Variant report

Variant	rs57404216
Chromosome Location	chr2:11486684-11486685
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr2:11486666-11486934	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11482372..11487550-chr2:11525654..11531960,9	MCF-7	breast:
2	chr2:11373041..11376680-chr2:11481459..11486793,6	MCF-7	breast:
3	chr2:11481545..11486787-chr2:11491378..11496218,8	MCF-7	breast:
4	chr2:11470381..11472827-chr2:11486435..11488434,2	MCF-7	breast:
5	chr2:11295159..11297169-chr2:11486526..11488952,2	K562	blood:
6	chr2:11484521..11487208-chr2:11489833..11492072,2	K562	blood:
7	chr2:11483049..11486978-chr2:11530307..11533471,4	MCF-7	breast:
8	chr2:11462927..11464937-chr2:11485248..11487120,2	K562	blood:
9	chr2:11484922..11486828-chr2:11507256..11509884,2	K562	blood:
10	chr2:11485452..11487445-chr2:11503677..11505301,2	K562	blood:

No data

Variant related genes	Relation type
ROCK2	TF binding region
ENSG00000207267	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000231403	Chromatin interaction
ENSG00000226961	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10929732	1.00[ASN][1000 genomes]
rs12467103	1.00[ASN][1000 genomes]
rs1901011	0.97[ASN][1000 genomes]
rs2230775	1.00[AMR][1000 genomes]
rs2290157	1.00[AMR][1000 genomes]
rs3771109	1.00[AMR][1000 genomes]
rs4668721	1.00[ASN][1000 genomes]
rs55714132	1.00[AMR][1000 genomes]
rs56263305	0.91[AFR][1000 genomes]
rs57282107	1.00[AMR][1000 genomes]
rs57339546	1.00[AMR][1000 genomes]
rs57861284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58007526	1.00[AMR][1000 genomes]
rs58258043	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58275781	1.00[AMR][1000 genomes]
rs59194382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59211791	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59266229	0.92[AFR][1000 genomes]
rs59883361	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61452244	0.87[AFR][1000 genomes]
rs61575329	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6720821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743977	0.89[ASN][1000 genomes]
rs73915106	1.00[AMR][1000 genomes]
rs73915107	1.00[AMR][1000 genomes]
rs73915109	1.00[AMR][1000 genomes]
rs73915134	1.00[AMR][1000 genomes]
rs73915144	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915151	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915152	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915154	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915155	0.87[EUR][1000 genomes]
rs73915156	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915158	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915159	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73915161	0.87[AFR][1000 genomes]
rs73915164	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73915170	0.91[AFR][1000 genomes]
rs73915172	0.91[AFR][1000 genomes]
rs73915173	0.91[AFR][1000 genomes]
rs73915388	1.00[AMR][1000 genomes]
rs73915389	1.00[AMR][1000 genomes]
rs73915390	1.00[AMR][1000 genomes]
rs73915394	1.00[AMR][1000 genomes]
rs73915395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915396	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917504	1.00[AMR][1000 genomes]
rs73917507	1.00[AMR][1000 genomes]
rs73917508	1.00[AMR][1000 genomes]
rs73917511	1.00[AMR][1000 genomes]
rs7586803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591028	0.87[AFR][1000 genomes]
rs7596587	0.91[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	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:43 , 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	chr2:11485800-11486800	Enhancers	Fetal Intestine Small	intestine
3	chr2:11485800-11488400	Weak transcription	Pancreas	Pancrea
4	chr2:11485800-11488400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:11485800-11488600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:11485800-11488800	Weak transcription	Gastric	stomach
7	chr2:11485800-11497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:11485800-11497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11486000-11487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:11486000-11487000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:11486000-11488400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11486000-11488400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:11486000-11488600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11486000-11489400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:11486200-11486800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:11486200-11487800	Enhancers	A549	lung
17	chr2:11486200-11488400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:11486200-11488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:11486200-11489400	Enhancers	Adipose Nuclei	Adipose
20	chr2:11486200-11493800	Weak transcription	Stomach Mucosa	stomach
21	chr2:11486400-11487600	Weak transcription	Esophagus	oesophagus
22	chr2:11486400-11488000	Enhancers	Hela-S3	cervix
23	chr2:11486400-11488200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:11486400-11488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:11486400-11488400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:11486400-11488400	Weak transcription	Liver	Liver
27	chr2:11486400-11488400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:11486400-11488400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:11486400-11488400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:11486400-11488600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:11486400-11488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:11486400-11488800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:11486400-11489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:11486400-11490400	Enhancers	HepG2	liver
35	chr2:11486600-11487000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:11486600-11487600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:11486600-11488000	Weak transcription	HUVEC	blood vessel
38	chr2:11486600-11488400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:11486600-11488400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:11486600-11488400	Weak transcription	Placenta	Placenta
41	chr2:11486600-11488400	Weak transcription	Small Intestine	intestine
42	chr2:11486600-11489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:11486600-11493000	Weak transcription	Lung	lung

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