Variant report

Variant	rs12435921
Chromosome Location	chr14:56617859-56617860
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	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11158078	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624380	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626451	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12884292	1.00[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs35421243	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783664	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12435921	MMP7	trans	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56611400-56620000	Enhancers	Colon Smooth Muscle	Colon
2	chr14:56612200-56618000	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:56613200-56620000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:56613400-56620000	Weak transcription	HUVEC	blood vessel
5	chr14:56613600-56619800	Enhancers	Fetal Brain Male	brain
6	chr14:56613800-56618200	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:56613800-56619400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:56614200-56618800	Enhancers	Primary T cells from cord blood	blood
9	chr14:56614600-56618400	Flanking Active TSS	Dnd41	blood
10	chr14:56614600-56619000	Enhancers	Fetal Thymus	thymus
11	chr14:56614800-56618000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:56614800-56618000	Enhancers	Brain Germinal Matrix	brain
13	chr14:56614800-56618400	Enhancers	Thymus	Thymus
14	chr14:56615000-56620000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:56615400-56618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:56615400-56618800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:56615400-56626800	Weak transcription	Left Ventricle	heart
18	chr14:56615600-56621000	Weak transcription	Small Intestine	intestine
19	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:56615800-56618800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:56615800-56619000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:56615800-56623200	Weak transcription	Spleen	Spleen
23	chr14:56615800-56625800	Weak transcription	Lung	lung
24	chr14:56615800-56626800	Weak transcription	Stomach Mucosa	stomach
25	chr14:56616000-56618200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:56616000-56625800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:56616200-56619000	Weak transcription	Fetal Intestine Small	intestine
28	chr14:56616200-56621000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:56616200-56621200	Weak transcription	Aorta	Aorta
30	chr14:56616200-56626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:56616800-56618000	Enhancers	Brain Hippocampus Middle	brain
32	chr14:56616800-56619000	Enhancers	Pancreas	Pancrea
33	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
34	chr14:56617000-56618800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:56617000-56618800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:56617200-56620200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:56617200-56627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:56617400-56618200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:56617400-56618400	Enhancers	Ovary	ovary
40	chr14:56617600-56618000	Weak transcription	Gastric	stomach
41	chr14:56617600-56618600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:56617600-56619800	Enhancers	Fetal Brain Female	brain
43	chr14:56617600-56623000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:56617800-56618400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:56617800-56618400	Enhancers	GM12878-XiMat	blood
46	chr14:56617800-56618800	Enhancers	Esophagus	oesophagus
47	chr14:56617800-56619800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:56617800-56620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:56617800-56623000	Weak transcription	Fetal Lung	lung

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