Variant report

Variant	rs477783
Chromosome Location	chr11:75090100-75090101
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	chr11:75021655..75024560-chr11:75087603..75090493,2	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11236417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236420	0.84[ASN][1000 genomes]
rs12363921	0.92[ASN][1000 genomes]
rs2851459	0.89[MEX][hapmap]
rs3016302	0.96[ASN][1000 genomes]
rs3016304	0.84[ASN][1000 genomes]
rs473233	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473961	0.96[ASN][1000 genomes]
rs475099	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs475161	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs477625	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478777	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489691	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs515343	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs521455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532279	0.91[ASN][1000 genomes]
rs536516	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs536538	0.84[ASN][1000 genomes]
rs542784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs542944	0.84[ASN][1000 genomes]
rs546715	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs552129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs555875	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs561923	0.95[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs562946	0.94[CEU][hapmap]
rs566567	0.95[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs567647	0.91[ASN][1000 genomes]
rs575781	0.91[ASN][1000 genomes]
rs576508	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580152	0.92[ASN][1000 genomes]
rs598062	0.86[ASN][1000 genomes]
rs598936	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs613248	0.84[ASN][1000 genomes]
rs627133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629991	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs630429	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs646360	0.92[ASN][1000 genomes]
rs654079	0.95[ASN][1000 genomes]
rs663235	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs665702	0.95[CEU][hapmap]
rs672534	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs686020	0.96[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs477783	KCNE3	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75081200-75095200	Weak transcription	Dnd41	blood
2	chr11:75081400-75091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:75083600-75091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:75083600-75094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:75083800-75091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:75083800-75092000	Weak transcription	Adipose Nuclei	Adipose
7	chr11:75083800-75099400	Weak transcription	Right Atrium	heart
8	chr11:75084000-75090200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:75084000-75091600	Weak transcription	K562	blood
10	chr11:75084000-75091800	Weak transcription	Liver	Liver
11	chr11:75084800-75090200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:75084800-75090200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:75085000-75091200	Weak transcription	Stomach Mucosa	stomach
14	chr11:75085000-75091800	Weak transcription	Hela-S3	cervix
15	chr11:75087000-75091800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:75087400-75091600	Weak transcription	Gastric	stomach
17	chr11:75087400-75099400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:75087800-75090400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:75087800-75090800	Weak transcription	Placenta	Placenta
20	chr11:75087800-75091400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:75087800-75091400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:75087800-75091800	Weak transcription	Colonic Mucosa	Colon
23	chr11:75087800-75091800	Weak transcription	Spleen	Spleen
24	chr11:75088200-75091400	Weak transcription	A549	lung
25	chr11:75089800-75092400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:75089800-75092600	Enhancers	Fetal Intestine Large	intestine
27	chr11:75089800-75093000	Enhancers	Fetal Intestine Small	intestine
28	chr11:75090000-75090200	Weak transcription	Fetal Stomach	stomach
29	chr11:75090000-75091600	Enhancers	HepG2	liver

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