Variant report

Variant	rs4757463
Chromosome Location	chr11:16997415-16997416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16997178..16999092-chr11:17003135..17008712,4	MCF-7	breast:
2	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:
3	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10741717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832706	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12291049	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4757460	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757461	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6416170	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116057	0.85[YRI][hapmap]
rs7116082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130301	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7482906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3436157	chr11:16994276-16998574	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	esv3527412	chr11:16995276-16997821	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	nsv975154	chr11:16995394-16997589	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3326498	chr11:16995526-16997624	Enhancers Strong transcription Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-16999000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
4	chr11:16985200-16997600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:16985400-16997600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:16990000-16999000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:16990200-16998000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:16990200-16998000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:16990200-16999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:16991400-16998000	Weak transcription	Gastric	stomach
11	chr11:16991400-16999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
13	chr11:16991800-17001000	Weak transcription	Fetal Kidney	kidney
14	chr11:16991800-17001000	Weak transcription	HepG2	liver
15	chr11:16992000-17001200	Weak transcription	Liver	Liver
16	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
17	chr11:16992400-16998000	Weak transcription	Fetal Stomach	stomach
18	chr11:16992400-16998400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:16992800-16999000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:16993800-16998400	Weak transcription	Fetal Intestine Large	intestine
21	chr11:16993800-16999000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:16994200-17000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:16994600-16999400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:16995000-16998000	Weak transcription	Stomach Mucosa	stomach
25	chr11:16995200-16998200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:16995400-16997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:16995400-16997800	Weak transcription	Pancreas	Pancrea
28	chr11:16995600-16997600	Weak transcription	Brain Anterior Caudate	brain
29	chr11:16997400-16997600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:16997400-16997800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:16997400-16997800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:16997400-16998200	Enhancers	Lung	lung
33	chr11:16997400-16998800	Strong transcription	Fetal Intestine Small	intestine
34	chr11:16997400-17000000	Enhancers	Brain Hippocampus Middle	brain
35	chr11:16997400-17000600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:16997400-17000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:16997400-17002000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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