Variant report

Variant	rs7164030
Chromosome Location	chr15:78844661-78844662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78844003..78845527-chr15:78845642..78848545,2	K562	blood:
2	chr15:78831431..78836974-chr15:78839813..78847662,20	MCF-7	breast:
3	chr15:78843495..78845892-chr15:78851600..78855221,3	K562	blood:
4	chr15:78841640..78845240-chr15:78856140..78858559,3	K562	blood:
5	chr15:78838010..78843726-chr15:78843842..78847469,5	MCF-7	breast:
6	chr15:78840813..78846169-chr15:78854868..78858995,9	MCF-7	breast:
7	chr15:78844056..78846099-chr15:78848008..78850321,3	K562	blood:
8	chr15:78834823..78836611-chr15:78842594..78844710,2	MCF-7	breast:
9	chr15:78843179..78845391-chr15:78851308..78853669,4	K562	blood:
10	chr15:78843350..78846204-chr15:78880835..78882358,2	K562	blood:
11	chr15:78799588..78802030-chr15:78842026..78844703,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188266	Chromatin interaction
ENSG00000041357	Chromatin interaction
ENSG00000169684	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11630349	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11636131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858230	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591557	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12594391	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12900612	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900783	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12902493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12903129	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12906284	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12906846	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12906951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12907169	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12907425	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12907966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910100	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12910289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12910726	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12910969	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12910978	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12912022	0.90[EUR][1000 genomes]
rs12912673	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12913173	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12914694	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12915366	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12915428	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12915652	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12916999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1504545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1504548	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407257	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1847530	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979908	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28392948	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28438420	0.89[EUR][1000 genomes]
rs2869055	0.88[EUR][1000 genomes]
rs2869544	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3813571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4243083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4275821	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs481134	0.84[CEU][hapmap]
rs4886571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886572	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887062	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5022780	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs555018	0.84[CEU][hapmap]
rs55690619	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56007453	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588765	0.87[CEU][hapmap]
rs601079	0.85[CEU][hapmap]
rs62008174	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62008193	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62008194	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs621849	0.84[CEU][hapmap]
rs647041	0.80[CEU][hapmap]
rs6495306	0.84[CEU][hapmap]
rs6495307	0.81[CEU][hapmap]
rs680244	0.84[CEU][hapmap]
rs7173512	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs8025429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs905740	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv1038816	chr15:78796434-78881087	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7164030	RP11-650L12.2	cis	lung	GTEx
rs7164030	CHRNA5	cis	Heart Left Ventricle	GTEx
rs7164030	CHRNA5	cis	lung	GTEx
rs7164030	CHRNA3	cis	Muscle Skeletal	GTEx
rs7164030	RP11-650L12.2	cis	Esophagus Mucosa	GTEx
rs7164030	CHRNA5	cis	Muscle Skeletal	GTEx
rs7164030	CHRNA5	cis	Esophagus Mucosa	GTEx
rs7164030	RP11-650L12.2	cis	Adipose Subcutaneous	GTEx
rs7164030	CHRNA5	cis	Adipose Subcutaneous	GTEx
rs7164030	RP11-650L12.2	cis	Heart Left Ventricle	GTEx
rs7164030	RP11-650L12.2	cis	Nerve Tibial	GTEx
rs7164030	RP11-650L12.2	cis	Muscle Skeletal	GTEx
rs7164030	CHRNA5	cis	Nerve Tibial	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78834200-78845000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:78836200-78857200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:78841200-78856800	Weak transcription	Hela-S3	cervix
4	chr15:78841800-78844800	Weak transcription	HSMMtube	muscle
5	chr15:78842000-78845000	Weak transcription	Ovary	ovary
6	chr15:78842000-78845800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:78842000-78857400	Weak transcription	Psoas Muscle	Psoas
8	chr15:78842200-78845200	Weak transcription	Fetal Kidney	kidney
9	chr15:78842200-78848600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:78842400-78845000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:78842400-78845400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:78842400-78845600	Weak transcription	Osteobl	bone
13	chr15:78842400-78846400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:78842600-78845000	Weak transcription	NHDF-Ad	bronchial
15	chr15:78842600-78845200	Weak transcription	Colonic Mucosa	Colon
16	chr15:78842800-78845000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:78843000-78845000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:78843000-78845000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:78843000-78845400	Weak transcription	NHEK	skin
20	chr15:78843000-78845800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:78843000-78845800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:78843000-78845800	Weak transcription	Brain Angular Gyrus	brain
23	chr15:78843000-78846000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:78843000-78846600	Weak transcription	NHLF	lung
25	chr15:78843000-78848600	Weak transcription	Brain Substantia Nigra	brain
26	chr15:78843000-78857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:78843200-78845000	Weak transcription	Pancreas	Pancrea
28	chr15:78843200-78845200	Weak transcription	NH-A	brain
29	chr15:78843200-78845400	Weak transcription	Fetal Intestine Small	intestine
30	chr15:78843200-78846200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:78843200-78846400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:78843200-78857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:78843400-78845200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:78843400-78845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:78843400-78845600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:78843400-78845600	Weak transcription	Lung	lung
37	chr15:78843400-78845800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:78843400-78846400	Weak transcription	Placenta	Placenta
39	chr15:78843400-78846400	Weak transcription	HMEC	breast
40	chr15:78843400-78847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:78843400-78847000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:78843400-78850600	Weak transcription	HepG2	liver
43	chr15:78843400-78853600	Weak transcription	K562	blood
44	chr15:78843400-78857000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:78843600-78844800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:78843600-78844800	Weak transcription	Fetal Intestine Large	intestine
47	chr15:78843600-78845200	Enhancers	GM12878-XiMat	blood
48	chr15:78843600-78845600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:78843600-78845600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:78843600-78845600	Weak transcription	Muscle Satellite Cultured Cells	--

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