Variant report

Variant	rs4743381
Chromosome Location	chr9:102817835-102817836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102802180..102804566-chr9:102815322..102818278,2	MCF-7	breast:
2	chr9:102812971..102814743-chr9:102816744..102819684,2	K562	blood:

Extended variants
information (count: 144 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10116798	0.83[ASN][1000 genomes]
rs10117150	0.83[ASN][1000 genomes]
rs1014651	0.83[ASN][1000 genomes]
rs10739795	0.89[ASN][1000 genomes]
rs10739796	0.81[ASN][1000 genomes]
rs10760710	0.89[ASN][1000 genomes]
rs10760711	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10760712	0.89[ASN][1000 genomes]
rs10760720	0.83[ASN][1000 genomes]
rs10819714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10819715	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10819716	0.89[ASN][1000 genomes]
rs10819717	0.89[ASN][1000 genomes]
rs10819719	0.88[ASN][1000 genomes]
rs10819737	0.83[ASN][1000 genomes]
rs10819739	0.86[ASN][1000 genomes]
rs10988934	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10988945	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10988963	0.89[ASN][1000 genomes]
rs10988968	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10988969	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10988973	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10988974	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10989009	0.83[ASN][1000 genomes]
rs12336751	0.83[ASN][1000 genomes]
rs12552646	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12685650	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13301295	0.83[ASN][1000 genomes]
rs1342147	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1361668	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1406613	0.89[ASN][1000 genomes]
rs1415926	0.81[ASN][1000 genomes]
rs1418267	0.89[ASN][1000 genomes]
rs1529191	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1529192	0.89[ASN][1000 genomes]
rs1529193	0.89[ASN][1000 genomes]
rs1534726	0.88[ASN][1000 genomes]
rs1535667	0.89[ASN][1000 genomes]
rs1539297	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1572607	0.84[ASN][1000 genomes]
rs1578644	0.89[ASN][1000 genomes]
rs1578645	0.89[ASN][1000 genomes]
rs1578646	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1852864	0.89[ASN][1000 genomes]
rs1852865	0.89[ASN][1000 genomes]
rs1891334	0.81[ASN][1000 genomes]
rs1999877	0.83[ASN][1000 genomes]
rs2057476	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2093696	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2096158	0.89[ASN][1000 genomes]
rs2104273	0.89[ASN][1000 genomes]
rs2181579	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2209082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2476439	0.86[ASN][1000 genomes]
rs2476441	0.83[ASN][1000 genomes]
rs2476442	0.83[ASN][1000 genomes]
rs2698999	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2761053	0.86[ASN][1000 genomes]
rs2761056	0.86[ASN][1000 genomes]
rs2787361	0.86[ASN][1000 genomes]
rs2787364	0.81[ASN][1000 genomes]
rs2787366	0.86[ASN][1000 genomes]
rs2791335	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2791336	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791337	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2795575	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2806681	0.81[ASN][1000 genomes]
rs2806684	0.81[ASN][1000 genomes]
rs28448789	0.89[ASN][1000 genomes]
rs35493819	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41346545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4495492	0.86[ASN][1000 genomes]
rs4503155	0.89[ASN][1000 genomes]
rs4517187	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4742779	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743375	0.89[ASN][1000 genomes]
rs4743376	0.89[ASN][1000 genomes]
rs4743379	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4743380	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4743382	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743384	0.81[ASN][1000 genomes]
rs4743386	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6478991	0.89[ASN][1000 genomes]
rs6478994	0.89[ASN][1000 genomes]
rs6478995	0.89[ASN][1000 genomes]
rs6478996	0.89[ASN][1000 genomes]
rs6478997	0.89[ASN][1000 genomes]
rs6478998	0.89[ASN][1000 genomes]
rs6479000	0.89[ASN][1000 genomes]
rs6479001	0.86[ASN][1000 genomes]
rs6479002	0.86[ASN][1000 genomes]
rs7018981	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7022493	0.89[ASN][1000 genomes]
rs7024016	0.89[ASN][1000 genomes]
rs7025300	0.89[ASN][1000 genomes]
rs7026532	0.89[ASN][1000 genomes]
rs7027414	0.89[ASN][1000 genomes]
rs7029020	0.89[ASN][1000 genomes]
rs7029048	0.89[ASN][1000 genomes]
rs7032333	0.89[ASN][1000 genomes]
rs7033091	0.89[ASN][1000 genomes]
rs7036518	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7037362	0.89[ASN][1000 genomes]
rs7041338	0.89[ASN][1000 genomes]
rs7042194	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7042912	0.89[ASN][1000 genomes]
