Variant report

Variant	rs7959385
Chromosome Location	chr12:105720516-105720517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr12:105720468-105721131	GM12878	blood:	n/a	n/a
2	IKZF1	chr12:105720457-105721780	GM12878	blood:	n/a	n/a
3	CTCF	chr12:105720400-105720550	GM12866	blood:	n/a	n/a
4	POLR2A	chr12:105720497-105721103	HUVEC	blood vessel:	n/a	n/a
5	PBX3	chr12:105720464-105721110	SK-N-SH	brain:	n/a	n/a
6	MTA3	chr12:105720427-105721081	GM12878	blood:	n/a	n/a
7	GATA3	chr12:105720453-105721158	SK-N-SH	brain:	n/a	chr12:105720830-105720840
8	NFIC	chr12:105720409-105721840	GM12878	blood:	n/a	n/a
9	EP300	chr12:105720440-105721169	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:105720443-105720883	GM12892	blood:	n/a	n/a
11	TCF12	chr12:105720437-105721201	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:105720493-105720933	GM12892	blood:	n/a	n/a
13	ZNF384	chr12:105720352-105721408	GM12878	blood:	n/a	n/a
14	MAX	chr12:105720454-105721002	NB4	blood:	n/a	n/a
15	TCF12	chr12:105720484-105721198	SK-N-SH	brain:	n/a	n/a
16	RUNX3	chr12:105720454-105721026	GM12878	blood:	n/a	n/a
17	WRNIP1	chr12:105720374-105720574	GM12878	blood:	n/a	n/a
18	RUNX3	chr12:105720301-105721109	GM12878	blood:	n/a	n/a
19	YY1	chr12:105720366-105720604	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105720223..105722150-chr12:105723159..105726102,2	MCF-7	breast:
2	chr12:105712887..105714905-chr12:105718530..105720792,2	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf75	TF binding region
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10861371	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs10861388	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861396	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10861400	1.00[CHB][hapmap]
rs10861407	1.00[CHB][hapmap]
rs10861409	1.00[CHB][hapmap]
rs11112434	1.00[CHB][hapmap]
rs11112461	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112465	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112467	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112468	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112475	1.00[CHB][hapmap]
rs11513891	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11519725	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11613789	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1196742	1.00[ASN][1000 genomes]
rs1196745	1.00[ASN][1000 genomes]
rs1196748	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196749	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196759	1.00[ASN][1000 genomes]
rs1196760	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196765	1.00[ASN][1000 genomes]
rs1196777	1.00[CHB][hapmap]
rs1196793	1.00[CHB][hapmap]
rs1196805	1.00[ASN][1000 genomes]
rs1196806	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196807	1.00[ASN][1000 genomes]
rs1196808	1.00[ASN][1000 genomes]
rs1196813	1.00[CHB][hapmap]
rs1196817	1.00[CHB][hapmap]
rs1196818	1.00[CHB][hapmap]
rs1196819	1.00[CHB][hapmap]
rs1196852	1.00[CHB][hapmap]
rs1196853	1.00[ASN][1000 genomes]
rs1196857	1.00[ASN][1000 genomes]
rs1196859	1.00[ASN][1000 genomes]
rs1196861	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196862	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196864	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1196871	1.00[ASN][1000 genomes]
rs1196874	1.00[ASN][1000 genomes]
rs1206559	1.00[ASN][1000 genomes]
rs1211276	1.00[CHB][hapmap]
rs12822081	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs12822314	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12827086	0.91[EUR][1000 genomes]
rs12828874	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1663564	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2440715	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2440718	1.00[ASN][1000 genomes]
rs2464173	1.00[ASN][1000 genomes]
rs2888846	1.00[CHB][hapmap]
rs35407439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35561158	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4545651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299225	1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs7302174	1.00[CHB][hapmap]
rs7303242	0.94[CEU][hapmap];0.88[GIH][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303307	0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7972400	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7972676	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972982	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs935240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs935241	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs935242	1.00[ASN][1000 genomes]
rs935244	1.00[CHB][hapmap]
rs9645791	1.00[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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7959385	KIAA1033	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
2	chr12:105713800-105723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:105714600-105724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105715800-105723800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:105716000-105723800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:105716400-105723800	Weak transcription	HSMMtube	muscle
7	chr12:105716600-105720600	Weak transcription	Osteobl	bone
8	chr12:105716600-105723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:105716600-105723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105716800-105723600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:105716800-105723800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:105717200-105720600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:105718000-105723800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:105718200-105721000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:105718200-105723800	Weak transcription	Stomach Mucosa	stomach
16	chr12:105719000-105723800	Weak transcription	Fetal Intestine Small	intestine
17	chr12:105719000-105723800	Weak transcription	HSMM	muscle
18	chr12:105719000-105724000	Weak transcription	Thymus	Thymus
19	chr12:105719600-105721200	Enhancers	HMEC	breast
20	chr12:105719800-105721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:105719800-105721400	Enhancers	Dnd41	blood
22	chr12:105719800-105721400	Enhancers	NH-A	brain
23	chr12:105720000-105721200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:105720000-105721200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:105720000-105721800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:105720000-105723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:105720200-105720600	Flanking Active TSS	NHDF-Ad	bronchial
28	chr12:105720200-105720800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:105720200-105721200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:105720400-105720600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:105720400-105720600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:105720400-105721200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:105720400-105721200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:105720400-105721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:105720400-105721200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:105720400-105721200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:105720400-105721200	Enhancers	A549	lung
38	chr12:105720400-105721200	Flanking Active TSS	HUVEC	blood vessel
39	chr12:105720400-105721200	Enhancers	NHEK	skin
40	chr12:105720400-105721200	Enhancers	NHLF	lung
41	chr12:105720400-105721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:105720400-105721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:105720400-105721400	Flanking Active TSS	GM12878-XiMat	blood
44	chr12:105720400-105721800	Enhancers	Primary B cells from peripheral blood	blood
45	chr12:105720400-105723800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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