Variant report

Variant	rs7928675
Chromosome Location	chr11:16761806-16761807
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:16761544-16762302	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:16759189-16762064	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:16761799-16762166	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:16759099-16762017	K562	blood:	n/a	n/a
5	POLR2A	chr11:16759113-16762148	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:16761668-16762163	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:16759183-16762100	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:16759127-16762273	HepG2	liver:	n/a	n/a
9	ZNF263	chr11:16761700-16762221	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr11:16761311-16761823	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:16759102-16761882	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:16759357-16762072	IMR90	lung:	n/a	n/a
13	POLR2A	chr11:16759028-16762227	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16634578..16636953-chr11:16760027..16762559,3	K562	blood:
2	chr11:16759176..16761906-chr11:17098692..17100616,2	MCF-7	breast:
3	chr11:16761361..16764357-chr11:16767480..16769884,3	MCF-7	breast:
4	chr11:16760740..16762840-chr11:16767428..16769739,2	MCF-7	breast:
5	chr11:16759714..16762827-chr11:17097720..17101099,4	K562	blood:
6	chr11:16761666..16763335-chr11:16773162..16775562,2	K562	blood:

No data

Variant related genes	Relation type
C11orf58	TF binding region
SOX6	TF binding region
ENSG00000110696	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10741709	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10766343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832668	0.82[EUR][1000 genomes]
rs10832671	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10832672	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832674	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024012	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024033	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36002981	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109995	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111016	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7116121	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118181	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7127877	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7128876	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951676	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:16759200-16762000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:16759200-16762000	Active TSS	Fetal Kidney	kidney
3	chr11:16759200-16762000	Active TSS	Right Ventricle	heart
4	chr11:16759200-16762200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:16759200-16762200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:16759200-16762200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:16759200-16762200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:16759200-16762800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:16759200-16763200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:16759400-16762000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:16759400-16762000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:16759400-16762200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:16760200-16762200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
14	chr11:16760800-16762000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:16760800-16762000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:16760800-16762000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:16760800-16762000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:16760800-16762200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr11:16761000-16762000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:16761000-16762000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:16761000-16762200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:16761000-16762200	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr11:16761000-16762400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:16761200-16762000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:16761200-16762000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr11:16761200-16762000	Flanking Active TSS	HUVEC	blood vessel
27	chr11:16761200-16762200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:16761200-16762200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:16761200-16762200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr11:16761200-16762200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
31	chr11:16761200-16762200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:16761200-16762200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr11:16761200-16762400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:16761200-16763000	Weak transcription	Esophagus	oesophagus
35	chr11:16761400-16762000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:16761400-16762000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:16761400-16762000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:16761400-16762000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:16761400-16762000	Weak transcription	Pancreas	Pancrea
40	chr11:16761400-16762200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:16761400-16762200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:16761400-16762200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr11:16761400-16762200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:16761400-16762200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:16761400-16762400	Flanking Active TSS	Hela-S3	cervix
46	chr11:16761400-16763000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:16761400-16763000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:16761400-16763000	Weak transcription	Gastric	stomach
49	chr11:16761400-16763000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:16761400-16764000	Enhancers	Primary monocytes fromperipheralblood	blood

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