Variant report

Variant	rs10840109
Chromosome Location	chr11:8704039-8704040
allele	A/G
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	E2F6	chr11:8703467-8704850	A549	lung:	n/a	chr11:8704293-8704302
2	FOXM1	chr11:8703490-8704908	GM12878	blood:	n/a	n/a
3	YY1	chr11:8703943-8704682	ECC-1	luminal epithelium:	n/a	chr11:8704293-8704302
4	FOXP2	chr11:8704006-8704444	SK-N-MC	brain:	n/a	n/a
5	ELF1	chr11:8703928-8704590	HepG2	liver:	n/a	chr11:8704201-8704212
6	PML	chr11:8703295-8705344	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:8703545-8706440	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBL1XR1	chr11:8703814-8705226	K562	blood:	n/a	n/a
9	ZBTB33	chr11:8703662-8704892	SK-N-SH	brain:	n/a	chr11:8704225-8704240 chr11:8704246-8704256
10	MYC	chr11:8704034-8704252	GM12878	blood:	n/a	n/a
11	CTCF	chr11:8704000-8704150	HMF	breast:	n/a	n/a
12	CREB1	chr11:8703928-8704552	A549	lung:	n/a	n/a
13	NFIC	chr11:8704007-8704532	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
15	REST	chr11:8703815-8704788	PFSK-1	brain:	n/a	n/a
16	YY1	chr11:8703756-8704603	GM12891	blood:	n/a	chr11:8704293-8704302
17	POLR2A	chr11:8703829-8704877	HepG2	liver:	n/a	n/a
18	TRIM28	chr11:8703754-8704589	K562	blood:	n/a	n/a
19	CTCF	chr11:8703980-8704130	HAc	cerebellar:	n/a	n/a
20	MXI1	chr11:8703707-8705253	GM12878	blood:	n/a	n/a
21	GABPA	chr11:8703751-8704997	A549	lung:	n/a	chr11:8704293-8704302
22	POLR2A	chr11:8702941-8705349	U87	brain:	n/a	n/a
23	USF2	chr11:8703961-8704942	GM12878	blood:	n/a	chr11:8704782-8704793
24	SPI1	chr11:8703949-8704530	HL-60	blood:	n/a	chr11:8704203-8704212 chr11:8704200-8704213 chr11:8704204-8704211 chr11:8704200-8704213
25	CREB1	chr11:8704020-8704489	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:8703038-8705287	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr11:8703444-8704900	GM12878	blood:	n/a	n/a
29	ZEB1	chr11:8703887-8704614	GM12878	blood:	n/a	n/a
30	MYBL2	chr11:8703655-8704580	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr11:8704037-8704537	PFSK-1	brain:	n/a	n/a
32	REST	chr11:8703906-8704532	SK-N-SH	brain:	n/a	n/a
33	ELF1	chr11:8703973-8704639	MCF-7	breast:	n/a	chr11:8704201-8704212
34	TBP	chr11:8703145-8705218	K562	blood:	n/a	n/a
35	BCL3	chr11:8703845-8705247	A549	lung:	n/a	chr11:8704273-8704282 chr11:8703878-8703891 chr11:8704478-8704491
36	SPI1	chr11:8703881-8704549	HL-60	blood:	n/a	chr11:8704203-8704212 chr11:8704200-8704213 chr11:8704204-8704211 chr11:8704200-8704213
37	GTF2F1	chr11:8703744-8704580	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:8703062-8704534	GM12891	blood:	n/a	n/a
39	HEY1	chr11:8703634-8705468	K562	blood:	n/a	n/a
40	MAX	chr11:8703537-8705234	HepG2	liver:	n/a	n/a
41	MAZ	chr11:8703545-8704689	IMR90	lung:	n/a	n/a
42	RFX5	chr11:8703994-8704478	HepG2	liver:	n/a	n/a
43	BHLHE40	chr11:8703592-8705016	K562	blood:	n/a	n/a
44	RCOR1	chr11:8703876-8704516	GM12878	blood:	n/a	n/a
45	POU2F2	chr11:8703980-8704596	GM12878	blood:	n/a	n/a
46	CTCF	chr11:8703799-8704445	K562	blood:	n/a	n/a
47	ETS1	chr11:8703666-8704439	GM12878	blood:	n/a	chr11:8704203-8704216 chr11:8704269-8704285 chr11:8704273-8704282 chr11:8704313-8704322 chr11:8704274-8704284 chr11:8704201-8704216 chr11:8704205-8704216 chr11:8704273-8704282 chr11:8704273-8704282 chr11:8704204-8704218 chr11:8704273-8704282 chr11:8704273-8704282 chr11:8704273-8704282 chr11:8704273-8704282
48	TAF1	chr11:8703757-8704501	GM12878	blood:	n/a	n/a
49	NR2F2	chr11:8703987-8704442	K562	blood:	n/a	n/a
50	CEBPB	chr11:8703570-8704499	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8703713..8704695-chr7:139025927..139026820,2	Hela-S3	cervix:
2	chr11:8702870..8705880-chr11:8738952..8743089,6	MCF-7	breast:
3	chr11:8638813..8643565-chr11:8702244..8705036,4	K562	blood:
4	chr11:8703166..8704942-chr11:8987139..8989652,2	K562	blood:
5	chr11:8703863..8704578-chr15:40856398..40857346,2	Hela-S3	cervix:
6	chr11:8703694..8704591-chr15:93426286..93427015,2	Hela-S3	cervix:
7	chr11:8703786..8704731-chr9:86594490..86595278,2	Hela-S3	cervix:
8	chr1:45196652..45197174-chr11:8703692..8704363,2	Hela-S3	cervix:
9	chr11:8703906..8704816-chr12:6601962..6602836,2	Hela-S3	cervix:
10	chr11:8701660..8705909-chr11:8738922..8746228,9	MCF-7	breast:
11	chr11:8702288..8704069-chr11:8716251..8718190,2	MCF-7	breast:
12	chr11:8702711..8705833-chr11:8931238..8933056,3	K562	blood:
13	chr11:8703891..8704659-chr8:82597992..82598781,2	NB4	blood:
14	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
15	chr11:8703859..8704715-chr2:101925167..101926061,2	Hela-S3	cervix:
16	chr11:8703730..8704581-chr6:7389553..7390537,2	Hela-S3	cervix:
17	chr11:8703102..8705784-chr11:8929556..8931487,2	MCF-7	breast:
18	chr11:8703415..8704250-chr17:73775496..73776233,2	Hela-S3	cervix:
19	chr11:8703702..8704565-chr14:75745295..75745991,2	Hela-S3	cervix:
20	chr11:8703736..8704640-chr9:139010247..139010974,2	Hela-S3	cervix:
21	chr1:228353325..228354127-chr11:8703719..8704629,3	Hela-S3	cervix:
22	chr11:8703116..8705137-chr11:8986069..8987859,2	K562	blood:
23	chr11:8703341..8705421-chr14:100549196..100551479,2	MCF-7	breast:
24	chr11:8703675..8704260-chr13:37574593..37575136,2	NB4	blood:
25	chr1:45097395..45098344-chr11:8703634..8704499,2	NB4	blood:
26	chr1:45187034..45187714-chr11:8703945..8704531,2	Hela-S3	cervix:
27	chr11:8703710..8704480-chr5:36151851..36152711,2	Hela-S3	cervix:
28	chr11:8699371..8704185-chr11:8984475..8986762,4	K562	blood:
29	chr11:8701293..8704221-chr11:8890079..8892942,2	MCF-7	breast:

Variant related genes	Relation type
SNORA3	TF binding region
SNORA45	TF binding region
RPL27A	TF binding region
ENSG00000187147	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000145604	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000196405	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000238227	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000175348	Chromatin interaction
ENSG00000164304	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000010292	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000264857	Chromatin interaction
ENSG00000166436	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000269955	Chromatin interaction
ENSG00000133731	Chromatin interaction
ENSG00000124784	Chromatin interaction
ENSG00000111639	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000164187	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10840110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270955	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3752849	0.81[ASN][1000 genomes]
rs4670	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6483727	0.86[ASN][1000 genomes]
rs6483729	0.86[ASN][1000 genomes]
rs7933677	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7941844	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8703000-8704600	Active TSS	Duodenum Mucosa	Duodenum
2	chr11:8703000-8705000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:8703000-8705000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:8703000-8705400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:8703200-8704600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:8703200-8704600	Active TSS	Colonic Mucosa	Colon
7	chr11:8703200-8704800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:8703200-8704800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:8703200-8705000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:8703200-8705000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:8703200-8705000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:8703200-8705000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:8703200-8705000	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:8703200-8705000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:8703200-8705200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:8703200-8705200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:8703200-8705600	Active TSS	Right Ventricle	heart
18	chr11:8703200-8705600	Active TSS	GM12878-XiMat	blood
19	chr11:8703200-8705600	Active TSS	HSMMtube	muscle
20	chr11:8703200-8705800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:8703400-8704400	Active TSS	Dnd41	blood
22	chr11:8703400-8704600	Active TSS	A549	lung
23	chr11:8703400-8704800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:8703400-8704800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:8703400-8704800	Active TSS	Brain Substantia Nigra	brain
26	chr11:8703400-8705000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:8703400-8705000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:8703400-8705000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:8703400-8705000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr11:8703400-8705000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:8703400-8705000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:8703400-8705000	Active TSS	Fetal Kidney	kidney
33	chr11:8703400-8705000	Active TSS	Psoas Muscle	Psoas
34	chr11:8703400-8705000	Active TSS	Stomach Mucosa	stomach
35	chr11:8703400-8705200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:8703400-8705200	Active TSS	Fetal Intestine Small	intestine
37	chr11:8703400-8705200	Active TSS	Lung	lung
38	chr11:8703400-8705200	Active TSS	Pancreas	Pancrea
39	chr11:8703400-8705200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:8703400-8705400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:8703400-8705400	Active TSS	Aorta	Aorta
42	chr11:8703400-8705400	Active TSS	Esophagus	oesophagus
43	chr11:8703400-8705600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:8703400-8705600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:8703400-8705600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:8703400-8705600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:8703400-8705600	Active TSS	Fetal Intestine Large	intestine
48	chr11:8703400-8705600	Active TSS	Gastric	stomach
49	chr11:8703400-8705600	Active TSS	Ovary	ovary
50	chr11:8703400-8705600	Active TSS	HSMM	muscle

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