Variant report

Variant	rs510305
Chromosome Location	chr11:107205371-107205372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1046094	0.85[LWK][hapmap]
rs10749896	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs10749899	0.81[AFR][1000 genomes]
rs10749900	0.86[AFR][1000 genomes]
rs10749901	0.88[AFR][1000 genomes]
rs10789604	0.83[AFR][1000 genomes]
rs10789605	0.87[AFR][1000 genomes]
rs10789606	0.87[AFR][1000 genomes]
rs10789607	0.84[AFR][1000 genomes]
rs10789608	0.84[AFR][1000 genomes]
rs10789611	0.88[AFR][1000 genomes]
rs10789612	0.88[AFR][1000 genomes]
rs10789613	0.88[AFR][1000 genomes]
rs10789614	0.82[AFR][1000 genomes]
rs10789615	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs10789616	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs10789617	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs10789618	0.91[LWK][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs10890694	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890705	0.88[AFR][1000 genomes]
rs10890707	0.88[AFR][1000 genomes]
rs10890708	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs10890709	0.88[AFR][1000 genomes]
rs10890712	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs10890715	0.86[AFR][1000 genomes]
rs10890716	0.88[AFR][1000 genomes]
rs11212137	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212153	0.88[AFR][1000 genomes]
rs11212156	0.88[AFR][1000 genomes]
rs11212157	0.88[AFR][1000 genomes]
rs11212162	0.88[AFR][1000 genomes]
rs11212207	0.85[LWK][hapmap]
rs12146472	0.88[AFR][1000 genomes]
rs12146473	0.88[AFR][1000 genomes]
rs12270655	0.88[AFR][1000 genomes]
rs12286342	0.86[AFR][1000 genomes]
rs12286915	0.85[LWK][hapmap]
rs1242141	0.81[EUR][1000 genomes]
rs1490946	0.88[AFR][1000 genomes]
rs1602396	0.93[ASN][1000 genomes]
rs1844	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2042535	0.85[CEU][hapmap];0.81[GIH][hapmap]
rs2046903	0.88[AFR][1000 genomes]
rs2081450	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2432864	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3758911	0.85[LWK][hapmap]
rs4387327	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs472626	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs474290	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4753800	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4754222	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs477991	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs487984	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs500616	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs503045	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs506308	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510279	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs513717	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs516540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs517240	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs520203	0.96[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs520729	0.85[CEU][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs542041	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs555566	0.80[EUR][1000 genomes]
rs555570	0.83[ASN][1000 genomes]
rs55837508	0.88[AFR][1000 genomes]
rs565344	0.96[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs573449	0.87[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs580431	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs582646	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs582763	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs583631	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs587618	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs594432	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs594876	1.00[CEU][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600431	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs601626	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs611029	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs614594	1.00[CEU][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs620347	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs621312	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs626363	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs628970	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs630782	0.93[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];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631063	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6421541	0.85[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs654129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657958	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6588959	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs660962	0.96[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs670949	0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs673092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675046	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs680648	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7926163	0.91[JPT][hapmap]
rs7943667	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898364	chr11:106944975-107285636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv898374	chr11:107156880-107263130	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv556280	chr11:107158740-107231605	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv556281	chr11:107197869-107240802	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs510305	CUL5	cis	parietal	SCAN
rs510305	CWF19L2	cis	cerebellum	SCAN
rs510305	CWF19L2	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107169400-107230000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:107173600-107231400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:107179200-107229800	Weak transcription	Psoas Muscle	Psoas
4	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
6	chr11:107189800-107206200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:107190000-107223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:107191200-107205800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:107191600-107208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:107192000-107224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:107192200-107205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:107192200-107207400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:107192200-107208200	Weak transcription	Spleen	Spleen
14	chr11:107192200-107223800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:107192200-107225600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:107192200-107229000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:107192200-107232200	Weak transcription	Esophagus	oesophagus
18	chr11:107192400-107214600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:107192600-107207400	Weak transcription	Colonic Mucosa	Colon
20	chr11:107193800-107209600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:107193800-107229800	Weak transcription	Right Ventricle	heart
22	chr11:107193800-107237200	Weak transcription	Gastric	stomach
23	chr11:107194200-107205400	Weak transcription	HepG2	liver
24	chr11:107194200-107213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:107194400-107206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:107194600-107208200	Weak transcription	Lung	lung
27	chr11:107194600-107208800	Weak transcription	GM12878-XiMat	blood
28	chr11:107194600-107221200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:107194600-107235600	Weak transcription	Aorta	Aorta
30	chr11:107194800-107214800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:107194800-107221000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:107194800-107221600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:107194800-107223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:107194800-107224000	Weak transcription	Small Intestine	intestine
35	chr11:107195000-107205800	Weak transcription	HUVEC	blood vessel
36	chr11:107195000-107223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:107195200-107206800	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:107195200-107215200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:107195200-107222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:107195200-107224000	Weak transcription	Thymus	Thymus
42	chr11:107195200-107225800	Weak transcription	HSMM	muscle
43	chr11:107195200-107233000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:107195600-107218800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:107195800-107220000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:107197000-107228200	Weak transcription	Fetal Stomach	stomach
47	chr11:107197600-107214800	Weak transcription	Fetal Lung	lung
48	chr11:107197800-107213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:107197800-107215200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:107197800-107218800	Weak transcription	Duodenum Mucosa	Duodenum

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