Variant report

Variant	rs12330516
Chromosome Location	chr3:47153909-47153910
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47151756..47154654-chr3:47157875..47159694,2	K562	blood:
2	chr3:47148587..47150185-chr3:47152146..47155145,2	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs1024036	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1038393	1.00[EUR][1000 genomes]
rs10461017	1.00[EUR][1000 genomes]
rs10461019	1.00[EUR][1000 genomes]
rs10865945	1.00[AMR][1000 genomes];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[EUR][1000 genomes]
rs11709693	1.00[EUR][1000 genomes]
rs11709876	1.00[EUR][1000 genomes]
rs11713537	1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631730	0.85[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	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1378818	1.00[EUR][1000 genomes]
rs1463394	1.00[EUR][1000 genomes]
rs1466272	1.00[EUR][1000 genomes]
rs1466273	1.00[EUR][1000 genomes]
rs1473382	1.00[EUR][1000 genomes]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[EUR][1000 genomes]
rs1563431	1.00[EUR][1000 genomes]
rs1563432	1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	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	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[EUR][1000 genomes]
rs28735306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295431	1.00[EUR][1000 genomes]
rs295432	1.00[EUR][1000 genomes]
rs295434	1.00[EUR][1000 genomes]
rs295443	0.83[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	1.00[EUR][1000 genomes]
rs295450	1.00[EUR][1000 genomes]
rs295451	1.00[EUR][1000 genomes]
rs295453	1.00[EUR][1000 genomes]
rs295454	1.00[EUR][1000 genomes]
rs295455	1.00[EUR][1000 genomes]
rs295456	1.00[EUR][1000 genomes]
rs295457	1.00[EUR][1000 genomes]
rs295459	1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282092	1.00[EUR][1000 genomes]
rs4289375	1.00[EUR][1000 genomes]
rs4324490	1.00[EUR][1000 genomes]
rs4373094	1.00[EUR][1000 genomes]
rs4378998	1.00[EUR][1000 genomes]
rs4389512	1.00[EUR][1000 genomes]
rs4450857	1.00[EUR][1000 genomes]
rs4478107	0.85[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	1.00[EUR][1000 genomes]
rs4682828	1.00[EUR][1000 genomes]
rs4682832	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]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[EUR][1000 genomes]
rs4683277	1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683283	1.00[EUR][1000 genomes]
rs4683284	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]
rs4683303	1.00[EUR][1000 genomes]
rs6442041	1.00[EUR][1000 genomes]
rs6442042	1.00[EUR][1000 genomes]
rs6442043	1.00[EUR][1000 genomes]
rs6442044	1.00[EUR][1000 genomes]
rs6442047	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]
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	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6778673	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.93[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	0.93[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	1.00[EUR][1000 genomes]
rs6804732	1.00[EUR][1000 genomes]
rs6806521	1.00[EUR][1000 genomes]
rs6808052	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	1.00[EUR][1000 genomes]
rs73831482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7621530	1.00[EUR][1000 genomes]
rs7624549	1.00[EUR][1000 genomes]
rs7630154	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630904	1.00[EUR][1000 genomes]
rs7638549	1.00[EUR][1000 genomes]
rs7639121	0.92[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	1.00[EUR][1000 genomes]
rs7644382	0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7646076	1.00[EUR][1000 genomes]
rs7649413	0.85[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]
rs900694	1.00[EUR][1000 genomes]
rs903538	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs924009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936173	1.00[EUR][1000 genomes]
rs936177	1.00[EUR][1000 genomes]
rs936178	1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	1.00[EUR][1000 genomes]
rs936181	1.00[EUR][1000 genomes]
rs936182	1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs9810881	1.00[EUR][1000 genomes]
rs9812407	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9827293	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828124	1.00[EUR][1000 genomes]
rs9828473	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833500	1.00[EUR][1000 genomes]
rs9836801	1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]
rs9852167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9878813	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9883152	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47123000-47159200	Weak transcription	Brain Substantia Nigra	brain
2	chr3:47124600-47154400	Weak transcription	Fetal Brain Male	brain
3	chr3:47125600-47154600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:47125800-47154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47125800-47154600	Weak transcription	Gastric	stomach
6	chr3:47125800-47155000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr3:47126400-47159800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:47135000-47158800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:47139200-47154000	Weak transcription	Brain Anterior Caudate	brain
11	chr3:47139600-47154600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:47139600-47161800	Weak transcription	Fetal Brain Female	brain
13	chr3:47139800-47154200	Weak transcription	Colonic Mucosa	Colon
14	chr3:47139800-47163200	Weak transcription	A549	lung
15	chr3:47140000-47175600	Weak transcription	Small Intestine	intestine
16	chr3:47140600-47159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:47141200-47155000	Weak transcription	HMEC	breast
18	chr3:47141200-47155200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:47143800-47154600	Weak transcription	Fetal Heart	heart
20	chr3:47144000-47154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:47144000-47154600	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:47144000-47154600	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:47144200-47155000	Weak transcription	Right Ventricle	heart
24	chr3:47144200-47170800	Weak transcription	Brain Angular Gyrus	brain
25	chr3:47145000-47155000	Strong transcription	GM12878-XiMat	blood
26	chr3:47145200-47154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:47145600-47155800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:47145800-47175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:47146200-47154600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:47146400-47164600	Weak transcription	Psoas Muscle	Psoas
31	chr3:47147400-47154600	Weak transcription	Lung	lung
32	chr3:47147800-47154200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:47149000-47157600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:47149200-47154600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:47149200-47157600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:47149200-47159000	Strong transcription	Fetal Thymus	thymus
37	chr3:47149600-47160000	Strong transcription	Liver	Liver
38	chr3:47149800-47155600	Strong transcription	Thymus	Thymus
39	chr3:47149800-47156800	Strong transcription	K562	blood
40	chr3:47149800-47159600	Strong transcription	Dnd41	blood
41	chr3:47150000-47158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:47150000-47158800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:47150200-47158600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:47150200-47158600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:47150200-47158800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:47150400-47158600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:47150400-47158800	Strong transcription	Adipose Nuclei	Adipose
48	chr3:47150600-47155000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:47150600-47160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:47150800-47154200	Weak transcription	NHLF	lung

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