Variant report

Variant	rs10760700
Chromosome Location	chr9:102681811-102681812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102679685..102682942-chr9:102684269..102688000,3	K562	blood:
2	chr9:102668908..102670429-chr9:102679141..102681876,2	MCF-7	breast:
3	chr9:102681063..102683683-chr9:102683801..102687863,4	MCF-7	breast:
4	chr9:102674290..102678149-chr9:102678845..102681918,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136874	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10116142	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10117638	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10117828	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118565	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10120103	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121601	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10121880	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122128	0.93[ASN][1000 genomes]
rs10123261	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124366	0.81[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10125981	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10217337	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217366	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217692	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512268	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055187	0.81[JPT][hapmap]
rs10739791	0.93[ASN][1000 genomes]
rs10739792	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs10739793	0.93[ASN][1000 genomes]
rs10739794	0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs10760698	0.92[ASN][1000 genomes]
rs10760699	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10760704	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760705	0.92[ASN][1000 genomes]
rs10760706	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819705	0.92[ASN][1000 genomes]
rs10819706	0.93[ASN][1000 genomes]
rs10819707	0.93[ASN][1000 genomes]
rs10819711	0.93[ASN][1000 genomes]
rs10819712	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs10988919	0.93[ASN][1000 genomes]
rs10988920	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12352899	0.93[ASN][1000 genomes]
rs1529191	0.81[YRI][hapmap]
rs16918878	0.87[JPT][hapmap]
rs1830454	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852863	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881751	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962051	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1969577	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1997367	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997368	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031035	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057476	0.83[YRI][hapmap]
rs2181579	0.81[YRI][hapmap]
rs2416935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416936	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2416937	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416938	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2416940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416942	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900224	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739794	0.93[ASN][1000 genomes]
rs3983846	0.92[ASN][1000 genomes]
rs4282626	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452862	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585797	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742777	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742778	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742779	0.83[YRI][hapmap]
rs4743370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478987	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478988	0.92[ASN][1000 genomes]
rs6478990	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022208	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7022999	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027619	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027813	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7030388	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs7038506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039716	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853264	0.93[ASN][1000 genomes]
rs9299335	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556	0.92[CEU][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10760700	STX17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102669800-102682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:102669800-102684600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:102669800-102684800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:102669800-102686000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:102669800-102686200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:102669800-102687600	Weak transcription	Stomach Mucosa	stomach
7	chr9:102669800-102729800	Weak transcription	Small Intestine	intestine
8	chr9:102670000-102684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:102670000-102684400	Weak transcription	HSMMtube	muscle
10	chr9:102670000-102686000	Weak transcription	Psoas Muscle	Psoas
11	chr9:102670000-102688200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:102670400-102686000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:102670400-102688600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:102671200-102719200	Weak transcription	Fetal Heart	heart
15	chr9:102676400-102684600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:102676600-102682200	Strong transcription	Fetal Lung	lung
17	chr9:102676600-102684800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr9:102676600-102688000	Strong transcription	Primary B cells from cord blood	blood
19	chr9:102677400-102682600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:102677400-102685600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:102677400-102686600	Strong transcription	Placenta	Placenta
22	chr9:102677400-102686600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr9:102677600-102682000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:102677600-102682000	Strong transcription	Adipose Nuclei	Adipose
25	chr9:102677600-102682400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr9:102677600-102682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:102677600-102682800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:102677600-102683200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:102677600-102684800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:102677600-102685200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:102677600-102685800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:102677600-102686000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr9:102677600-102686400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:102677600-102686600	Strong transcription	Fetal Intestine Large	intestine
35	chr9:102677600-102686800	Strong transcription	Liver	Liver
36	chr9:102677600-102687000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr9:102677600-102687200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr9:102677600-102687800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:102677800-102682000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:102677800-102682000	Strong transcription	Fetal Muscle Leg	muscle
41	chr9:102677800-102682200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:102677800-102682800	Strong transcription	GM12878-XiMat	blood
43	chr9:102677800-102684800	Strong transcription	Fetal Thymus	thymus
44	chr9:102677800-102686600	Strong transcription	HepG2	liver
45	chr9:102677800-102687200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr9:102677800-102687400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:102678000-102682000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr9:102678000-102683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:102678000-102684800	Strong transcription	Hela-S3	cervix
50	chr9:102678200-102682000	Strong transcription	Brain Substantia Nigra	brain

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