Variant report

Variant	rs3794153
Chromosome Location	chr11:8751889-8751890
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:8751820-8751970	K562	blood:	n/a	n/a
2	CTCF	chr11:8751740-8751890	HBMEC	blood vessel:	n/a	n/a
3	EGR1	chr11:8751656-8751933	K562	blood:	n/a	n/a
4	SMC3	chr11:8751713-8752031	K562	blood:	n/a	n/a
5	HMGN3	chr11:8751657-8751991	K562	blood:	n/a	n/a
6	CTCF	chr11:8751659-8752042	K562	blood:	n/a	n/a
7	CTCF	chr11:8751760-8751910	GM12865	blood:	n/a	n/a
8	CTCF	chr11:8751740-8751890	HFF-Myc	foreskin:	n/a	n/a
9	BHLHE40	chr11:8751793-8751914	K562	blood:	n/a	n/a
10	CTCF	chr11:8751760-8751910	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr11:8751760-8751910	HRPEpiC	eye:	n/a	n/a
12	ZNF143	chr11:8751717-8751966	K562	blood:	n/a	n/a
13	CTCF	chr11:8751760-8751910	GM12872	blood:	n/a	n/a
14	CTCF	chr11:8751820-8751970	GM12872	blood:	n/a	n/a
15	CTCF	chr11:8751780-8751930	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr11:8751780-8751930	AG04449	skin:	n/a	n/a
17	RCOR1	chr11:8751669-8751999	K562	blood:	n/a	n/a
18	CTCF	chr11:8751760-8751910	K562	blood:	n/a	n/a
19	CTCF	chr11:8751800-8751950	GM12868	blood:	n/a	n/a
20	CTCF	chr11:8751820-8751970	HCM	heart:	n/a	n/a
21	CTCF	chr11:8751788-8751918	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELF1	chr11:8751757-8752007	K562	blood:	n/a	n/a
23	CTCF	chr11:8751682-8751979	K562	blood:	n/a	n/a
24	RAD21	chr11:8751722-8752023	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:8751672-8752029	K562	blood:	n/a	n/a
26	RAD21	chr11:8751615-8752092	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:8751740-8751890	HMEC	breast:	n/a	n/a
28	CTCF	chr11:8751840-8751990	NHEK	skin:	n/a	n/a
29	RAD21	chr11:8751769-8751915	K562	blood:	n/a	n/a
30	CTCF	chr11:8751794-8751922	GM13977	blood:	n/a	n/a
31	MYC	chr11:8751765-8751937	K562	blood:	n/a	n/a
32	CTCF	chr11:8751780-8751930	GM12871	blood:	n/a	n/a
33	CTCF	chr11:8751744-8751992	K562	blood:	n/a	n/a
34	CTCF	chr11:8751820-8751970	HCFaa	heart:	n/a	n/a
35	MYC	chr11:8751727-8751990	K562	blood:	n/a	n/a
36	RAD21	chr11:8751704-8751919	K562	blood:	n/a	n/a
37	CTCF	chr11:8751740-8751890	HRPEpiC	eye:	n/a	n/a
38	JUND	chr11:8751742-8751975	K562	blood:	n/a	n/a
39	MAZ	chr11:8751708-8752016	K562	blood:	n/a	n/a
40	ZBTB7A	chr11:8751674-8751942	K562	blood:	n/a	n/a
41	EGR1	chr11:8751620-8751941	K562	blood:	n/a	n/a
42	CTCF	chr11:8751800-8751950	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr11:8751780-8751930	HMF	breast:	n/a	n/a
44	CTCFL	chr11:8751751-8751934	K562	blood:	n/a	n/a
45	CTCF	chr11:8751689-8751938	K562	blood:	n/a	n/a
46	CTCFL	chr11:8751746-8751910	K562	blood:	n/a	n/a
47	CTCF	chr11:8751760-8751910	BJ	skin:	n/a	n/a
48	HCFC1	chr11:8751704-8751904	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8751869..8753571-chr11:8755150..8756715,2	K562	blood:
2	chr11:8711146..8713516-chr11:8750024..8752030,2	K562	blood:
3	chr11:8700027..8703082-chr11:8748797..8752038,3	MCF-7	breast:
4	chr11:8704389..8706036-chr11:8750148..8752543,2	K562	blood:
5	chr11:8750659..8752161-chr11:8770797..8772981,2	MCF-7	breast:
6	chr11:8718053..8720568-chr11:8751828..8753393,2	K562	blood:
7	chr11:8745341..8747316-chr11:8750121..8752572,2	MCF-7	breast:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000254900	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10769947	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10769948	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10769955	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10769957	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10769958	0.92[CEU][hapmap]
rs11042055	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042059	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11042060	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042069	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12224436	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12421789	0.92[CEU][hapmap]
rs2316865	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3763918	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4579928	0.92[CEU][hapmap]
rs4929911	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4929912	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4929914	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs4929916	0.92[CEU][hapmap]
rs6484484	0.92[CEU][hapmap]
rs7107867	0.83[EUR][1000 genomes]
rs7129667	0.83[EUR][1000 genomes]
rs7944560	0.92[CEU][hapmap]
rs905290	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3794153	TMEM9B-AS1	cis	lung	GTEx
rs3794153	TRIM66	cis	lung	GTEx
rs3794153	TMEM9B-AS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8735400-8753400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:8736200-8773800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8742600-8754000	Weak transcription	Hela-S3	cervix
4	chr11:8744000-8752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:8744000-8754200	Weak transcription	A549	lung
6	chr11:8744200-8757600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:8744800-8753000	Weak transcription	Adipose Nuclei	Adipose
8	chr11:8744800-8753400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:8745000-8754400	Weak transcription	Small Intestine	intestine
10	chr11:8745600-8754000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:8746000-8754200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:8746200-8757400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:8746400-8757200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8746600-8757200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:8746600-8783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:8747800-8756400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:8748000-8752000	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:8748800-8753000	Weak transcription	Aorta	Aorta
19	chr11:8748800-8754600	Weak transcription	Fetal Thymus	thymus
20	chr11:8749000-8754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:8749400-8753400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:8749400-8753600	Weak transcription	HUVEC	blood vessel
23	chr11:8749400-8754400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:8749400-8754600	Weak transcription	Fetal Kidney	kidney
25	chr11:8750000-8752800	Strong transcription	Placenta	Placenta
26	chr11:8750000-8753200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:8750200-8752200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:8750200-8752600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:8750200-8753200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:8750200-8753800	Strong transcription	Fetal Intestine Small	intestine
31	chr11:8750400-8752600	Strong transcription	Pancreas	Pancrea
32	chr11:8750400-8752800	Strong transcription	HMEC	breast
33	chr11:8750400-8753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:8750400-8753600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:8750600-8752600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:8750600-8752600	Weak transcription	Brain Germinal Matrix	brain
37	chr11:8750600-8752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:8750600-8753000	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:8750600-8753800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:8750600-8754000	Weak transcription	Psoas Muscle	Psoas
41	chr11:8750800-8752400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:8750800-8752400	Strong transcription	Esophagus	oesophagus
43	chr11:8750800-8752800	Weak transcription	HSMMtube	muscle
44	chr11:8750800-8753400	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:8750800-8760200	Weak transcription	Fetal Brain Male	brain
46	chr11:8751000-8752200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:8751000-8752200	Strong transcription	HSMM	muscle
48	chr11:8751000-8752400	Strong transcription	Left Ventricle	heart
49	chr11:8751000-8752600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:8751000-8752600	Strong transcription	NHDF-Ad	bronchial

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