Variant report

Variant	rs11942335
Chromosome Location	chr4:15696749-15696750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15690443..15693747-chr4:15694264..15697002,4	MCF-7	breast:
2	chr4:15694240..15696950-chr4:15697578..15699264,2	K562	blood:
3	chr4:15695760..15698048-chr4:15975957..15978418,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10003739	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10008875	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10008889	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10012838	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10017295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022610	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10025837	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10026851	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10030313	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031017	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10034328	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10939628	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11932730	0.87[EUR][1000 genomes]
rs11933521	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11939541	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11943107	0.87[EUR][1000 genomes]
rs11945626	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12503015	0.82[EUR][1000 genomes]
rs12509029	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12640192	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12644327	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12645849	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13116304	0.87[EUR][1000 genomes]
rs13121363	0.87[EUR][1000 genomes]
rs1473166	0.85[EUR][1000 genomes]
rs16892140	0.85[EUR][1000 genomes]
rs16892152	0.87[EUR][1000 genomes]
rs2041671	0.87[EUR][1000 genomes]
rs2160044	0.87[EUR][1000 genomes]
rs28419165	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28522268	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28528670	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28534607	0.87[EUR][1000 genomes]
rs28661857	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3822298	0.86[EUR][1000 genomes]
rs4235380	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280723	0.87[EUR][1000 genomes]
rs4280724	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4393989	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4583752	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591601	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4642244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698117	0.83[ASN][1000 genomes]
rs4698403	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4698405	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4698408	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56041141	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57526178	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60040560	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60813847	0.85[EUR][1000 genomes]
rs62290605	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6449149	0.87[EUR][1000 genomes]
rs6831286	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6839438	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73125606	0.85[EUR][1000 genomes]
rs73127647	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7377825	0.80[AFR][1000 genomes]
rs741180	0.87[EUR][1000 genomes]
rs7661102	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7665390	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7665915	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7682586	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7687010	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs872678	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15684000-15697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
3	chr4:15684800-15704400	Weak transcription	Aorta	Aorta
4	chr4:15686600-15704400	Weak transcription	Thymus	Thymus
5	chr4:15687200-15701200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:15687600-15696800	Weak transcription	Fetal Stomach	stomach
7	chr4:15687600-15697000	Weak transcription	Esophagus	oesophagus
8	chr4:15688400-15697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:15688400-15703800	Weak transcription	Fetal Kidney	kidney
10	chr4:15689600-15697200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:15690600-15697800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:15691000-15697000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:15691000-15698600	Weak transcription	Dnd41	blood
14	chr4:15691400-15697200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:15691400-15698400	Weak transcription	Primary T cells from cord blood	blood
16	chr4:15691400-15698400	Weak transcription	Liver	Liver
17	chr4:15691400-15704000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:15691400-15704200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:15692200-15704000	Weak transcription	Brain Germinal Matrix	brain
20	chr4:15692600-15697000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:15692800-15696800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:15692800-15696800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:15693200-15696800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:15693200-15696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:15693200-15701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:15693400-15697000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:15693400-15702800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:15693600-15698800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:15693600-15701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:15693800-15697000	Weak transcription	HSMMtube	muscle
31	chr4:15694000-15696800	Weak transcription	HUVEC	blood vessel
32	chr4:15694200-15697000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:15694200-15699000	Weak transcription	Primary B cells from cord blood	blood
34	chr4:15694800-15696800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:15694800-15703800	Weak transcription	Brain Substantia Nigra	brain
36	chr4:15695400-15699400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:15695600-15697200	Enhancers	NH-A	brain
38	chr4:15695600-15697800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:15695600-15697800	Enhancers	NHEK	skin
40	chr4:15695800-15697000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:15695800-15697000	Enhancers	Stomach Mucosa	stomach
42	chr4:15695800-15697600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:15695800-15697800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:15695800-15697800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:15695800-15697800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr4:15695800-15697800	Enhancers	HMEC	breast
47	chr4:15696000-15697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:15696000-15697000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:15696000-15697600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:15696200-15697000	Enhancers	Osteobl	bone

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