Variant report

Variant	rs60017851
Chromosome Location	chr3:47150716-47150717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47150626..47153559-chr3:47155579..47157656,2	K562	blood:
2	chr3:47150417..47152283-chr3:47160822..47163333,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs55633581	1.00[AMR][1000 genomes]
rs55646108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs55832326	1.00[AMR][1000 genomes]
rs56329054	1.00[AMR][1000 genomes]
rs56401311	1.00[AMR][1000 genomes]
rs57114752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57341796	1.00[AMR][1000 genomes]
rs58040348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529346	1.00[AMR][1000 genomes]
rs58558054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60054745	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs60444519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	1.00[AMR][1000 genomes]
rs73831421	1.00[AMR][1000 genomes]
rs73831424	1.00[AMR][1000 genomes]
rs73831425	1.00[AMR][1000 genomes]
rs73831428	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]
rs73831492	1.00[AMR][1000 genomes]
rs73831493	1.00[AMR][1000 genomes]
rs73831496	1.00[AMR][1000 genomes]
rs73831497	1.00[AMR][1000 genomes]
rs73831501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834305	1.00[AMR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47112400-47153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:47123000-47159200	Weak transcription	Brain Substantia Nigra	brain
3	chr3:47124600-47154400	Weak transcription	Fetal Brain Male	brain
4	chr3:47125600-47154600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:47125800-47153600	Weak transcription	Esophagus	oesophagus
6	chr3:47125800-47154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:47125800-47154600	Weak transcription	Gastric	stomach
8	chr3:47125800-47155000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:47126000-47153600	Weak transcription	Aorta	Aorta
10	chr3:47126400-47159800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:47135000-47158800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:47139200-47154000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:47139600-47153400	Weak transcription	Pancreas	Pancrea
15	chr3:47139600-47154600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:47139600-47161800	Weak transcription	Fetal Brain Female	brain
17	chr3:47139800-47153000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:47139800-47154200	Weak transcription	Colonic Mucosa	Colon
19	chr3:47139800-47163200	Weak transcription	A549	lung
20	chr3:47140000-47175600	Weak transcription	Small Intestine	intestine
21	chr3:47140600-47159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:47141200-47155000	Weak transcription	HMEC	breast
23	chr3:47141200-47155200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:47143600-47152400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:47143800-47153000	Weak transcription	Fetal Kidney	kidney
26	chr3:47143800-47154600	Weak transcription	Fetal Heart	heart
27	chr3:47144000-47153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:47144000-47153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:47144000-47154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:47144000-47154600	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:47144000-47154600	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:47144200-47155000	Weak transcription	Right Ventricle	heart
33	chr3:47144200-47170800	Weak transcription	Brain Angular Gyrus	brain
34	chr3:47144400-47152200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:47145000-47152600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:47145000-47155000	Strong transcription	GM12878-XiMat	blood
37	chr3:47145200-47154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:47145600-47153600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:47145600-47155800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:47145800-47175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:47146200-47154600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:47146400-47151600	Weak transcription	HepG2	liver
43	chr3:47146400-47164600	Weak transcription	Psoas Muscle	Psoas
44	chr3:47146600-47150800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:47146600-47153000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:47147400-47154600	Weak transcription	Lung	lung
47	chr3:47147600-47150800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:47147600-47151800	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:47147600-47152200	Weak transcription	Fetal Intestine Large	intestine
50	chr3:47147600-47152200	Weak transcription	Rectal Mucosa Donor 29	rectum

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