Variant report

Variant	rs11020803
Chromosome Location	chr11:94227670-94227671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:94226435-94227680	HL-60	blood:	n/a	n/a
2	ZNF143	chr11:94226488-94227700	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr11:94226575-94227772	K562	blood:	n/a	n/a
4	HCFC1	chr11:94225753-94227860	Hela-S3	cervix:	n/a	n/a
5	REST	chr11:94226293-94227954	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:94226303-94227756	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr11:94225680-94228468	SK-N-SH	brain:	n/a	chr11:94226554-94226563
8	BRCA1	chr11:94226214-94228062	Hela-S3	cervix:	n/a	chr11:94227016-94227025
9	ZNF384	chr11:94226783-94227677	K562	blood:	n/a	n/a
10	SP1	chr11:94226403-94227800	H1-hESC	embryonic stem cell:	n/a	chr11:94226743-94226755 chr11:94227088-94227100 chr11:94227113-94227127 chr11:94227113-94227123 chr11:94227085-94227099 chr11:94227088-94227099 chr11:94227090-94227099 chr11:94227112-94227124 chr11:94226743-94226755 chr11:94227089-94227098 chr11:94227113-94227122 chr11:94227055-94227076 chr11:94226745-94226754 chr11:94227090-94227099 chr11:94227112-94227124 chr11:94227439-94227453 chr11:94227114-94227123 chr11:94227112-94227123
11	POLR2A	chr11:94226409-94227785	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:94226703-94227841	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:94226434-94227729	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:94226413-94228015	IMR90	lung:	n/a	n/a
15	CHD2	chr11:94226427-94227776	H1-hESC	embryonic stem cell:	n/a	chr11:94227016-94227025
16	SMC3	chr11:94226374-94227712	GM12878	blood:	n/a	chr11:94227414-94227421 chr11:94226585-94226593
17	POLR2A	chr11:94226350-94227821	GM12878	blood:	n/a	n/a
18	MTA3	chr11:94226216-94227863	GM12878	blood:	n/a	n/a
19	ATF2	chr11:94227299-94227715	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr11:94226242-94227690	HCT-116	colon:	n/a	n/a
21	ELF1	chr11:94226494-94227720	GM12878	blood:	n/a	chr11:94227159-94227168 chr11:94227158-94227169 chr11:94227158-94227169
22	POLR2A	chr11:94226428-94228927	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:94226413-94227670	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr11:94226411-94227812	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:94226499-94227840	PBDE	blood:	n/a	n/a
26	POLR2A	chr11:94226396-94227676	Hela-S3	cervix:	n/a	n/a
27	ELF1	chr11:94226438-94227774	HCT-116	colon:	n/a	chr11:94227159-94227168 chr11:94227158-94227169 chr11:94227158-94227169
28	POLR2A	chr11:94226449-94227758	GM12892	blood:	n/a	n/a
29	EP300	chr11:94226911-94227728	GM12878	blood:	n/a	chr11:94227158-94227172 chr11:94227161-94227168
30	POLR2A	chr11:94226375-94227714	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr11:94226306-94227671	GM12878	blood:	n/a	chr11:94227016-94227025
32	ELF1	chr11:94226578-94227686	GM12878	blood:	n/a	chr11:94227159-94227168 chr11:94227158-94227169 chr11:94227158-94227169
33	MYC	chr11:94226263-94227742	H1-hESC	embryonic stem cell:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226551-94226561 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
34	MYC	chr11:94226334-94227777	K562	blood:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226551-94226561 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
35	SIN3A	chr11:94226290-94227861	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr11:94226098-94227929	IMR90	lung:	n/a	chr11:94226554-94226563
37	POLR2A	chr11:94226295-94227817	GM12891	blood:	n/a	n/a
38	ARID3A	chr11:94226621-94227809	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:94226390-94227694	HepG2	liver:	n/a	n/a
40	MAX	chr11:94226399-94227719	GM12878	blood:	n/a	chr11:94226548-94226567 chr11:94226552-94226562 chr11:94226551-94226561 chr11:94226552-94226563 chr11:94226553-94226562 chr11:94226553-94226563 chr11:94226549-94226564 chr11:94227113-94227123 chr11:94226554-94226563 chr11:94226552-94226563 chr11:94226552-94226563 chr11:94226551-94226564 chr11:94226553-94226560 chr11:94226551-94226564 chr11:94227087-94227097 chr11:94226552-94226561
41	RFX5	chr11:94226175-94227819	Hela-S3	cervix:	n/a	chr11:94227065-94227074 chr11:94227803-94227811
42	CTCF	chr11:94227520-94227670	NHLF	lung:	n/a	n/a
43	POLR2A	chr11:94226000-94227721	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:
2	chr11:94225979..94229384-chr11:94230397..94235421,9	K562	blood:
3	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
4	chr11:94180184..94182302-chr11:94227182..94229296,2	K562	blood:
5	chr11:94226137..94228706-chr11:94300541..94302920,2	K562	blood:
6	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
7	chr11:93914625..93916953-chr11:94227203..94228744,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD49	TF binding region
MRE11A	TF binding region
ENSG00000196371	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000110218	Chromatin interaction
ENSG00000134627	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap]
rs10831225	1.00[CEU][hapmap];0.83[CHD][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11020802	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12224966	1.00[CEU][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1257769	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1272743	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508784	0.81[CEU][hapmap]
rs3017077	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs472344	0.80[CEU][hapmap]
rs473297	0.81[CEU][hapmap]
rs474577	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs497763	0.84[CEU][hapmap]
rs500558	0.80[CEU][hapmap]
rs509723	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs509744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs512150	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs518640	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs521349	0.92[CEU][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs521669	0.94[YRI][hapmap]
rs522596	0.93[YRI][hapmap]
rs525057	0.80[CEU][hapmap]
rs525921	0.80[CEU][hapmap]
rs529126	0.83[CHB][hapmap]
rs530569	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs535801	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540199	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540514	0.83[YRI][hapmap]