rs7043057	0.89[ASN][1000 genomes]
rs7044219	0.89[ASN][1000 genomes]
rs7047092	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7846794	0.86[ASN][1000 genomes]
rs7847213	0.86[ASN][1000 genomes]
rs7853485	0.88[ASN][1000 genomes]
rs7856844	0.86[ASN][1000 genomes]
rs7857530	0.89[ASN][1000 genomes]
rs7858606	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7859492	0.81[ASN][1000 genomes]
rs7861003	0.86[ASN][1000 genomes]
rs7862460	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7870585	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7874449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs846752	0.83[ASN][1000 genomes]
rs846753	0.81[ASN][1000 genomes]
rs846754	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs846755	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs846756	0.86[ASN][1000 genomes]
rs846758	0.86[ASN][1000 genomes]
rs846759	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs846761	0.86[ASN][1000 genomes]
rs846762	0.91[ASN][1000 genomes]
rs846766	0.83[ASN][1000 genomes]
rs846768	0.83[ASN][1000 genomes]
rs846769	0.83[ASN][1000 genomes]
rs846770	0.83[ASN][1000 genomes]
rs860171	0.84[ASN][1000 genomes]
rs863668	0.86[ASN][1000 genomes]
rs9408993	0.83[EUR][1000 genomes]
rs942163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9695692	0.83[ASN][1000 genomes]
rs9886877	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4743381	STX17	cis	Esophagus Mucosa	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102729600-102826800	Weak transcription	HMEC	breast
2	chr9:102767000-102820400	Weak transcription	Colonic Mucosa	Colon
3	chr9:102767200-102821800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:102767600-102826400	Weak transcription	Small Intestine	intestine
5	chr9:102767600-102845600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:102767800-102830000	Weak transcription	HSMMtube	muscle
7	chr9:102767800-102835600	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:102783800-102819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:102788600-102825600	Weak transcription	A549	lung
10	chr9:102796400-102826000	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:102796400-102828800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr9:102797400-102821000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr9:102797400-102827800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:102800000-102819200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:102800000-102820400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:102800000-102828800	Weak transcription	Aorta	Aorta
17	chr9:102800000-102828800	Weak transcription	Gastric	stomach
18	chr9:102800000-102828800	Weak transcription	Pancreas	Pancrea
19	chr9:102800000-102828800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
21	chr9:102800200-102821200	Weak transcription	Ovary	ovary
22	chr9:102800200-102828800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr9:102800200-102836400	Weak transcription	Fetal Stomach	stomach
24	chr9:102802400-102829000	Weak transcription	Psoas Muscle	Psoas
25	chr9:102804000-102826000	Weak transcription	NHDF-Ad	bronchial
26	chr9:102805400-102844800	Weak transcription	Thymus	Thymus
27	chr9:102806000-102825600	Weak transcription	NHLF	lung
28	chr9:102806400-102823200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:102807400-102844800	Weak transcription	Fetal Brain Male	brain
30	chr9:102807800-102818800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr9:102808200-102825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:102809600-102825000	Weak transcription	Fetal Kidney	kidney
33	chr9:102809600-102828600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr9:102809600-102828600	Weak transcription	Brain Substantia Nigra	brain
35	chr9:102809800-102819400	Weak transcription	Fetal Heart	heart
36	chr9:102809800-102845600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:102810000-102839200	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:102810400-102825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:102810800-102845400	Weak transcription	Fetal Brain Female	brain
40	chr9:102811600-102825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:102811800-102818800	Weak transcription	Fetal Intestine Small	intestine
42	chr9:102811800-102823400	Weak transcription	Lung	lung
43	chr9:102812600-102826800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr9:102813400-102818400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:102813600-102819000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr9:102813800-102823600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr9:102813800-102828400	Weak transcription	Brain Angular Gyrus	brain
48	chr9:102814000-102820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:102814000-102820800	Weak transcription	HSMM	muscle
50	chr9:102814000-102821000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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