Variant report

Variant	rs10833097
Chromosome Location	chr11:19368032-19368033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:19367940-19368090	HBMEC	blood vessel:	n/a	n/a
2	MAZ	chr11:19367890-19368075	GM12878	blood:	n/a	n/a
3	CTCF	chr11:19367900-19368050	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr11:19367920-19368070	HEK293	kidney:	n/a	n/a
5	PAX5	chr11:19367882-19368110	GM12892	blood:	n/a	n/a
6	CTCF	chr11:19367940-19368090	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr11:19367900-19368050	GM06990	blood:	n/a	n/a
8	CTCF	chr11:19367944-19368035	GM20000	blood:	n/a	n/a
9	CTCF	chr11:19367900-19368050	GM12874	blood:	n/a	n/a
10	CTCF	chr11:19367934-19368081	GM12878	blood:	n/a	n/a
11	CTCF	chr11:19367960-19368110	GM12871	blood:	n/a	n/a
12	CTCF	chr11:19367840-19368185	GM12878	blood:	n/a	n/a
13	RAD21	chr11:19367880-19368157	IMR90	lung:	n/a	n/a
14	PAX5	chr11:19367657-19368166	GM12878	blood:	n/a	n/a
15	CTCF	chr11:19367964-19368041	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:19367840-19368124	GM19238	blood:	n/a	n/a
17	CTCF	chr11:19367892-19368092	GM12891	blood:	n/a	n/a
18	CTCF	chr11:19367980-19368130	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr11:19367865-19368121	GM12892	blood:	n/a	n/a
20	CTCF	chr11:19367960-19368110	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr11:19367940-19368090	GM12869	blood:	n/a	n/a
22	CTCF	chr11:19367920-19368070	Caco-2	colon:	n/a	n/a
23	CTCF	chr11:19367920-19368070	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr11:19367900-19368050	HRPEpiC	eye:	n/a	n/a
25	RAD21	chr11:19367894-19368086	K562	blood:	n/a	n/a
26	CTCF	chr11:19367900-19368050	Caco-2	colon:	n/a	n/a
27	CTCF	chr11:19367920-19368070	GM12866	blood:	n/a	n/a
28	ZNF143	chr11:19367985-19368179	GM12878	blood:	n/a	chr11:19367996-19368014
29	CTCF	chr11:19367920-19368070	GM12874	blood:	n/a	n/a
30	CTCF	chr11:19367920-19368070	AG09319	gingival:	n/a	n/a
31	CTCF	chr11:19367960-19368110	AG09319	gingival:	n/a	n/a
32	CTCF	chr11:19367940-19368078	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr11:19367803-19368077	GM19239	blood:	n/a	n/a
34	CTCF	chr11:19367980-19368130	GM12864	blood:	n/a	n/a
35	CTCF	chr11:19367920-19368070	GM12875	blood:	n/a	n/a
36	CTCF	chr11:19367882-19368098	GM19240	blood:	n/a	n/a
37	RAD21	chr11:19367861-19368146	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:19367052-19368048	H1-neurons	neurons:	n/a	n/a
39	CTCF	chr11:19367900-19368050	GM12865	blood:	n/a	n/a
40	CTCF	chr11:19367940-19368090	HMEC	breast:	n/a	n/a
41	CTCF	chr11:19367909-19368060	GM10266	blood:	n/a	n/a
42	CTCF	chr11:19367987-19368088	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr11:19367920-19368070	AG04450	lung:	n/a	n/a
44	CTCF	chr11:19367920-19368070	NHEK	skin:	n/a	n/a
45	RAD21	chr11:19367748-19368281	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr11:19367864-19368100	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:19367945-19368073	NHEK	skin:	n/a	n/a
48	RUNX3	chr11:19367741-19368126	GM12878	blood:	n/a	n/a
49	CTCF	chr11:19367900-19368050	WERI-Rb-1	eye:	n/a	n/a
50	EBF1	chr11:19367756-19368074	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19367015..19369311-chr11:19372712..19374597,2	MCF-7	breast:
2	chr11:19366187..19369709-chr11:19370339..19372862,3	MCF-7	breast:

No data

Variant related genes	Relation type
NAV2	TF binding region
ENSG00000166833	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4551739	0.84[JPT][hapmap]
rs66854291	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19366200-19368600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:19366400-19368400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:19366400-19368400	Active TSS	Brain Anterior Caudate	brain
4	chr11:19366400-19368400	Active TSS	Brain Substantia Nigra	brain
5	chr11:19366600-19368200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:19366600-19368200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
7	chr11:19366600-19368200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
8	chr11:19366600-19368200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
9	chr11:19366600-19368400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:19366600-19368400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:19366600-19368400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr11:19366600-19368400	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:19366600-19368400	Active TSS	NHDF-Ad	bronchial
14	chr11:19366600-19368600	Active TSS	Brain Angular Gyrus	brain
15	chr11:19366800-19368200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:19366800-19368200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:19366800-19368200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:19366800-19368200	Enhancers	Pancreas	Pancrea
19	chr11:19366800-19368400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr11:19366800-19368400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:19366800-19368400	Active TSS	Brain Hippocampus Middle	brain
22	chr11:19367000-19368200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:19367000-19368200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:19367000-19368200	Bivalent/Poised TSS	Ovary	ovary
25	chr11:19367000-19368200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr11:19367000-19368200	Flanking Active TSS	HUVEC	blood vessel
27	chr11:19367000-19368400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:19367000-19368400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:19367000-19368400	Active TSS	Right Atrium	heart
30	chr11:19367200-19368400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:19367200-19368400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
32	chr11:19367200-19368800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:19367400-19368200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:19367400-19368200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr11:19367400-19368200	Bivalent Enhancer	HMEC	breast
36	chr11:19367400-19369000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:19367600-19368200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:19367600-19368200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr11:19367600-19368200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
40	chr11:19367600-19368200	Bivalent Enhancer	Spleen	Spleen
41	chr11:19367600-19368400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr11:19367600-19368400	Bivalent Enhancer	Fetal Lung	lung
43	chr11:19367600-19368600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr11:19367800-19368200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:19367800-19368200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:19367800-19368200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
47	chr11:19367800-19368200	Bivalent Enhancer	Placenta	Placenta
48	chr11:19367800-19368200	Flanking Active TSS	GM12878-XiMat	blood
49	chr11:19367800-19368200	Bivalent/Poised TSS	NHLF	lung
50	chr11:19367800-19368400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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