Variant report

Variant	rs10473048
Chromosome Location	chr5:37496790-37496791
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	chr5:37496762..37498368-chr5:37500019..37501730,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10037573	0.81[AFR][1000 genomes]
rs10039671	0.86[YRI][hapmap]
rs10045274	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs10045656	1.00[ASW][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap]
rs10057125	0.89[AMR][1000 genomes]
rs10057617	1.00[YRI][hapmap]
rs10058348	1.00[MEX][hapmap]
rs10061422	0.89[YRI][hapmap]
rs10063753	0.86[YRI][hapmap]
rs10066898	0.89[AMR][1000 genomes]
rs10070546	0.89[AMR][1000 genomes]
rs10071032	1.00[MEX][hapmap]
rs10076738	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10078741	1.00[MEX][hapmap]
rs10223294	1.00[YRI][hapmap]
rs10473046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10491332	1.00[MEX][hapmap]
rs11951437	0.88[AFR][1000 genomes]
rs11954775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11955258	1.00[MEX][hapmap]
rs12109225	1.00[MEX][hapmap]
rs12110216	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13357561	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs13360130	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28445341	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6863547	1.00[MEX][hapmap]
rs6874531	1.00[YRI][hapmap]
rs6876447	1.00[MEX][hapmap]
rs6898271	1.00[MEX][hapmap]
rs6898900	1.00[MEX][hapmap]
rs7708708	1.00[MEX][hapmap]
rs7710547	1.00[MEX][hapmap]
rs7710582	1.00[ASW][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7711785	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7730242	1.00[MEX][hapmap]
rs9292655	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9292657	0.82[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking 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	45 gene(s)	inside rSNPs	diseases
6	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1015514	chr5:37409579-37522074	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv1018722	chr5:37438609-37507131	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv880327	chr5:37443079-37567267	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv1030223	chr5:37463746-37514800	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv1033104	chr5:37463746-37555317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37476600-37513200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:37477000-37504400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:37478400-37502800	Weak transcription	Psoas Muscle	Psoas
4	chr5:37478600-37502600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:37480600-37510800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:37481600-37519200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:37481800-37496800	Weak transcription	Aorta	Aorta
8	chr5:37481800-37499000	Weak transcription	HepG2	liver
9	chr5:37481800-37500400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:37481800-37501400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:37481800-37503200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:37481800-37503200	Weak transcription	Fetal Brain Male	brain
13	chr5:37481800-37507400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:37481800-37519400	Weak transcription	Pancreas	Pancrea
15	chr5:37481800-37521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:37482000-37500000	Weak transcription	Fetal Kidney	kidney
17	chr5:37482200-37518400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:37482200-37519200	Weak transcription	Placenta	Placenta
19	chr5:37482600-37507000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:37482800-37498200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:37483000-37497000	Weak transcription	Fetal Brain Female	brain
22	chr5:37483000-37498400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:37483000-37498800	Weak transcription	Adipose Nuclei	Adipose
24	chr5:37483000-37521400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:37483000-37525400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:37483200-37519600	Weak transcription	Left Ventricle	heart
27	chr5:37488200-37498200	Weak transcription	Fetal Lung	lung
28	chr5:37488200-37518400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:37488200-37519200	Weak transcription	Ovary	ovary
30	chr5:37488400-37496800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:37488600-37498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:37488600-37501400	Weak transcription	K562	blood
33	chr5:37488600-37520200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:37489200-37518400	Weak transcription	Dnd41	blood
36	chr5:37489400-37498200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:37489400-37499800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:37489600-37511800	Weak transcription	GM12878-XiMat	blood
39	chr5:37489600-37519400	Weak transcription	Spleen	Spleen
40	chr5:37489600-37521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:37489800-37496800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:37489800-37498800	Weak transcription	Fetal Intestine Large	intestine
43	chr5:37490600-37498000	Weak transcription	Right Ventricle	heart
44	chr5:37490800-37502800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:37491000-37498600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:37491000-37518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:37491000-37519200	Weak transcription	Thymus	Thymus
48	chr5:37491200-37499000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:37491200-37503600	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:37491200-37519200	Weak transcription	Lung	lung

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