Variant report

Variant	rs7965266
Chromosome Location	chr12:48280134-48280135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48263786..48264621-chr12:48279992..48280831,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1989969	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853559	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2853564	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7965274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979131	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:48275200-48280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:48277000-48280200	Enhancers	HMEC	breast
5	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
6	chr12:48277200-48280200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
8	chr12:48277200-48290600	Weak transcription	Gastric	stomach
9	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:48277400-48280400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:48277400-48280800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:48277400-48282200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:48277600-48280200	Enhancers	Primary T cells from cord blood	blood
14	chr12:48277600-48280600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:48277600-48281200	Weak transcription	HSMMtube	muscle
16	chr12:48277600-48282200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
19	chr12:48277800-48283000	Weak transcription	Primary B cells from cord blood	blood
20	chr12:48278200-48280400	Enhancers	K562	blood
21	chr12:48278400-48282400	Weak transcription	Small Intestine	intestine
22	chr12:48278400-48282400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:48278400-48283000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
26	chr12:48278600-48287800	Strong transcription	NHEK	skin
27	chr12:48278800-48280800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:48278800-48281200	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:48279000-48280400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:48279000-48280800	Enhancers	Osteobl	bone
31	chr12:48279000-48281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:48279200-48280200	Weak transcription	NHLF	lung
33	chr12:48279200-48285800	Weak transcription	Colonic Mucosa	Colon
34	chr12:48279200-48286000	Weak transcription	Lung	lung
35	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:48279400-48280800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:48279400-48280800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:48279400-48281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:48279400-48281600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:48279400-48282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:48279400-48282800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:48279400-48283000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:48279400-48283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:48279400-48283200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:48279400-48283200	Weak transcription	Placenta	Placenta
46	chr12:48279400-48286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:48279600-48280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:48279600-48280800	Enhancers	GM12878-XiMat	blood
49	chr12:48279600-48280800	Enhancers	NHDF-Ad	bronchial
50	chr12:48279600-48283000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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