Variant report

Variant	rs2067683
Chromosome Location	chr7:38918042-38918043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:38910718..38912408-chr7:38917039..38918947,2	MCF-7	breast:
2	chr7:38913005..38915768-chr7:38916494..38919026,3	K562	blood:
3	chr7:38917217..38919932-chr7:38921727..38923559,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10085898	0.82[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs1019065	0.98[ASN][1000 genomes]
rs10229531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242807	0.82[CHB][hapmap]
rs10243110	0.82[CHB][hapmap]
rs10244302	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244901	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245333	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249090	0.86[ASN][1000 genomes]
rs10250120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10252285	0.82[CHB][hapmap]
rs10262154	0.82[CHB][hapmap]
rs10266910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269756	0.98[ASN][1000 genomes]
rs10272658	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10274968	0.81[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.90[ASN][1000 genomes]
rs10279181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279367	0.82[CHB][hapmap];0.86[MEX][hapmap]
rs10279990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280140	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281589	0.82[CHB][hapmap]
rs10281823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951576	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs10951578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773094	0.82[CHB][hapmap]
rs11980197	0.98[ASN][1000 genomes]
rs11980627	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs11983390	0.98[ASN][1000 genomes]
rs12533017	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs12533808	0.86[ASN][1000 genomes]
rs12535711	0.96[ASN][1000 genomes]
rs12672018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228087	0.81[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.96[ASN][1000 genomes]
rs1473138	0.86[ASN][1000 genomes]
rs1473139	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs17618395	0.84[ASN][1000 genomes]
rs17619021	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680408	0.82[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs17680879	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008199	0.92[ASN][1000 genomes]
rs2009277	0.98[ASN][1000 genomes]
rs2072247	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072248	0.82[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs2074853	0.87[ASN][1000 genomes]
rs2159018	0.82[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs2189853	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2286078	0.82[CHB][hapmap]
rs2286107	0.82[CHB][hapmap]
rs2392601	0.86[ASN][1000 genomes]
rs2392602	0.86[ASN][1000 genomes]
rs2392603	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392604	0.81[CEU][hapmap];0.98[ASN][1000 genomes]
rs2392605	0.94[ASN][1000 genomes]
rs2392606	0.94[ASN][1000 genomes]
rs2392607	0.96[ASN][1000 genomes]
rs28369620	0.98[ASN][1000 genomes]
rs28460817	0.96[ASN][1000 genomes]
rs28552512	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893568	0.80[ASN][1000 genomes]
rs3213659	0.82[CHB][hapmap]
rs3735346	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779122	0.82[CHB][hapmap];0.90[ASN][1000 genomes]
rs3779124	0.81[ASN][1000 genomes]
rs3779125	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[ASN][1000 genomes]
rs3779127	0.82[CHB][hapmap]
rs3801111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801114	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801116	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801124	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801126	0.82[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs3801127	0.82[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs3801128	0.90[ASN][1000 genomes]
rs3801132	0.86[ASN][1000 genomes]
rs3801134	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs4623319	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720306	0.83[ASN][1000 genomes]
rs4723791	0.84[ASN][1000 genomes]
rs4723792	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs4723795	0.86[ASN][1000 genomes]
rs4723796	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs4723800	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs56980069	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59626436	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59995998	1.00[ASN][1000 genomes]
rs62443565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443575	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62444126	0.86[ASN][1000 genomes]
rs62444137	0.90[ASN][1000 genomes]
rs62444140	0.90[ASN][1000 genomes]
rs6415270	0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[ASN][1000 genomes]
rs6462868	0.82[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs6462869	0.86[ASN][1000 genomes]
rs6462870	0.86[ASN][1000 genomes]
rs6943746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945239	0.98[ASN][1000 genomes]
rs6946636	0.82[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs6948026	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6955677	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6959858	0.90[ASN][1000 genomes]
rs6960585	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963364	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs6966738	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968196	0.86[ASN][1000 genomes]
rs6969435	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs6973415	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6974795	0.98[ASN][1000 genomes]
rs73123612	0.90[ASN][1000 genomes]
rs73127433	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131153	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776996	0.98[ASN][1000 genomes]
rs7782927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788383	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793692	0.84[CEU][hapmap];0.96[ASN][1000 genomes]
rs7798033	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs7803132	0.82[CHB][hapmap]
rs8180877	0.98[ASN][1000 genomes]
rs917320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917322	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs929422	0.86[ASN][1000 genomes]
rs9639805	0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[ASN][1000 genomes]
rs9655397	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs982392	0.82[CHB][hapmap];0.94[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	nsv887966	chr7:38835035-38933942	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2067683	CCDC32	trans	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38871400-38920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:38873200-38919200	Weak transcription	Pancreas	Pancrea
3	chr7:38879800-38938000	Weak transcription	Right Ventricle	heart
4	chr7:38881200-38919200	Weak transcription	Psoas Muscle	Psoas
5	chr7:38886200-38947800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:38889400-38948200	Weak transcription	Gastric	stomach
7	chr7:38889600-38932600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:38893800-38925600	Weak transcription	Thymus	Thymus
9	chr7:38898400-38920000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:38898600-38928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:38899200-38924200	Weak transcription	Fetal Kidney	kidney
12	chr7:38901800-38920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:38903800-38939600	Weak transcription	A549	lung
14	chr7:38903800-38947000	Weak transcription	Small Intestine	intestine
15	chr7:38905000-38925600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:38905600-38937800	Weak transcription	Colonic Mucosa	Colon
17	chr7:38906000-38920000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:38906000-38947800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:38907800-38919800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:38907800-38922400	Weak transcription	HepG2	liver
21	chr7:38908000-38920000	Weak transcription	Fetal Brain Male	brain
22	chr7:38908000-38941000	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:38908200-38918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:38908200-38918400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:38908200-38918600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:38908200-38919600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:38908200-38919600	Weak transcription	Brain Anterior Caudate	brain
28	chr7:38908200-38920200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:38908200-38920200	Weak transcription	Brain Angular Gyrus	brain
30	chr7:38908200-38924200	Weak transcription	Lung	lung
31	chr7:38908200-38925600	Weak transcription	Fetal Stomach	stomach
32	chr7:38908200-38932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:38908200-38933800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:38908200-38935000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:38908200-38935400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:38908200-38935400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:38908200-38938600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:38908400-38918200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:38908600-38919200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:38908600-38925800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:38908600-38935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:38908800-38918600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:38908800-38919200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:38908800-38919600	Weak transcription	Brain Substantia Nigra	brain
45	chr7:38908800-38920000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:38908800-38920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:38908800-38925000	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:38908800-38925600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:38908800-38925800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:38908800-38932600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links