Variant report

Variant	rs177563
Chromosome Location	chr11:16959611-16959612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16956450..16960199-chr11:17097613..17099351,3	MCF-7	breast:
2	chr11:16958660..16960356-chr11:17034673..17037348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10741713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024090	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418111	0.88[JPT][hapmap]
rs16933675	0.87[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap]
rs16933680	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs16933682	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16933683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933684	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177551	0.83[ASN][1000 genomes]
rs177554	0.86[ASN][1000 genomes]
rs177559	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177560	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860025	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2057788	0.88[JPT][hapmap]
rs2108603	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2190752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2215086	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2353367	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35005405	0.90[ASN][1000 genomes]
rs35109048	0.92[ASN][1000 genomes]
rs369457	0.88[JPT][hapmap]
rs371905	0.88[JPT][hapmap]
rs381815	0.94[JPT][hapmap]
rs387849	0.88[JPT][hapmap]
rs388968	0.86[JPT][hapmap]
rs389967	0.82[JPT][hapmap]
rs390974	0.88[JPT][hapmap]
rs393633	0.94[JPT][hapmap]
rs397343	0.88[JPT][hapmap]
rs397373	0.93[JPT][hapmap]
rs400085	0.88[JPT][hapmap]
rs400458	0.88[JPT][hapmap]
rs401820	0.88[JPT][hapmap]
rs402982	0.82[JPT][hapmap]
rs406890	0.88[JPT][hapmap]
rs407354	0.94[JPT][hapmap]
rs409354	0.83[CHD][hapmap]
rs414219	0.88[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap]
rs414992	0.94[JPT][hapmap]
rs417406	0.82[JPT][hapmap]
rs420975	0.88[JPT][hapmap]
rs425325	0.94[JPT][hapmap]
rs428840	0.93[JPT][hapmap]
rs428933	0.88[JPT][hapmap]
rs430211	0.88[JPT][hapmap]
rs431208	0.88[JPT][hapmap]
rs432046	0.88[CHD][hapmap];0.94[JPT][hapmap]
rs433212	0.88[JPT][hapmap]
rs433225	0.88[JPT][hapmap]
rs434761	0.88[JPT][hapmap]
rs434899	0.87[JPT][hapmap]
rs435206	0.93[JPT][hapmap]
rs440212	0.88[JPT][hapmap]
rs445146	0.87[JPT][hapmap]
rs445205	0.88[CHD][hapmap];0.94[JPT][hapmap]
rs446518	0.93[JPT][hapmap]
rs448671	0.84[CHD][hapmap];0.94[JPT][hapmap]
rs450828	0.88[JPT][hapmap]
rs452414	0.88[JPT][hapmap]
rs452745	0.88[JPT][hapmap]
rs454869	0.88[JPT][hapmap]
rs4756875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757445	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4757449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757454	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486329	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7111470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7396552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7481080	0.83[JPT][hapmap]
rs758402	0.86[ASN][1000 genomes]
rs7924696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926335	0.88[JPT][hapmap]
rs7929137	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7939987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs982811	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	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	nsv7689	chr11:16945953-16990852	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs177563	ABCC8	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16948400-16967800	Weak transcription	HepG2	liver
2	chr11:16948600-16967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:16954600-16967400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:16954800-16964200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:16955600-16962400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:16955600-16991000	Weak transcription	Right Atrium	heart
7	chr11:16955800-16962400	Weak transcription	Right Ventricle	heart
8	chr11:16955800-16964800	Weak transcription	Left Ventricle	heart
9	chr11:16955800-16967600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:16955800-16967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:16956000-16963400	Weak transcription	Gastric	stomach
12	chr11:16957400-16961600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:16958400-16967800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:16958600-16967800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:16958800-16961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:16958800-16967600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:16959000-16960600	Enhancers	Fetal Heart	heart
18	chr11:16959000-16960800	Strong transcription	Fetal Intestine Small	intestine
19	chr11:16959000-16967000	Weak transcription	Stomach Mucosa	stomach
20	chr11:16959400-16959800	Strong transcription	Fetal Intestine Large	intestine
21	chr11:16959600-16960000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:16959600-16960000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:16959600-16960200	Enhancers	Brain Substantia Nigra	brain

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