Variant report

Variant	rs60917706
Chromosome Location	chr12:118773276-118773277
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	chr12:118766497..118768322-chr12:118773115..118775978,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10507288	1.00[AMR][1000 genomes]
rs16948163	1.00[AMR][1000 genomes]
rs16948168	1.00[AMR][1000 genomes]
rs16948171	1.00[AMR][1000 genomes]
rs16948173	1.00[AMR][1000 genomes]
rs16948189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948195	1.00[AMR][1000 genomes]
rs16948199	1.00[AMR][1000 genomes]
rs16948225	1.00[AMR][1000 genomes]
rs16948241	1.00[AMR][1000 genomes]
rs16948244	0.83[AFR][1000 genomes]
rs16948245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948258	1.00[AMR][1000 genomes]
rs16948259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17433259	1.00[AMR][1000 genomes]
rs55965100	1.00[AMR][1000 genomes]
rs56210304	1.00[AMR][1000 genomes]
rs56319724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56743940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56802741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56819745	1.00[AMR][1000 genomes]
rs57170485	1.00[AMR][1000 genomes]
rs57865918	1.00[AMR][1000 genomes]
rs58340234	1.00[AMR][1000 genomes]
rs58401336	0.81[AFR][1000 genomes]
rs58797246	1.00[AMR][1000 genomes]
rs59036425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189682	0.81[AFR][1000 genomes]
rs59558138	1.00[AMR][1000 genomes]
rs60160994	1.00[AMR][1000 genomes]
rs60749048	1.00[AMR][1000 genomes]
rs7963735	1.00[AMR][1000 genomes]
rs7963880	1.00[AMR][1000 genomes]
rs7977168	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560390	chr12:118756336-118778232	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:118754600-118775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:118763000-118773800	Weak transcription	Dnd41	blood
8	chr12:118764000-118774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:118767000-118775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:118767200-118774000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:118767400-118778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:118767800-118775200	Weak transcription	HSMM	muscle
13	chr12:118768400-118776600	Weak transcription	Fetal Stomach	stomach
14	chr12:118768800-118775800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:118768800-118790400	Weak transcription	Primary T cells from cord blood	blood
16	chr12:118769000-118778000	Weak transcription	Stomach Mucosa	stomach
17	chr12:118769000-118783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:118769000-118783200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:118769000-118784000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:118769200-118775400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:118769200-118776200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:118769200-118776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:118769200-118782000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:118769200-118783200	Weak transcription	Gastric	stomach
25	chr12:118769200-118785000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:118769200-118785800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:118769200-118791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:118769800-118782600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:118770000-118785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:118770600-118775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:118770600-118776200	Weak transcription	K562	blood
32	chr12:118770600-118780400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:118770800-118774600	Weak transcription	Primary B cells from cord blood	blood
34	chr12:118771000-118773400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:118771200-118774600	Weak transcription	Fetal Lung	lung
36	chr12:118771400-118773800	Weak transcription	NHDF-Ad	bronchial
37	chr12:118771400-118775200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:118771800-118776600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:118772200-118774200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:118772400-118773600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:118772400-118773800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:118772600-118774000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:118772600-118774200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:118772600-118774200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:118773000-118773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:118773000-118773800	Enhancers	A549	lung
47	chr12:118773000-118773800	Enhancers	GM12878-XiMat	blood
48	chr12:118773000-118775800	Enhancers	Osteobl	bone
49	chr12:118773000-118776200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:118773200-118774200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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