Variant report

Variant	rs4763833
Chromosome Location	chr12:12639809-12639810
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	chr12:12639514..12642208-chr12:12655232..12658211,2	MCF-7	breast:
2	chr12:12634486..12639853-chr12:12714024..12717789,5	K562	blood:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10743988	0.88[ASN][1000 genomes]
rs10772570	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10845552	0.91[CHB][hapmap];0.91[MEX][hapmap]
rs10845559	0.83[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.91[ASN][1000 genomes]
rs10845560	0.88[ASW][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs10845567	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10845568	0.85[CEU][hapmap]
rs10845572	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11054937	0.89[ASN][1000 genomes]
rs11054940	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11054941	0.88[ASW][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs11054942	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11054947	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11613385	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12422540	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs1558822	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041927	0.88[CEU][hapmap]
rs2111271	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2417190	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815591	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4255620	0.89[ASN][1000 genomes]
rs4763832	0.87[ASN][1000 genomes]
rs7137455	0.94[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7294378	0.89[ASN][1000 genomes]
rs7295305	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295427	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7308097	0.94[LWK][hapmap];0.83[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs7310652	0.89[ASN][1000 genomes]
rs7972902	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs933575	1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.91[ASN][1000 genomes]
rs962928	0.88[ASW][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4763833	ATF7IP	cis	cerebellum	SCAN
rs4763833	LOH12CR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
2	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
3	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
4	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
5	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
7	chr12:12626800-12640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:12627400-12640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:12627600-12640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:12627600-12642400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:12627800-12646200	Weak transcription	Fetal Brain Male	brain
13	chr12:12628600-12647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:12628800-12655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:12630600-12641200	Weak transcription	HSMM	muscle
16	chr12:12630600-12661200	Weak transcription	NHEK	skin
17	chr12:12630800-12640000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:12630800-12640800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:12630800-12640800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:12630800-12641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:12630800-12655800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:12630800-12658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
25	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
26	chr12:12631000-12645200	Weak transcription	Gastric	stomach
27	chr12:12631400-12641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:12632800-12658200	Weak transcription	Ovary	ovary
29	chr12:12633000-12640800	Weak transcription	A549	lung
30	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
31	chr12:12633400-12648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:12633600-12641400	Weak transcription	Osteobl	bone
33	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
34	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
35	chr12:12635000-12641200	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:12635000-12647400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:12635400-12640000	Strong transcription	Fetal Stomach	stomach
38	chr12:12635600-12640400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:12635600-12644600	Weak transcription	K562	blood
40	chr12:12636000-12645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:12636000-12653400	Weak transcription	Right Ventricle	heart
42	chr12:12636200-12655800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:12636600-12646200	Weak transcription	Primary B cells from cord blood	blood
44	chr12:12636800-12640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:12636800-12645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:12636800-12645600	Weak transcription	Spleen	Spleen
47	chr12:12636800-12647400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:12636800-12656800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:12637200-12644600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:12637200-12651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links