Variant report

Variant	rs2510967
Chromosome Location	chr11:77563787-77563788
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10698394	0.90[EUR][1000 genomes]
rs10793262	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10793263	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10793264	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899398	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10899402	0.90[EUR][1000 genomes]
rs10899403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs10899405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10899406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10899407	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10899408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10899409	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11237284	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11237289	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11237295	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11237299	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11237303	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11518811	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12222530	0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs12364072	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12794428	0.83[EUR][1000 genomes]
rs1613945	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783546	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790235	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790240	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790246	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790250	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap]
rs1793334	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1793336	0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1793341	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1793343	0.81[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2034499	0.85[CHB][hapmap];0.87[YRI][hapmap]
rs2212317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2276441	0.82[CHB][hapmap]
rs2298819	0.88[EUR][1000 genomes]
rs3018164	0.80[AMR][1000 genomes]
rs3018415	0.82[ASN][1000 genomes]
rs4245453	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4638330	0.81[EUR][1000 genomes]
rs4945198	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4945201	0.85[EUR][1000 genomes]
rs4945206	0.90[EUR][1000 genomes]
rs496786	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs574665	0.88[EUR][1000 genomes]
rs61900164	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs630711	0.80[CHB][hapmap]
rs672460	0.85[CEU][hapmap]
rs7110670	0.85[CHB][hapmap]
rs7110924	0.90[EUR][1000 genomes]
rs7128224	0.82[EUR][1000 genomes]
rs7130719	0.83[EUR][1000 genomes]
rs7358471	0.96[EUR][1000 genomes]
rs7925343	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7927913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7931272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7938133	0.85[CHB][hapmap]
rs7938648	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs7940734	0.82[EUR][1000 genomes]
rs9666484	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9988883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2510967	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77533400-77565600	Weak transcription	Gastric	stomach
2	chr11:77533400-77565600	Weak transcription	Pancreas	Pancrea
3	chr11:77535400-77565600	Weak transcription	HepG2	liver
4	chr11:77544600-77564400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:77544600-77565400	Weak transcription	Spleen	Spleen
6	chr11:77544800-77564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:77544800-77565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:77547200-77565800	Weak transcription	Fetal Heart	heart
9	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:77550000-77565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:77550800-77564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:77550800-77565400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:77551400-77565400	Weak transcription	Fetal Thymus	thymus
14	chr11:77552200-77565800	Weak transcription	NHLF	lung
15	chr11:77552600-77564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:77552600-77565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:77552600-77565400	Weak transcription	Thymus	Thymus
18	chr11:77553000-77565000	Weak transcription	Right Ventricle	heart
19	chr11:77553000-77565600	Weak transcription	Aorta	Aorta
20	chr11:77553200-77565600	Weak transcription	Psoas Muscle	Psoas
21	chr11:77553800-77565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:77554000-77565400	Weak transcription	NH-A	brain
23	chr11:77554000-77565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:77554800-77565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:77555000-77564400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:77555200-77565400	Weak transcription	Brain Angular Gyrus	brain
27	chr11:77555200-77565600	Weak transcription	Primary B cells from cord blood	blood
28	chr11:77555600-77564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:77555800-77564400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:77555800-77565400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:77555800-77565400	Weak transcription	Lung	lung
32	chr11:77555800-77565600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:77556000-77565600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:77556200-77564000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:77556200-77565400	Weak transcription	Placenta	Placenta
36	chr11:77556200-77565600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:77556200-77565600	Weak transcription	Fetal Brain Male	brain
38	chr11:77556200-77565600	Weak transcription	Fetal Kidney	kidney
39	chr11:77556400-77565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:77556400-77565400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:77556400-77565600	Weak transcription	HSMM	muscle
42	chr11:77556600-77564400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:77556600-77564400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:77556600-77565400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:77556600-77565400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:77556600-77565600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:77556600-77565600	Weak transcription	HSMMtube	muscle
48	chr11:77556600-77566000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:77556800-77564600	Weak transcription	Brain Germinal Matrix	brain
50	chr11:77556800-77565400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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