Variant report

Variant	rs1108075
Chromosome Location	chr12:2333671-2333672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:2333540-2333690	GM12875	blood:	n/a	n/a
2	CTCF	chr12:2333600-2333750	HA-sp	spinal cord:	n/a	n/a
3	CTCF	chr12:2333660-2333810	RPTEC	kidney:	n/a	n/a

Variant related genes	Relation type
CACNA1C-AS4	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1006737	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774034	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774035	0.81[ASN][1000 genomes]
rs10848642	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062159	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062161	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062162	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062166	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11062170	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1108073	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108074	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108221	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108222	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315711	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424245	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159100	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2190771	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922316	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765904	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765905	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs758170	0.81[ASN][1000 genomes]
rs769087	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7965923	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2320400-2335800	Weak transcription	NHLF	lung
2	chr12:2323200-2340200	Enhancers	Fetal Heart	heart
3	chr12:2323600-2336000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:2323800-2338800	Weak transcription	Spleen	Spleen
5	chr12:2325800-2334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:2326000-2334600	Weak transcription	Osteobl	bone
7	chr12:2327200-2336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:2328600-2334200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:2329800-2338800	Weak transcription	Right Atrium	heart
10	chr12:2330400-2335000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:2330600-2335400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:2331000-2335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:2332800-2336000	Weak transcription	Right Ventricle	heart
14	chr12:2333200-2333800	Enhancers	Left Ventricle	heart
15	chr12:2333400-2333800	Enhancers	Aorta	Aorta
16	chr12:2333600-2334000	Enhancers	Colon Smooth Muscle	Colon
17	chr12:2333600-2334400	Enhancers	Fetal Lung	lung

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