak transcription	HepG2	liver
24	chr6:147545600-147571600	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
26	chr6:147549200-147572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:147549600-147572200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:147549600-147578200	Weak transcription	Fetal Heart	heart
30	chr6:147549600-147584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:147549600-147587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
33	chr6:147554600-147590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:147556200-147574600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr6:147556400-147572200	Weak transcription	Brain Angular Gyrus	brain
36	chr6:147556400-147572200	Weak transcription	Gastric	stomach
37	chr6:147557200-147572200	Weak transcription	Brain Germinal Matrix	brain
38	chr6:147557400-147572000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:147557600-147571600	Weak transcription	Liver	Liver
40	chr6:147557600-147572200	Weak transcription	Colonic Mucosa	Colon
41	chr6:147558000-147572200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:147559600-147570400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:147559600-147571400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:147559600-147572000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:147559600-147572200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:147560200-147574200	Weak transcription	Dnd41	blood
47	chr6:147560600-147572200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:147561600-147600800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:147562600-147572000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:147562600-147599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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