Variant report

Variant	rs12100912
Chromosome Location	chr14:65716638-65716639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
2	chr14:65707546..65709332-chr14:65714126..65717111,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10149000	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873189	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158584	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431482	0.81[ASN][1000 genomes]
rs12433861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436594	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12436640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256485	0.91[JPT][hapmap];0.88[YRI][hapmap]
rs1256488	1.00[YRI][hapmap]
rs1256489	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1256490	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1256491	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1256493	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs12586596	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12588892	0.80[AFR][1000 genomes]
rs12588894	0.81[AMR][1000 genomes]
rs12588943	0.91[AFR][1000 genomes]
rs1679885	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28850312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28853652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61987801	0.88[ASN][1000 genomes]
rs73276121	0.83[AFR][1000 genomes]
rs73276137	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv976853	chr14:65708032-65723266	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
3	chr14:65710800-65716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:65711200-65717000	Weak transcription	Osteobl	bone
5	chr14:65711200-65719000	Weak transcription	Hela-S3	cervix
6	chr14:65711400-65717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:65711600-65722600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:65712800-65721600	Weak transcription	Primary T cells from cord blood	blood
9	chr14:65713000-65722400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:65713200-65718400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:65713600-65719200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
13	chr14:65716000-65717200	Enhancers	HepG2	liver
14	chr14:65716000-65717600	Enhancers	HUVEC	blood vessel
15	chr14:65716000-65717800	Enhancers	Stomach Mucosa	stomach
16	chr14:65716200-65717000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:65716200-65717000	Enhancers	Brain Anterior Caudate	brain
18	chr14:65716200-65717000	Enhancers	Brain Hippocampus Middle	brain
19	chr14:65716200-65717000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:65716200-65717200	Enhancers	Brain Angular Gyrus	brain
21	chr14:65716200-65717200	Enhancers	Brain Substantia Nigra	brain
22	chr14:65716200-65717200	Enhancers	Gastric	stomach
23	chr14:65716200-65717600	Enhancers	Pancreas	Pancrea
24	chr14:65716200-65719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:65716200-65721800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:65716400-65717000	Enhancers	A549	lung
27	chr14:65716600-65716800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:65716600-65717200	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:65716600-65718200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:65716600-65722000	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links