Variant report

Variant	rs17135631
Chromosome Location	chr7:101206594-101206595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101198261..101200109-chr7:101205312..101207147,2	MCF-7	breast:
2	chr7:101199428..101201202-chr7:101204927..101207816,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1046516	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs1174	0.91[CEU][hapmap];0.99[EUR][1000 genomes]
rs11982657	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17393028	0.91[CEU][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17471501	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62465119	0.98[EUR][1000 genomes]
rs62465120	0.98[EUR][1000 genomes]
rs62465121	0.98[EUR][1000 genomes]
rs62465122	0.98[EUR][1000 genomes]
rs62465124	0.98[EUR][1000 genomes]
rs6954825	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6954979	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955330	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955500	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6972341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1796652	chr7:101156017-101219459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv818542	chr7:101202840-101208943	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17135631	PLOD3	cis	lymphoblastoid	seeQTL
rs17135631	ZNF498	cis	cerebellum	SCAN
rs17135631	FAM185A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101186200-101207600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:101186600-101206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:101189200-101207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:101191400-101207000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:101191400-101207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:101191600-101207200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:101191800-101207000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:101193600-101207600	Weak transcription	Fetal Kidney	kidney
9	chr7:101194400-101208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:101195000-101207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:101199600-101207000	Weak transcription	Lung	lung
12	chr7:101200000-101207000	Weak transcription	Spleen	Spleen
13	chr7:101203000-101207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:101205400-101207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:101205600-101206600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:101206000-101208000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr7:101206000-101208400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr7:101206200-101207600	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr7:101206200-101207800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:101206400-101207000	Weak transcription	A549	lung
21	chr7:101206400-101207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:101206400-101208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr7:101206400-101209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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