Variant report

Variant	rs35587183
Chromosome Location	chr11:62318656-62318657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62317168..62321180-chr11:62340667..62343114,3	K562	blood:
2	chr11:62317852..62319388-chr11:62478445..62480684,2	K562	blood:
3	chr11:62318361..62321111-chr11:62622331..62624141,2	MCF-7	breast:
4	chr11:62165520..62167612-chr11:62317006..62319512,2	K562	blood:
5	chr11:62254167..62256598-chr11:62317883..62320645,2	MCF-7	breast:
6	chr11:62318529..62320437-chr11:62340667..62342213,2	K562	blood:
7	chr11:62317237..62320171-chr11:62478237..62479875,2	MCF-7	breast:
8	chr11:62317359..62322036-chr11:62339489..62342782,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168003	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1061093	1.00[ASN][1000 genomes]
rs11231137	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231138	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11231141	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231144	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231145	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11231154	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11231155	0.88[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs11231156	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11231161	0.81[GIH][hapmap];0.80[TSI][hapmap]
rs11231176	1.00[JPT][hapmap]
rs12049914	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12223627	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12225213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12226821	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17773169	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.93[ASN][1000 genomes]
rs1801144	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2428548	1.00[CHB][hapmap]
rs2428549	1.00[CHB][hapmap]
rs2428551	0.90[ASN][1000 genomes]
rs2509961	1.00[CHB][hapmap]
rs2509982	1.00[CHB][hapmap]
rs2512562	1.00[CHB][hapmap]
rs2512563	1.00[CHB][hapmap]
rs2516633	0.95[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2849030	0.88[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs2849031	0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs34065644	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35156678	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs58720921	0.90[ASN][1000 genomes]
rs60098285	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61296092	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67308910	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7124057	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71490390	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71490392	0.80[AMR][1000 genomes]
rs71490394	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72927213	0.80[ASN][1000 genomes]
rs7928833	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930896	0.87[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7937146	0.90[ASN][1000 genomes]
rs7942154	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943191	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs35587183	EML3	cis	Esophagus Mucosa	GTEx
rs35587183	CNIH2	cis	parietal	SCAN
rs35587183	C11orf48	cis	cerebellum	SCAN
rs35587183	TUT1	cis	parietal	SCAN
rs35587183	EML3	cis	cerebellum	SCAN
rs35587183	EML3	cis	Whole Blood	GTEx
rs35587183	SLC22A9	cis	parietal	SCAN
rs35587183	MTA2	cis	Esophagus Mucosa	GTEx
rs35587183	EEF1G	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62314800-62319200	Weak transcription	Small Intestine	intestine
2	chr11:62314800-62320000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:62315200-62319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:62315400-62319000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:62315400-62319600	Enhancers	Ovary	ovary
6	chr11:62315400-62320400	Enhancers	Fetal Intestine Large	intestine
7	chr11:62315400-62320400	Enhancers	Fetal Intestine Small	intestine
8	chr11:62315400-62320400	Enhancers	Fetal Muscle Leg	muscle
9	chr11:62315400-62321200	Weak transcription	Gastric	stomach
10	chr11:62315400-62323600	Enhancers	Left Ventricle	heart
11	chr11:62315600-62319000	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:62315600-62319200	Weak transcription	Brain Anterior Caudate	brain
13	chr11:62315600-62319400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:62315600-62320200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:62315800-62319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:62315800-62319200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:62315800-62319200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:62315800-62320000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:62315800-62320400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:62315800-62320400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:62316200-62319000	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:62316200-62319200	Weak transcription	HSMMtube	muscle
23	chr11:62316400-62325000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:62316600-62318800	Weak transcription	NHLF	lung
25	chr11:62316600-62319000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:62316600-62319000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:62316600-62319000	Weak transcription	NHDF-Ad	bronchial
28	chr11:62316600-62319200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:62316600-62319200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:62316600-62319200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:62316600-62319200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:62316600-62319200	Weak transcription	HSMM	muscle
33	chr11:62316600-62320000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:62316800-62319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:62316800-62319000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:62316800-62319000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:62316800-62319000	Enhancers	HepG2	liver
38	chr11:62316800-62319000	Weak transcription	HMEC	breast
39	chr11:62316800-62319000	Weak transcription	NH-A	brain
40	chr11:62316800-62319000	Weak transcription	Osteobl	bone
41	chr11:62316800-62319200	Weak transcription	Esophagus	oesophagus
42	chr11:62316800-62319200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:62316800-62320200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:62316800-62320200	Enhancers	Stomach Mucosa	stomach
45	chr11:62317000-62319000	Weak transcription	HUVEC	blood vessel
46	chr11:62317000-62319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:62317200-62319000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr11:62317200-62319000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:62317200-62319600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:62317200-62320000	Enhancers	Primary T cells from cord blood	blood

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