Variant report

Variant	rs10840111
Chromosome Location	chr11:8709551-8709552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8708423-8711051	MCF-7	breast:	n/a	n/a
2	GABPA	chr11:8709534-8711165	HL-60	blood:	n/a	n/a
3	MYBL2	chr11:8709487-8711156	HepG2	liver:	n/a	n/a
4	ZMIZ1	chr11:8709433-8709724	K562	blood:	n/a	n/a
5	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
6	SIX5	chr11:8709323-8711065	A549	lung:	n/a	n/a
7	PML	chr11:8709351-8711109	K562	blood:	n/a	n/a
8	ATF2	chr11:8709373-8711093	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:8709385-8712824	K562	blood:	n/a	n/a
10	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
11	SPI1	chr11:8709432-8709916	HL-60	blood:	n/a	n/a
12	PBX3	chr11:8709430-8710978	A549	lung:	n/a	n/a
13	TAF7	chr11:8709522-8709783	K562	blood:	n/a	n/a
14	GABPA	chr11:8709423-8711086	SK-N-SH	brain:	n/a	n/a
15	ELF1	chr11:8709488-8709777	HepG2	liver:	n/a	n/a
16	ELF1	chr11:8709443-8710968	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:8707941-8711031	HCT-116	colon:	n/a	n/a
18	ZBTB33	chr11:8709386-8710949	A549	lung:	n/a	n/a
19	HEY1	chr11:8709407-8710941	K562	blood:	n/a	n/a
20	YY1	chr11:8709497-8710858	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr11:8709544-8711094	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:8709263-8711112	GM12878	blood:	n/a	n/a
23	MAZ	chr11:8709387-8711004	IMR90	lung:	n/a	n/a
24	POLR2A	chr11:8707894-8712756	Hela-S3	cervix:	n/a	n/a
25	KAP1	chr11:8709489-8711132	HEK293	kidney:	n/a	n/a
26	MTA3	chr11:8709361-8711017	GM12878	blood:	n/a	n/a
27	PML	chr11:8707938-8711395	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr11:8709429-8709695	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
30	SPI1	chr11:8709462-8709775	GM12878	blood:	n/a	n/a
31	UBTF	chr11:8709450-8710975	K562	blood:	n/a	n/a
32	JUND	chr11:8709385-8711035	SK-N-SH	brain:	n/a	n/a
33	PBX3	chr11:8709391-8711014	SK-N-SH	brain:	n/a	n/a
34	CEBPD	chr11:8709532-8710961	K562	blood:	n/a	n/a
35	JUND	chr11:8709428-8710848	A549	lung:	n/a	n/a
36	TBL1XR1	chr11:8709507-8710968	K562	blood:	n/a	n/a
37	POLR2A	chr11:8708308-8711028	K562	blood:	n/a	n/a
38	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:8707866-8711917	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT5A	chr11:8709394-8710984	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:8708688-8711061	Raji	blood:	n/a	n/a
44	POLR2A	chr11:8708316-8711063	GM19099	blood:	n/a	n/a
45	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
46	GATA3	chr11:8709435-8711114	A549	lung:	n/a	n/a
47	STAT5A	chr11:8709354-8711059	GM12878	blood:	n/a	n/a
48	FOSL2	chr11:8709428-8711034	A549	lung:	n/a	n/a
49	YY1	chr11:8709504-8710837	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:8708278-8711226	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8709152..8712798-chr11:8746110..8748956,4	MCF-7	breast:
2	chr11:8708851..8710617-chr11:8748312..8750777,3	K562	blood:
3	chr11:8708222..8712147-chr11:8785051..8789387,4	MCF-7	breast:
4	chr11:8708277..8712745-chr11:8814108..8817920,5	MCF-7	breast:
5	chr11:8708558..8712875-chr11:8739230..8741866,3	K562	blood:
6	chr11:8707490..8709770-chr11:8761383..8763513,3	K562	blood:
7	chr11:8709096..8712017-chr11:9482712..9485056,2	K562	blood:
8	chr11:8680378..8682293-chr11:8708475..8710469,2	MCF-7	breast:
9	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
10	chr11:8708263..8710064-chr11:8790794..8793308,2	MCF-7	breast:
11	chr11:8709479..8712307-chr11:8712972..8716902,4	MCF-7	breast:
12	chr11:8709205..8712397-chr11:8778361..8782089,3	MCF-7	breast:
13	chr11:8709340..8711728-chr11:8931222..8932960,2	MCF-7	breast:
14	chr11:8639153..8644664-chr11:8708674..8711558,4	K562	blood:
15	chr11:8708369..8710243-chr11:8992642..8995400,2	K562	blood:
16	chr11:8656504..8659058-chr11:8708189..8710580,2	K562	blood:
17	chr11:8670735..8672985-chr11:8708630..8710565,2	K562	blood:
18	chr11:8708284..8710316-chr11:8838549..8840292,2	MCF-7	breast:
19	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
20	chr11:8708821..8711720-chr11:8797773..8800794,3	MCF-7	breast:
21	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:
22	chr11:8708115..8711236-chr11:8740398..8742559,3	MCF-7	breast:
23	chr11:8709091..8710608-chr11:8985124..8987307,2	MCF-7	breast:
24	chr11:8709503..8714356-chr11:8719036..8721571,6	MCF-7	breast:
25	chr11:8669571..8671256-chr11:8708730..8710584,2	MCF-7	breast:
26	chr11:8709428..8711935-chr11:8797742..8799466,2	K562	blood:
27	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL27A	TF binding region
