Variant report

Variant	rs11030781
Chromosome Location	chr11:4083258-4083259
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	chr11:4082609..4084818-chr11:4091785..4094735,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1013351	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10500590	0.94[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]
rs10767702	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10767715	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10767767	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.80[ASN][1000 genomes]
rs10767811	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835311	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835331	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835333	0.81[TSI][hapmap]
rs10835337	0.90[TSI][hapmap]
rs10835340	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]
rs10835399	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10835402	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835403	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10835406	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835407	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs10835474	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10835508	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10835521	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10835540	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835545	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835554	0.88[ASN][1000 genomes]
rs10835556	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835557	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835561	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835596	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835597	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835611	0.86[CHB][hapmap]
rs11030276	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11030404	0.83[GIH][hapmap];0.90[TSI][hapmap]
rs11030579	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11030580	0.82[ASN][1000 genomes]
rs11030599	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11030627	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11030631	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11030639	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030660	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030918	0.87[CHD][hapmap];0.89[GIH][hapmap];0.81[ASN][1000 genomes]
rs11031110	0.85[CHB][hapmap]
rs11493482	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12223176	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12281293	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs12286710	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs1349583	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1442726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1452047	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs17081	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs17279635	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2119987	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28419002	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898947	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3817657	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs4910590	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910596	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910597	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910598	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910866	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4910868	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4910869	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs4910875	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910877	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6578424	0.90[TSI][hapmap]
rs67065286	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102215	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7128762	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7129444	0.87[GIH][hapmap]
rs7130580	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs714380	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720571	0.82[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs750525	0.81[TSI][hapmap]
rs7924984	0.83[GIH][hapmap];0.90[TSI][hapmap]
rs7932702	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs7935824	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7940013	0.82[CHD][hapmap]
rs7950153	0.94[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs963998	0.91[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];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs995498	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]

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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11030781	ABCC3	trans	parietal	SCAN
rs11030781	RRM1	cis	Artery Tibial	GTEx
rs11030781	OR52M1	cis	cerebellum	SCAN
rs11030781	RRM1	cis	cerebellum	SCAN
rs11030781	RRM1	cis	parietal	SCAN
rs11030781	CD81	cis	parietal	SCAN
rs11030781	STIM1	cis	Thyroid	GTEx
rs11030781	C11orf35	cis	parietal	SCAN
rs11030781	TRIM21	cis	cerebellum	SCAN
rs11030781	ANO9	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4066600-4085800	Weak transcription	Pancreas	Pancrea
4	chr11:4067000-4087400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:4067800-4093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:4070800-4108600	Weak transcription	HSMM	muscle
7	chr11:4071000-4083600	Weak transcription	Fetal Brain Male	brain
8	chr11:4073000-4093200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:4076000-4087000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
11	chr11:4076600-4085200	Strong transcription	Dnd41	blood
12	chr11:4078000-4093200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:4078800-4084400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:4079000-4093000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
16	chr11:4079200-4085200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:4079400-4085600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:4079400-4085800	Weak transcription	Fetal Heart	heart
19	chr11:4079600-4083400	Strong transcription	Fetal Thymus	thymus
20	chr11:4079600-4083800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:4079600-4087200	Weak transcription	NH-A	brain
22	chr11:4079800-4084600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:4079800-4085800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:4079800-4093200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:4080000-4084400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:4080000-4086200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:4080200-4083400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:4080200-4083400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:4080200-4083600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:4080200-4088000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:4080400-4083400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr11:4080400-4083400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:4080400-4083400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:4080400-4085400	Strong transcription	Primary B cells from cord blood	blood
35	chr11:4080400-4087800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr11:4080600-4084200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:4080800-4084200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:4081000-4085800	Weak transcription	Right Ventricle	heart
39	chr11:4081000-4089800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:4081000-4090000	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:4081000-4090000	Weak transcription	Esophagus	oesophagus
42	chr11:4081000-4101800	Weak transcription	Lung	lung
43	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
44	chr11:4081200-4093000	Weak transcription	Fetal Kidney	kidney
45	chr11:4081200-4095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:4081400-4095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:4081600-4085600	Weak transcription	Gastric	stomach
48	chr11:4081600-4086000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:4081600-4086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:4081600-4092800	Weak transcription	Fetal Stomach	stomach

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