Variant report

Variant	rs17814690
Chromosome Location	chr11:36319223-36319224
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr11:36318513-36319440	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr11:36318568-36319299	IMR90	lung:	n/a	n/a
3	RCOR1	chr11:36318188-36319279	Hela-S3	cervix:	n/a	n/a
4	MYC	chr11:36318796-36319244	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr11:36318231-36319429	Hela-S3	cervix:	n/a	n/a
6	TCF7L2	chr11:36318331-36319517	Hela-S3	cervix:	n/a	n/a
7	JUND	chr11:36318166-36319288	Hela-S3	cervix:	n/a	n/a
8	EP300	chr11:36318222-36319247	Hela-S3	cervix:	n/a	chr11:36318761-36318777
9	BRCA1	chr11:36318219-36319227	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr11:36318310-36319257	Hela-S3	cervix:	n/a	n/a
11	GTF2F1	chr11:36318301-36319386	Hela-S3	cervix:	n/a	n/a
12	JUN	chr11:36318314-36319305	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:36318171-36319770	Hela-S3	cervix:	n/a	chr11:36318945-36318956 chr11:36318986-36318997
14	STAT3	chr11:36318260-36319233	Hela-S3	cervix:	n/a	chr11:36318988-36318996 chr11:36318967-36318975 chr11:36318947-36318955 chr11:36318871-36318879
15	RAD21	chr11:36318249-36319256	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr11:36318282-36319520	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:36318537-36319427	MCF10A-Er-Src	breast:	n/a	n/a
18	PRDM1	chr11:36318264-36319585	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36319061..36322401-chr11:36325495..36327520,3	K562	blood:

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10836528	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836530	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033538	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11602024	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12294763	1.00[JPT][hapmap]
rs1562325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1562326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1562327	0.86[YRI][hapmap]
rs2422185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2422186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2422187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901672	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4418777	0.86[YRI][hapmap]
rs56386213	0.84[EUR][1000 genomes]
rs61878683	0.84[EUR][1000 genomes]
rs61878687	0.80[EUR][1000 genomes]
rs7109505	0.86[YRI][hapmap]
rs72946165	0.84[EUR][1000 genomes]
rs9787880	0.86[YRI][hapmap]
rs9787894	0.81[YRI][hapmap]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking 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 miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17814690	LINC00610	cis	Thyroid	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36322600	Weak transcription	Spleen	Spleen
2	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36311600-36325800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:36311800-36321800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:36314200-36321200	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:36316400-36320400	Enhancers	Adipose Nuclei	Adipose
7	chr11:36317600-36319400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:36317600-36319600	Active TSS	Brain Angular Gyrus	brain
9	chr11:36317600-36319600	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:36317600-36320600	Enhancers	Fetal Intestine Small	intestine
11	chr11:36317600-36320800	Enhancers	Fetal Intestine Large	intestine
12	chr11:36317800-36319400	Enhancers	Colonic Mucosa	Colon
13	chr11:36317800-36319800	Active TSS	Brain Substantia Nigra	brain
14	chr11:36318000-36319600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr11:36318000-36321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:36318200-36319400	Enhancers	Osteobl	bone
17	chr11:36318200-36319600	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:36318200-36322400	Weak transcription	Placenta	Placenta
19	chr11:36318400-36319400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:36318400-36319600	Flanking Active TSS	Hela-S3	cervix
21	chr11:36318400-36319800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:36318400-36319800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:36318600-36319400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:36318800-36319600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:36318800-36321800	Weak transcription	Fetal Lung	lung
26	chr11:36319000-36319800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr11:36319000-36321000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:36319200-36319400	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:36319200-36319400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:36319200-36319800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:36319200-36331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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