Variant report

Variant	rs73915167
Chromosome Location	chr2:11487113-11487114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:11486968-11487322	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:11487068-11487334	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:11487000-11487357	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr2:11487105-11487240	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:11482372..11487550-chr2:11525654..11531960,9	MCF-7	breast:
2	chr2:11470381..11472827-chr2:11486435..11488434,2	MCF-7	breast:
3	chr2:11295159..11297169-chr2:11486526..11488952,2	K562	blood:
4	chr2:11484521..11487208-chr2:11489833..11492072,2	K562	blood:
5	chr2:11462927..11464937-chr2:11485248..11487120,2	K562	blood:
6	chr2:11485452..11487445-chr2:11503677..11505301,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226961	TF binding region
ROCK2	TF binding region
ENSG00000231403	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000226961	Chromatin interaction

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

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

rs_ID	r²[population]
rs10929732	1.00[ASN][1000 genomes]
rs12467103	1.00[ASN][1000 genomes]
rs1901011	0.97[ASN][1000 genomes]
rs4668721	1.00[ASN][1000 genomes]
rs57404216	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58258043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59194382	0.87[EUR][1000 genomes]
rs59883361	0.87[EUR][1000 genomes]
rs61575329	0.81[EUR][1000 genomes]
rs6743977	0.89[ASN][1000 genomes]
rs73915151	0.87[EUR][1000 genomes]
rs73915152	0.87[EUR][1000 genomes]
rs73915154	0.87[EUR][1000 genomes]
rs73915155	0.87[EUR][1000 genomes]
rs73915156	0.87[EUR][1000 genomes]
rs73915158	0.87[EUR][1000 genomes]
rs73915159	0.87[EUR][1000 genomes]
rs73915164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915165	1.00[EUR][1000 genomes];1.00[ASN][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11485600-11488400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:11485800-11488400	Weak transcription	Pancreas	Pancrea
3	chr2:11485800-11488400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:11485800-11488600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:11485800-11488800	Weak transcription	Gastric	stomach
6	chr2:11485800-11497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:11485800-11497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:11486000-11488400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11486000-11488400	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:11486000-11488600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:11486000-11489400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:11486200-11487800	Enhancers	A549	lung
13	chr2:11486200-11488400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:11486200-11488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:11486200-11489400	Enhancers	Adipose Nuclei	Adipose
16	chr2:11486200-11493800	Weak transcription	Stomach Mucosa	stomach
17	chr2:11486400-11487600	Weak transcription	Esophagus	oesophagus
18	chr2:11486400-11488000	Enhancers	Hela-S3	cervix
19	chr2:11486400-11488200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:11486400-11488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:11486400-11488400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:11486400-11488400	Weak transcription	Liver	Liver
23	chr2:11486400-11488400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:11486400-11488400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:11486400-11488400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:11486400-11488600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:11486400-11488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:11486400-11488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:11486400-11489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:11486400-11490400	Enhancers	HepG2	liver
31	chr2:11486600-11487600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:11486600-11488000	Weak transcription	HUVEC	blood vessel
33	chr2:11486600-11488400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:11486600-11488400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:11486600-11488400	Weak transcription	Placenta	Placenta
36	chr2:11486600-11488400	Weak transcription	Small Intestine	intestine
37	chr2:11486600-11489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:11486600-11493000	Weak transcription	Lung	lung
39	chr2:11486800-11487200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:11486800-11488400	Weak transcription	Fetal Intestine Small	intestine
41	chr2:11487000-11488600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:11487000-11489000	Enhancers	Rectal Mucosa Donor 31	rectum

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