Variant report

Variant	rs7047789
Chromosome Location	chr9:72956458-72956459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:72955200-72956544	A549	lung:	n/a	chr9:72955686-72955707

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72956192..72958167-chr9:72961321..72962901,2	K562	blood:

Variant related genes	Relation type
SMC5	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10116549	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10117899	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10125454	0.80[EUR][1000 genomes]
rs10126027	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10780870	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10780871	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10780924	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs10868742	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10868800	1.00[CHB][hapmap]
rs10868807	0.94[AFR][1000 genomes]
rs10868808	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs1112937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11141917	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142348	1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[ASN][1000 genomes]
rs11142354	0.82[AFR][1000 genomes]
rs11142356	0.82[AFR][1000 genomes]
rs11142363	0.85[LWK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs11142364	1.00[CHB][hapmap]
rs11142365	0.97[EUR][1000 genomes]
rs11142367	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11142368	0.95[LWK][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11142370	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs11142371	0.90[AFR][1000 genomes]
rs11142372	1.00[CHB][hapmap]
rs11142373	0.85[LWK][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs11142374	0.92[AFR][1000 genomes]
rs11142375	0.96[ASN][1000 genomes]
rs11142377	1.00[CHB][hapmap]
rs11142379	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs11142380	0.97[EUR][1000 genomes]
rs11142381	0.97[EUR][1000 genomes]
rs11521805	1.00[CHB][hapmap]
rs1180081	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180082	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1180083	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180084	0.82[YRI][hapmap]
rs1180086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180088	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180089	1.00[CHB][hapmap]
rs1180091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180099	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180100	1.00[CHB][hapmap]
rs1180101	0.96[YRI][hapmap]
rs1180102	0.81[LWK][hapmap]
rs1180104	0.95[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs1180105	0.88[MEX][hapmap]
rs1180107	0.96[YRI][hapmap]
rs1180110	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs1180111	0.95[EUR][1000 genomes]
rs1180112	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1180113	1.00[CHB][hapmap]
rs1180114	0.80[AFR][1000 genomes]
rs1180117	0.85[LWK][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs1180118	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1180119	1.00[CHB][hapmap]
rs1180120	0.80[AFR][1000 genomes]
rs1180122	0.96[YRI][hapmap]
rs1180124	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs1180126	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1180127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180128	0.86[AFR][1000 genomes]
rs1180132	0.80[AFR][1000 genomes]
rs1180133	0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs11998951	0.95[LWK][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12005666	0.88[AFR][1000 genomes]
rs12006212	0.85[LWK][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs12115787	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12156606	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12349698	0.87[AMR][1000 genomes]
rs12377677	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12377766	0.86[AFR][1000 genomes]
rs12379485	0.84[AFR][1000 genomes]
rs12380844	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17052678	1.00[CHB][hapmap]
rs1887451	0.80[EUR][1000 genomes]
rs1927094	1.00[CHB][hapmap]
rs1927096	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927100	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927118	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1927124	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927130	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927132	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927133	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927134	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927135	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927136	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927144	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1927146	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs1927148	0.81[ASW][hapmap]
rs1986067	0.81[ASN][1000 genomes]
rs2026137	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2148857	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2148859	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2148863	0.80[EUR][1000 genomes]
rs2148866	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2148867	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182734	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182737	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182738	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182741	0.92[ASN][1000 genomes]
rs2183362	0.84[AFR][1000 genomes]
rs2309634	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309645	1.00[CHB][hapmap]
rs2479033	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2768643	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768646	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2773363	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2773366	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2871293	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs4279667	0.85[AFR][1000 genomes]
rs4357361	0.84[AFR][1000 genomes]
rs4384045	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4449855	0.85[LWK][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap]
rs4744989	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4744993	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4744999	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56059804	0.86[AFR][1000 genomes]
rs58720670	0.90[AFR][1000 genomes]
rs58881692	0.81[AFR][1000 genomes]
rs59013777	0.82[AFR][1000 genomes]
rs61531415	0.83[AFR][1000 genomes]
rs6560016	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6560018	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6560129	0.86[AFR][1000 genomes]
rs66524845	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66658020	0.84[AFR][1000 genomes]
rs66756859	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs68171482	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7019147	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7020447	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7024117	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7034322	0.95[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs7043171	1.00[CHB][hapmap]
rs7043789	0.80[ASN][1000 genomes]
rs73454795	0.90[AFR][1000 genomes]
rs73647464	0.80[ASN][1000 genomes]
rs7846908	0.80[ASN][1000 genomes]
rs7852005	0.90[AFR][1000 genomes]
rs7853298	0.80[EUR][1000 genomes]
rs7858389	0.84[AFR][1000 genomes]
rs7858907	0.86[AFR][1000 genomes]
rs7858988	0.85[LWK][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs7860729	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7867727	0.86[AFR][1000 genomes]
rs7869429	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7871674	0.81[AMR][1000 genomes]
rs943534	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs943535	1.00[CHB][hapmap]
rs943536	0.85[LWK][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs943540	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72913800-72957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:72926400-72965000	Weak transcription	Fetal Brain Male	brain
3	chr9:72926400-72967000	Weak transcription	Fetal Heart	heart
4	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
5	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:72941200-72965000	Weak transcription	Hela-S3	cervix
7	chr9:72941400-72965200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:72942800-72961400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:72943000-72966400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr9:72943000-72966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:72943200-72968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:72943400-72963400	Weak transcription	HepG2	liver
13	chr9:72943400-72967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr9:72943600-72970800	Weak transcription	Gastric	stomach
15	chr9:72944000-72957600	Weak transcription	Brain Anterior Caudate	brain
16	chr9:72944000-72962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:72944000-72963200	Weak transcription	Pancreas	Pancrea
18	chr9:72944000-72963400	Weak transcription	Small Intestine	intestine
19	chr9:72944000-72963600	Weak transcription	Fetal Brain Female	brain
20	chr9:72944000-72965200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:72944000-72965200	Weak transcription	Colonic Mucosa	Colon
22	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
24	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:72944200-72961400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr9:72944200-72961600	Weak transcription	Brain Germinal Matrix	brain
28	chr9:72944200-72961800	Weak transcription	Brain Angular Gyrus	brain
29	chr9:72944200-72963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:72944200-72963400	Weak transcription	Esophagus	oesophagus
31	chr9:72944200-72964600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr9:72944200-72968600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
34	chr9:72944200-72974800	Weak transcription	Lung	lung
35	chr9:72944400-72959600	Weak transcription	NHLF	lung
36	chr9:72944400-72963200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr9:72944400-72963800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:72944400-72964000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:72944400-72965200	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:72944400-72965200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:72944400-72966000	Weak transcription	Right Ventricle	heart
42	chr9:72944600-72964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:72944800-72960800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:72945000-72960200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr9:72945000-72965000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:72945200-72963600	Weak transcription	Thymus	Thymus
47	chr9:72946800-72961600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:72947200-72961400	Weak transcription	Adipose Nuclei	Adipose
49	chr9:72947400-72960800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr9:72947400-72965400	Weak transcription	Placenta Amnion	Placenta Amnion

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