rs550255	0.86[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56108804	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs563807	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs581002	0.83[YRI][hapmap]
rs584707	0.94[YRI][hapmap]
rs588701	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs592068	0.81[CHB][hapmap]
rs59678918	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs603937	0.85[CHB][hapmap];0.93[YRI][hapmap]
rs607974	0.83[YRI][hapmap]
rs610899	0.80[CEU][hapmap]
rs625245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs639311	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs641936	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6483341	0.81[CEU][hapmap]
rs654718	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs657249	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs663530	0.93[YRI][hapmap]
rs680695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs682213	0.81[CEU][hapmap]
rs684507	0.81[CEU][hapmap]
rs695093	0.80[CEU][hapmap]
rs948575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv1794580	chr11:94224060-94227993	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv1796910	chr11:94224060-94227993	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv1796644	chr11:94226595-94227670	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs11020803	RP11-685N10.1	cis	lung	GTEx
rs11020803	RP11-685N10.1	cis	Stomach	GTEx
rs11020803	MRE11A	cis	cerebellum	SCAN
rs11020803	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs11020803	MAML2	cis	cerebellum	SCAN
rs11020803	MRE11A	cis	Heart Left Ventricle	GTEx
rs11020803	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs11020803	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs11020803	RP11-685N10.1	cis	Artery Aorta	GTEx
rs11020803	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs11020803	MRE11A	cis	Artery Aorta	GTEx
rs11020803	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs11020803	MRE11A	cis	parietal	SCAN
rs11020803	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs11020803	MRE11A	cis	Adipose Subcutaneous	GTEx
rs11020803	MRE11A	cis	Esophagus Mucosa	GTEx
rs11020803	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs11020803	MRE11A	cis	Stomach	GTEx
rs11020803	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs11020803	MAML2	cis	parietal	SCAN
rs11020803	RP11-685N10.1	cis	Thyroid	GTEx
rs11020803	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11020803	RP11-685N10.1	cis	Artery Tibial	GTEx
rs11020803	MRE11A	cis	Whole Blood	GTEx
rs11020803	MRE11A	cis	lung	GTEx
rs11020803	MRE11A	cis	Thyroid	GTEx
rs11020803	MRE11A	cis	Esophagus Muscularis	GTEx
rs11020803	MRE11A	cis	Nerve Tibial	GTEx
rs11020803	MRE11A	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94225400-94228200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:94225600-94228000	Active TSS	GM12878-XiMat	blood
3	chr11:94225600-94228000	Active TSS	K562	blood
4	chr11:94225600-94228200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:94225600-94228200	Active TSS	A549	lung
6	chr11:94225600-94228600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:94225800-94227800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:94225800-94228000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:94225800-94228000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:94225800-94228000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:94225800-94228000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:94225800-94228000	Active TSS	Hela-S3	cervix
13	chr11:94225800-94228200	Active TSS	Right Atrium	heart
14	chr11:94225800-94228400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:94226000-94227800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:94226000-94227800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:94226000-94227800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:94226000-94227800	Active TSS	Colonic Mucosa	Colon
19	chr11:94226000-94227800	Active TSS	Fetal Intestine Large	intestine
20	chr11:94226000-94227800	Active TSS	Fetal Muscle Trunk	muscle
21	chr11:94226000-94227800	Active TSS	Ovary	ovary
22	chr11:94226000-94228000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:94226000-94228000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:94226000-94228000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:94226000-94228000	Active TSS	Fetal Thymus	thymus
26	chr11:94226000-94228000	Active TSS	Stomach Mucosa	stomach
27	chr11:94226000-94228200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:94226000-94228200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:94226000-94228200	Active TSS	NHLF	lung
30	chr11:94226000-94228400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:94226000-94228400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:94226200-94227800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:94226200-94227800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:94226200-94227800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:94226200-94227800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:94226200-94227800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:94226200-94227800	Active TSS	Aorta	Aorta
38	chr11:94226200-94227800	Active TSS	Placenta	Placenta
39	chr11:94226200-94227800	Active TSS	Right Ventricle	heart
40	chr11:94226200-94228000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:94226200-94228000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:94226200-94228000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:94226200-94228000	Active TSS	Primary T cells fromperipheralblood	blood
44	chr11:94226200-94228000	Active TSS	Fetal Intestine Small	intestine
45	chr11:94226200-94228000	Active TSS	Fetal Kidney	kidney
46	chr11:94226200-94228000	Active TSS	Psoas Muscle	Psoas
47	chr11:94226200-94228000	Active TSS	HSMM	muscle
48	chr11:94226200-94228000	Active TSS	NHDF-Ad	bronchial
49	chr11:94226200-94228000	Active TSS	NHEK	skin
50	chr11:94226200-94228200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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