Variant report

Variant	rs7963934
Chromosome Location	chr12:48477086-48477087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48466511..48469101-chr12:48476522..48478242,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1018973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs10492080	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10783231	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10783232	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10875742	0.88[ASN][1000 genomes]
rs11168451	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs11168455	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11609399	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11612578	0.93[CEU][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs11612970	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11613485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613781	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12580764	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581972	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822085	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1476608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17122565	0.95[JPT][hapmap]
rs17122611	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17122612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17122613	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17122651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859441	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs1859444	0.81[CEU][hapmap]
rs1968071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1990029	0.81[EUR][1000 genomes]
rs2286022	0.84[EUR][1000 genomes]
rs3742074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075913	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4141065	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4293182	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4589362	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760611	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs4760614	0.89[EUR][1000 genomes]
rs4760615	0.87[EUR][1000 genomes]
rs4760618	0.84[EUR][1000 genomes]
rs4760620	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4760677	0.89[EUR][1000 genomes]
rs4760683	0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4760685	1.00[JPT][hapmap]
rs4760692	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4760698	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs57054831	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57380031	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57655233	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58046797	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58331734	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59766465	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60567660	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60629297	0.84[EUR][1000 genomes]
rs60681522	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580647	0.82[EUR][1000 genomes]
rs6580651	0.89[EUR][1000 genomes]
rs6580656	0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs6580660	1.00[JPT][hapmap]
rs7133249	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726354	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72644841	0.85[EUR][1000 genomes]
rs72644842	0.89[EUR][1000 genomes]
rs72644843	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72644844	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72644845	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72644846	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72644847	0.92[EUR][1000 genomes]
rs7296913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305954	0.81[EUR][1000 genomes]
rs7310579	0.87[EUR][1000 genomes]
rs7312326	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315258	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7485057	1.00[JPT][hapmap]
rs7485824	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs757556	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7957764	0.87[EUR][1000 genomes]
rs7959755	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[EUR][1000 genomes]
rs7967762	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs7969749	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7971668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs879242	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs901964	0.81[JPT][hapmap]
rs9651993	0.81[EUR][1000 genomes]
rs9805048	0.81[EUR][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7963934	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
4	chr12:48443000-48478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:48454000-48494000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:48454600-48478800	Weak transcription	Pancreas	Pancrea
8	chr12:48457400-48482000	Weak transcription	Right Ventricle	heart
9	chr12:48457600-48478600	Weak transcription	HSMMtube	muscle
10	chr12:48459200-48479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:48464600-48489400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:48464800-48482400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:48465000-48478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:48465000-48478800	Weak transcription	Aorta	Aorta
15	chr12:48465000-48487400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:48466200-48481400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:48466800-48478800	Weak transcription	Esophagus	oesophagus
18	chr12:48468200-48478800	Weak transcription	HepG2	liver
19	chr12:48468400-48478600	Weak transcription	Colonic Mucosa	Colon
20	chr12:48468400-48478800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:48468400-48481400	Weak transcription	NHDF-Ad	bronchial
22	chr12:48468400-48482200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:48468400-48482200	Weak transcription	Brain Substantia Nigra	brain
24	chr12:48468600-48498400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:48468800-48478800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:48468800-48482800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:48468800-48498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:48470200-48497600	Weak transcription	Fetal Heart	heart
29	chr12:48470800-48492800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:48471400-48477400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:48471400-48492000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:48471800-48477800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:48472200-48489400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:48472400-48492000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:48472600-48477200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:48472600-48477200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:48472600-48486400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:48472600-48490200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:48472600-48490200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:48472600-48493600	Strong transcription	Fetal Thymus	thymus
41	chr12:48472800-48483200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48472800-48493800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:48473000-48477200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:48473000-48494800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:48473200-48478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:48473200-48482600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:48473200-48486200	Strong transcription	Placenta	Placenta
48	chr12:48473200-48492000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:48473600-48477800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:48473600-48490000	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links