Variant report

Variant	rs12187125
Chromosome Location	chr17:17815283-17815284
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	chr17:17806459..17808232-chr17:17813568..17815974,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10058498	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10059976	0.81[ASN][1000 genomes]
rs13162638	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13173178	0.81[AMR][1000 genomes]
rs1529505	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2115499	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242995	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243003	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243020	0.94[ASN][1000 genomes]
rs2243022	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243026	0.93[ASN][1000 genomes]
rs2243029	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243031	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2243051	0.91[ASN][1000 genomes]
rs2243053	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2243057	0.91[ASN][1000 genomes]
rs2243059	0.91[ASN][1000 genomes]
rs4380630	0.93[ASN][1000 genomes]
rs444403	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4591731	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4703719	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4704365	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6453250	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6453251	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66946336	0.90[ASN][1000 genomes]
rs6880329	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6887035	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6894167	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6897362	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7703930	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7709688	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
7	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
2	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17797000-17817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:17801200-17817200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:17802400-17817000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:17802600-17817600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17802600-17820000	Weak transcription	Primary B cells from cord blood	blood
9	chr17:17802600-17822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:17805000-17817400	Weak transcription	Small Intestine	intestine
11	chr17:17807200-17816800	Weak transcription	Hela-S3	cervix
12	chr17:17810000-17817000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:17810000-17817000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:17810400-17817000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:17810400-17817000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:17810400-17817000	Weak transcription	Thymus	Thymus
17	chr17:17810400-17817200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:17810600-17817000	Weak transcription	Osteobl	bone
19	chr17:17810600-17817200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:17810600-17817200	Weak transcription	Gastric	stomach
21	chr17:17810600-17817400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:17810600-17817400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:17810600-17822800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:17810800-17816800	Weak transcription	NHEK	skin
25	chr17:17810800-17816800	Weak transcription	NHLF	lung
26	chr17:17810800-17817000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:17810800-17817000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:17810800-17817000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:17810800-17817000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:17810800-17817000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:17810800-17817000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr17:17810800-17817000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr17:17810800-17817200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr17:17810800-17817200	Weak transcription	Colonic Mucosa	Colon
35	chr17:17810800-17817600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:17811000-17816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:17811000-17816800	Weak transcription	HMEC	breast
39	chr17:17811000-17817000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr17:17811000-17817000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr17:17811000-17817200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:17811000-17817400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr17:17811200-17816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:17811200-17817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr17:17811400-17817800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
47	chr17:17811600-17816800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:17811800-17816800	Weak transcription	HSMM	muscle
49	chr17:17814600-17817000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:17814800-17816000	Weak transcription	H1 Cell Line	embryonic stem cell

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