Variant report

Variant	rs1242511
Chromosome Location	chr17:17369970-17369971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17367351..17374142-chr17:17375377..17382594,8	MCF-7	breast:
2	chr17:17367834..17370645-chr22:35627497..35629414,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11652200	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242490	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242491	0.82[EUR][1000 genomes]
rs1242493	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1242498	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242499	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242500	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242501	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242502	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1242503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1242505	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242506	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242510	0.83[EUR][1000 genomes]
rs1242514	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242515	0.82[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242517	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242518	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1263507	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1263509	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12938634	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2232831	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2660836	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2694920	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2694926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694927	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28435349	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4479310	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs4646410	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs4924755	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4924868	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924877	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924890	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924891	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs711352	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7219976	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7220132	0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7220217	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8074074	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs8074191	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17363600-17371000	Weak transcription	Pancreas	Pancrea
2	chr17:17363600-17380000	Weak transcription	Right Atrium	heart
3	chr17:17363800-17380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:17366000-17370800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:17366000-17371000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr17:17367000-17370000	Weak transcription	Brain Anterior Caudate	brain
7	chr17:17367000-17370800	Weak transcription	Fetal Intestine Small	intestine
8	chr17:17367600-17370000	Weak transcription	Brain Substantia Nigra	brain
9	chr17:17369400-17372600	Enhancers	Brain Germinal Matrix	brain
10	chr17:17369600-17370000	Enhancers	Fetal Brain Female	brain
11	chr17:17369600-17370000	Weak transcription	Hela-S3	cervix
12	chr17:17369600-17370800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:17369800-17370000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:17369800-17370000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:17369800-17371200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr17:17369800-17371200	Enhancers	Brain Angular Gyrus	brain
17	chr17:17369800-17371400	Enhancers	Brain Cingulate Gyrus	brain
18	chr17:17369800-17371400	Enhancers	HSMM	muscle
19	chr17:17369800-17371400	Enhancers	HSMMtube	muscle
20	chr17:17369800-17372000	Enhancers	Brain Hippocampus Middle	brain
21	chr17:17369800-17372000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr17:17369800-17372400	Enhancers	Fetal Brain Male	brain
23	chr17:17369800-17374400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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