Variant report

Variant	rs1017731
Chromosome Location	chr11:47737805-47737806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47737748-47738140	K562	blood:	n/a	n/a
2	RFX5	chr11:47737723-47738090	K562	blood:	n/a	n/a
3	POLR2A	chr11:47737790-47738095	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:47736502-47738601	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:47737720-47738817	K562	blood:	n/a	n/a
6	POLR2A	chr11:47737743-47737961	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:47737700-47738755	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47734421..47738084-chr11:47868728..47871724,4	K562	blood:
2	chr11:47662579..47666117-chr11:47735408..47738256,8	MCF-7	breast:
3	chr11:47662583..47667763-chr11:47735291..47739208,6	MCF-7	breast:
4	chr11:47733919..47739426-chr11:47787626..47790588,5	MCF-7	breast:
5	chr11:47736234..47739669-chr11:47788606..47790744,3	MCF-7	breast:

No data

Variant related genes	Relation type
AGBL2	TF binding region
ENSG00000030066	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10742821	1.00[AFR][1000 genomes]
rs10742823	0.83[AFR][1000 genomes]
rs11039366	1.00[AFR][1000 genomes]
rs2125835	1.00[AFR][1000 genomes]
rs2950887	0.83[AFR][1000 genomes]
rs34037669	1.00[AFR][1000 genomes]
rs3740655	1.00[LWK][hapmap]
rs4752794	1.00[AFR][1000 genomes]
rs4752795	1.00[AFR][1000 genomes]
rs4752864	1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs4752866	1.00[AFR][1000 genomes]
rs4752870	1.00[AFR][1000 genomes]
rs6485766	1.00[AFR][1000 genomes]
rs6485776	1.00[AFR][1000 genomes]
rs6485777	1.00[AFR][1000 genomes]
rs6485785	1.00[AFR][1000 genomes]
rs7110289	1.00[AFR][1000 genomes]
rs7478773	1.00[AFR][1000 genomes]
rs930940	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47736800-47752400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:47737000-47738000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:47737000-47738400	Weak transcription	Lung	lung
4	chr11:47737000-47739200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:47737200-47738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:47737200-47738000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:47737200-47738000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:47737200-47738000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:47737200-47738000	Weak transcription	HSMMtube	muscle
11	chr11:47737200-47738000	Weak transcription	NHDF-Ad	bronchial
12	chr11:47737200-47738200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:47737200-47738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:47737200-47738200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:47737200-47738200	Weak transcription	Adipose Nuclei	Adipose
16	chr11:47737200-47738200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:47737200-47738200	Weak transcription	Left Ventricle	heart
18	chr11:47737200-47738200	Weak transcription	NHLF	lung
19	chr11:47737200-47738400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:47737200-47738400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:47737200-47738400	Weak transcription	Right Ventricle	heart
22	chr11:47737200-47738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:47737200-47738400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:47737200-47738400	Weak transcription	K562	blood
25	chr11:47737200-47739600	Weak transcription	Small Intestine	intestine
26	chr11:47737200-47739800	Weak transcription	Ovary	ovary
27	chr11:47737200-47740000	Weak transcription	Colonic Mucosa	Colon
28	chr11:47737200-47740200	Weak transcription	Fetal Kidney	kidney
29	chr11:47737200-47740400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:47737200-47740400	Weak transcription	Pancreas	Pancrea
31	chr11:47737200-47740400	Weak transcription	Spleen	Spleen
32	chr11:47737200-47740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:47737200-47740600	Weak transcription	Esophagus	oesophagus
34	chr11:47737200-47740800	Weak transcription	Fetal Brain Male	brain
35	chr11:47737200-47742600	Weak transcription	Gastric	stomach
36	chr11:47737200-47743000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:47737200-47743000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:47737200-47743000	Weak transcription	Fetal Heart	heart
39	chr11:47737200-47744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:47737200-47745200	Weak transcription	Aorta	Aorta
41	chr11:47737200-47745200	Weak transcription	Psoas Muscle	Psoas
42	chr11:47737200-47745600	Weak transcription	Stomach Mucosa	stomach
43	chr11:47737200-47747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:47737200-47748000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:47737200-47752200	Weak transcription	Right Atrium	heart
46	chr11:47737200-47758200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:47737400-47738000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:47737400-47738000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:47737400-47738000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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