Variant report

Variant	rs6735
Chromosome Location	chr11:8707233-8707234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
2	CEBPB	chr11:8707070-8707272	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:8706202-8707850	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:8706441-8707805	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:8706479-8707278	HCT-116	colon:	n/a	n/a
7	SP1	chr11:8707145-8707529	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:8703029-8707716	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:8706827-8708212	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:8703285-8707865	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr11:8707107-8707359	T-47D	breast:	n/a	n/a
16	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:8703029-8712154	K562	blood:	n/a	n/a
18	POLR2A	chr11:8700848-8711808	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:8706460-8711304	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:8706525-8707986	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:8706411-8711893	K562	blood:	n/a	n/a
22	POLR2A	chr11:8707004-8707355	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:8706483-8711750	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:8702994-8711864	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:8706753-8708241	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:8706483-8707450	K562	blood:	n/a	n/a
27	POLR2A	chr11:8706453-8707305	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:8703232-8707460	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:8705414-8707577	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr11:8706371-8707330	U87	brain:	n/a	n/a
31	POLR2A	chr11:8706474-8707580	K562	blood:	n/a	n/a
32	POLR2A	chr11:8703054-8712257	K562	blood:	n/a	n/a
33	POLR2A	chr11:8706423-8707341	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:8706802-8707764	GM12891	blood:	n/a	n/a
35	HEY1	chr11:8706619-8710923	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:8703012-8711042	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr11:8702942-8711199	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:8706969-8707811	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr11:8703025-8711602	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:8703209-8716167	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:8702918-8712569	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:8703187-8707886	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:8703068-8711848	K562	blood:	n/a	n/a
44	POLR2A	chr11:8701867-8711080	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr11:8703152-8711654	K562	blood:	n/a	n/a
46	POLR2A	chr11:8706470-8718381	A549	lung:	n/a	n/a
47	GATA3	chr11:8707163-8707410	T-47D	breast:	n/a	n/a
48	REST	chr11:8707168-8707464	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:8702953-8712699	GM12892	blood:	n/a	n/a
50	POLR2A	chr11:8702915-8712598	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8706918..8709095-chr11:8891415..8893255,2	MCF-7	breast:
2	chr11:8706214..8708044-chr11:8804494..8806612,2	MCF-7	breast:
3	chr11:8705138..8707621-chr11:8984474..8986069,2	K562	blood:

No data

Variant related genes	Relation type
RPL27A	TF binding region
ENSG00000255159	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10840111	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042036	0.95[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];0.95[ASN][1000 genomes]
rs2073685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2270958	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35330493	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35957960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4929930	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67701052	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7945657	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975880	chr11:8705923-8707423	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6735	MGC10850	Cis_1M	lymphoblastoid	RTeQTL
rs6735	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	chr11:8704600-8707600	Transcr. at gene 5' and 3'	A549	lung
2	chr11:8704800-8707800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:8704800-8709200	Transcr. at gene 5' and 3'	K562	blood
4	chr11:8705000-8707400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
5	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
7	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:8705000-8707600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:8705400-8709800	Weak transcription	Aorta	Aorta
11	chr11:8705600-8707400	Transcr. at gene 5' and 3'	NH-A	brain
12	chr11:8705600-8708000	Genic enhancers	Thymus	Thymus
13	chr11:8705600-8709000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr11:8705800-8707600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:8705800-8707600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
16	chr11:8705800-8709200	Transcr. at gene 5' and 3'	Hela-S3	cervix
17	chr11:8706000-8707400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:8706000-8707400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr11:8706000-8708000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:8706000-8708000	Strong transcription	Ovary	ovary
21	chr11:8706000-8708200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:8706000-8708200	Strong transcription	Esophagus	oesophagus
23	chr11:8706000-8708600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr11:8706000-8708600	Strong transcription	Left Ventricle	heart
25	chr11:8706000-8708600	Strong transcription	Spleen	Spleen
26	chr11:8706000-8708800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:8706000-8708800	Strong transcription	Fetal Brain Female	brain
28	chr11:8706000-8708800	Strong transcription	Lung	lung
29	chr11:8706000-8708800	Strong transcription	Pancreas	Pancrea
30	chr11:8706000-8709000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:8706000-8709000	Strong transcription	Fetal Stomach	stomach
32	chr11:8706000-8709200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:8706000-8709400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:8706000-8709600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:8706000-8709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:8706000-8709600	Weak transcription	Right Atrium	heart
37	chr11:8706200-8707400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:8706200-8707400	Strong transcription	Fetal Brain Male	brain
39	chr11:8706200-8708000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:8706200-8708000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr11:8706200-8708200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:8706200-8708600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:8706200-8708600	Strong transcription	Adipose Nuclei	Adipose
44	chr11:8706200-8708600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:8706200-8708800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr11:8706200-8708800	Strong transcription	Brain Substantia Nigra	brain
47	chr11:8706200-8708800	Strong transcription	Fetal Thymus	thymus
48	chr11:8706200-8708800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:8706200-8709000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:8706200-8709000	Strong transcription	Brain Hippocampus Middle	brain

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