Variant report

Variant	rs9861265
Chromosome Location	chr3:47194012-47194013
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47187957..47190858-chr3:47193196..47195551,2	K562	blood:
2	chr3:47193971..47196675-chr3:47199347..47201120,2	K562	blood:
3	chr3:47192656..47195424-chr3:47287048..47290020,2	K562	blood:
4	chr3:47122254..47124275-chr3:47192922..47194900,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs1024036	0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1038393	1.00[EUR][1000 genomes]
rs10461017	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10461019	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10865945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865947	1.00[EUR][1000 genomes]
rs1091068	1.00[EUR][1000 genomes]
rs11130108	1.00[EUR][1000 genomes]
rs11130109	1.00[EUR][1000 genomes]
rs11130122	0.87[AMR][1000 genomes]
rs11706212	1.00[EUR][1000 genomes]
rs11708257	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs11709693	1.00[EUR][1000 genomes]
rs11709876	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs11713537	1.00[MEX][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs12330516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631730	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs13062185	1.00[EUR][1000 genomes]
rs13077134	1.00[EUR][1000 genomes]
rs13078181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13079174	0.87[AMR][1000 genomes]
rs13079416	1.00[EUR][1000 genomes]
rs13082531	1.00[EUR][1000 genomes]
rs13084060	1.00[AMR][1000 genomes]
rs13323092	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1378818	1.00[EUR][1000 genomes]
rs1463394	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs1466272	1.00[EUR][1000 genomes]
rs1466273	1.00[EUR][1000 genomes]
rs1473382	1.00[EUR][1000 genomes]
rs1531874	1.00[EUR][1000 genomes]
rs1563431	1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs1872165	1.00[EUR][1000 genomes]
rs1874264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124509	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs2350642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2385869	0.95[YRI][hapmap]
rs28735306	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2891893	0.86[YRI][hapmap]
rs295431	1.00[EUR][1000 genomes]
rs295432	0.90[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295434	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs295443	0.82[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295448	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs295450	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295451	0.88[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295453	1.00[EUR][1000 genomes]
rs295454	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295455	1.00[EUR][1000 genomes]
rs295456	0.90[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295457	0.88[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs295459	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs4018904	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282092	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4289375	1.00[EUR][1000 genomes]
rs4324490	1.00[EUR][1000 genomes]
rs4373094	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4378998	1.00[EUR][1000 genomes]
rs4389512	1.00[EUR][1000 genomes]
rs4450857	1.00[EUR][1000 genomes]
rs4478107	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs448018	1.00[EUR][1000 genomes]
rs4522803	1.00[EUR][1000 genomes]
rs4525902	1.00[EUR][1000 genomes]
rs4543047	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682828	1.00[EUR][1000 genomes]
rs4682832	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682833	1.00[EUR][1000 genomes]
rs4682834	1.00[EUR][1000 genomes]
rs4682835	1.00[EUR][1000 genomes]
rs4682836	1.00[EUR][1000 genomes]
rs4682838	1.00[EUR][1000 genomes]
rs4682841	1.00[EUR][1000 genomes]
rs4682843	1.00[EUR][1000 genomes]
rs4683277	1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683282	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs4683283	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683284	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4683285	1.00[EUR][1000 genomes]
rs4683286	1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	1.00[EUR][1000 genomes]
rs4683290	1.00[EUR][1000 genomes]
rs4683291	1.00[EUR][1000 genomes]
rs4683292	1.00[EUR][1000 genomes]
rs4683293	1.00[EUR][1000 genomes]
rs4858812	1.00[EUR][1000 genomes]
rs6442041	1.00[EUR][1000 genomes]
rs6442042	1.00[EUR][1000 genomes]
rs6442043	1.00[EUR][1000 genomes]
rs6442044	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs6442047	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs6442048	1.00[EUR][1000 genomes]
rs6442062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	1.00[EUR][1000 genomes]
rs648226	1.00[EUR][1000 genomes]
rs6766676	1.00[EUR][1000 genomes]
rs6767868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6768169	1.00[EUR][1000 genomes]
rs6772449	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780994	1.00[EUR][1000 genomes]
rs6785462	1.00[EUR][1000 genomes]
rs6787210	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	1.00[EUR][1000 genomes]
rs6789730	1.00[EUR][1000 genomes]
rs6804732	1.00[EUR][1000 genomes]
rs6806521	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs6808117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6809904	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7372780	1.00[EUR][1000 genomes]
rs73831482	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621530	1.00[EUR][1000 genomes]
rs7624549	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7625011	0.85[YRI][hapmap]
rs7630154	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630904	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7638549	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7639121	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7643181	1.00[AMR][1000 genomes]
rs7643868	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7644043	1.00[EUR][1000 genomes]
rs7644382	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7646076	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7649413	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649941	1.00[EUR][1000 genomes]
rs7650142	1.00[EUR][1000 genomes]
rs7652492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807930	1.00[EUR][1000 genomes]
rs807933	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	1.00[EUR][1000 genomes]
rs900689	1.00[EUR][1000 genomes]
rs900690	1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	1.00[EUR][1000 genomes]
rs900694	1.00[EUR][1000 genomes]
rs903538	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs924009	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936177	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs936178	1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs936181	1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs936182	1.00[EUR][1000 genomes]
rs936185	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936186	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs9810881	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823480	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828124	1.00[EUR][1000 genomes]
rs9828473	0.89[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833500	1.00[EUR][1000 genomes]
rs9852167	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9873037	0.85[AFR][1000 genomes]
rs9878813	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	1.00[EUR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47165800-47197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:47166200-47197200	Weak transcription	Aorta	Aorta
6	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
7	chr3:47166400-47194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:47167400-47202400	Weak transcription	HSMM	muscle
10	chr3:47167800-47195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:47177800-47194200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:47178000-47194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:47182000-47195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:47182600-47200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:47182800-47198200	Weak transcription	Primary B cells from cord blood	blood
17	chr3:47183600-47200800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:47183600-47202200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:47183800-47194200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:47183800-47194400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:47183800-47198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:47183800-47202200	Weak transcription	NHEK	skin
23	chr3:47183800-47203000	Weak transcription	Colonic Mucosa	Colon
24	chr3:47184000-47194200	Weak transcription	Spleen	Spleen
25	chr3:47184000-47197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:47184400-47198400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:47184600-47194200	Weak transcription	Fetal Thymus	thymus
28	chr3:47184600-47194200	Weak transcription	Psoas Muscle	Psoas
29	chr3:47184600-47198000	Weak transcription	Thymus	Thymus
30	chr3:47184600-47202200	Weak transcription	Esophagus	oesophagus
31	chr3:47184800-47194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:47184800-47197000	Weak transcription	Gastric	stomach
33	chr3:47184800-47199600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:47184800-47199800	Weak transcription	Fetal Intestine Small	intestine
35	chr3:47186800-47197000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:47187400-47197200	Weak transcription	Right Atrium	heart
37	chr3:47187800-47195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:47188400-47200800	Weak transcription	Fetal Stomach	stomach
39	chr3:47188600-47202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:47189600-47195400	Enhancers	HepG2	liver
41	chr3:47190000-47196000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:47190000-47200400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:47190200-47195400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:47190200-47195800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:47191200-47194200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:47191200-47194200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:47191200-47194200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:47191200-47194200	Weak transcription	Brain Angular Gyrus	brain
49	chr3:47191200-47194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:47191200-47198000	Weak transcription	Right Ventricle	heart

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