Variant report

Variant	rs74109780
Chromosome Location	chr12:76034370-76034371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76032457..76035300-chr12:76104195..76106631,2	MCF-7	breast:
2	chr12:76032186..76035156-chr12:76036962..76040307,4	K562	blood:
3	chr12:76033638..76035156-chr12:76038536..76041322,2	K562	blood:
4	chr12:76032058..76036488-chr12:76038031..76041740,5	MCF-7	breast:
5	chr12:76032505..76035383-chr12:76043295..76046760,3	K562	blood:

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

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

rs_ID	r²[population]
rs11366	1.00[AMR][1000 genomes]
rs55838537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55862053	1.00[AMR][1000 genomes]
rs55938346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57417036	1.00[AMR][1000 genomes]
rs57936468	1.00[AMR][1000 genomes]
rs61087380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313298	1.00[AMR][1000 genomes]
rs74108803	1.00[AMR][1000 genomes]
rs74108812	1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	1.00[AMR][1000 genomes]
rs74108833	1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	1.00[AMR][1000 genomes]
rs74108840	1.00[AMR][1000 genomes]
rs74108903	1.00[AMR][1000 genomes]
rs74109586	1.00[AMR][1000 genomes]
rs74109587	1.00[AMR][1000 genomes]
rs74109588	1.00[AMR][1000 genomes]
rs74109589	1.00[AMR][1000 genomes]
rs74109591	1.00[AMR][1000 genomes]
rs74109592	1.00[AMR][1000 genomes]
rs74109593	1.00[AMR][1000 genomes]
rs74109746	1.00[AMR][1000 genomes]
rs74109747	1.00[AMR][1000 genomes]
rs74109748	1.00[AMR][1000 genomes]
rs74109749	1.00[AMR][1000 genomes]
rs74109754	1.00[AMR][1000 genomes]
rs74109755	1.00[AMR][1000 genomes]
rs74109756	1.00[AMR][1000 genomes]
rs74109757	1.00[AMR][1000 genomes]
rs74109762	1.00[AMR][1000 genomes]
rs74109764	1.00[AMR][1000 genomes]
rs74109768	1.00[AMR][1000 genomes]
rs74109770	1.00[AMR][1000 genomes]
rs74109771	1.00[AMR][1000 genomes]
rs74109772	1.00[AMR][1000 genomes]
rs74109773	1.00[AMR][1000 genomes]
rs74109774	1.00[AMR][1000 genomes]
rs74109776	1.00[AMR][1000 genomes]
rs74109781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109784	0.88[AFR][1000 genomes]
rs74109785	1.00[AMR][1000 genomes]
rs74109786	1.00[AMR][1000 genomes]
rs74109787	1.00[AMR][1000 genomes]
rs74109789	1.00[AMR][1000 genomes]
rs74109790	1.00[AMR][1000 genomes]
rs74110939	1.00[AMR][1000 genomes]
rs74110940	1.00[AMR][1000 genomes]
rs74110945	1.00[AMR][1000 genomes]
rs74110966	1.00[AMR][1000 genomes]
rs74110967	1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	1.00[AMR][1000 genomes]
rs74112439	1.00[AMR][1000 genomes]
rs74112440	1.00[AMR][1000 genomes]
rs74112441	1.00[AMR][1000 genomes]
rs74112442	1.00[AMR][1000 genomes]
rs74112443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112444	1.00[AMR][1000 genomes]
rs74112446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954292	1.00[AMR][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76026600-76035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:76029400-76034400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:76030000-76034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:76030000-76034600	Weak transcription	K562	blood
5	chr12:76030200-76034600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:76030200-76034600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:76030200-76034600	Weak transcription	HSMM	muscle
8	chr12:76030200-76034600	Weak transcription	HSMMtube	muscle
9	chr12:76030400-76034800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:76030400-76034800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:76030400-76035200	Weak transcription	NHLF	lung
12	chr12:76030600-76034400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:76030600-76034800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:76030800-76034400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:76030800-76034600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:76031000-76034400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:76031000-76034400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:76031000-76034400	Weak transcription	NHDF-Ad	bronchial
19	chr12:76031000-76034600	Weak transcription	NH-A	brain
20	chr12:76031000-76034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:76031000-76034800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:76032000-76035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:76032400-76036800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:76032400-76037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:76032600-76036800	Enhancers	HMEC	breast
26	chr12:76032800-76036600	Enhancers	NHEK	skin
27	chr12:76033200-76035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:76033200-76035600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:76033200-76035600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:76033600-76036400	Enhancers	Dnd41	blood
31	chr12:76033800-76035400	Weak transcription	Esophagus	oesophagus
32	chr12:76034000-76034600	Enhancers	GM12878-XiMat	blood
33	chr12:76034000-76036400	Enhancers	A549	lung
34	chr12:76034200-76034800	Enhancers	Osteobl	bone
35	chr12:76034200-76035600	Enhancers	HepG2	liver
36	chr12:76034200-76036600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:76034200-76036800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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