ENSG00000254860	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000254665	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000166436	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11042036	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042038	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2073685	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270958	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35330493	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35957960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4929908	0.87[LWK][hapmap];1.00[YRI][hapmap]
rs4929930	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6735	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67701052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7945657	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10840111	STK33	cis	cerebellum	SCAN
rs10840111	SNORA45	cis	parietal	SCAN
rs10840111	AMPD3	cis	parietal	SCAN
rs10840111	TRIM66	cis	cerebellum	SCAN
rs10840111	PARVA	cis	cerebellum	SCAN
rs10840111	MGC10850	Cis_1M	lymphoblastoid	RTeQTL
rs10840111	SNORA45	cis	cerebellum	SCAN
rs10840111	RPL27A	cis	cerebellum	SCAN
rs10840111	RPL27A	cis	parietal	SCAN
rs10840111	TRIM66	cis	Heart Left Ventricle	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8705400-8709800	Weak transcription	Aorta	Aorta
2	chr11:8706000-8709600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:8706000-8709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:8706000-8709600	Weak transcription	Right Atrium	heart
5	chr11:8706200-8709600	Strong transcription	Brain Germinal Matrix	brain
6	chr11:8707000-8709600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:8707000-8709600	Genic enhancers	Osteobl	bone
8	chr11:8707400-8709600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:8707400-8709600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:8707600-8709600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:8707600-8709600	Weak transcription	Gastric	stomach
12	chr11:8707600-8709800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:8707600-8710000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:8707600-8710000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:8707800-8709600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:8708000-8709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:8708000-8709600	Weak transcription	Thymus	Thymus
18	chr11:8708000-8710000	Weak transcription	Ovary	ovary
19	chr11:8708200-8709600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:8708200-8709600	Weak transcription	Esophagus	oesophagus
21	chr11:8708200-8709800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:8708400-8709600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:8708400-8709600	Enhancers	Stomach Mucosa	stomach
24	chr11:8708600-8709600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:8708600-8709600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:8708600-8709600	Weak transcription	Adipose Nuclei	Adipose
27	chr11:8708600-8709600	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:8708600-8709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:8708800-8709600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:8708800-8709600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:8708800-8709600	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr11:8708800-8709600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:8708800-8709600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:8708800-8709600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:8708800-8709600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:8708800-8709600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:8708800-8709600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:8708800-8709600	Weak transcription	Brain Substantia Nigra	brain
39	chr11:8708800-8709600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:8708800-8709600	Weak transcription	Fetal Brain Female	brain
41	chr11:8708800-8709600	Weak transcription	Fetal Kidney	kidney
42	chr11:8708800-8709600	Weak transcription	Fetal Lung	lung
43	chr11:8708800-8709600	Weak transcription	Left Ventricle	heart
44	chr11:8708800-8709600	Weak transcription	Pancreas	Pancrea
45	chr11:8708800-8709600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:8708800-8709600	Weak transcription	Small Intestine	intestine
47	chr11:8708800-8709600	Weak transcription	HMEC	breast
48	chr11:8708800-8709600	Strong transcription	NHDF-Ad	bronchial
49	chr11:8708800-8709600	Weak transcription	NHLF	lung
50	chr11:8708800-8710000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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