Variant report

Variant	rs918074
Chromosome Location	chr12:11825764-11825765
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	chr12:11823719..11826354-chr12:11826397..11829138,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10491985	0.86[EUR][1000 genomes]
rs11054413	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578238	0.86[EUR][1000 genomes]
rs205542	0.86[EUR][1000 genomes]
rs2416881	0.86[EUR][1000 genomes]
rs2466582	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2541122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541129	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724608	0.86[EUR][1000 genomes]
rs2724649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856316	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2908839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4503633	0.86[EUR][1000 genomes]
rs74062381	1.00[EUR][1000 genomes]
rs74062383	0.86[EUR][1000 genomes]
rs759485	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs928949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971751	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11812200-11832600	Weak transcription	A549	lung
2	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:11814800-11826600	Weak transcription	Osteobl	bone
6	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:11815000-11826600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:11815000-11836800	Weak transcription	NHEK	skin
9	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
11	chr12:11815200-11837800	Weak transcription	NH-A	brain
12	chr12:11815400-11825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:11816400-11826600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:11817200-11827000	Weak transcription	HSMM	muscle
16	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:11818000-11827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:11818200-11825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:11818600-11826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:11818600-11826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:11819400-11826400	Weak transcription	NHLF	lung
22	chr12:11819600-11828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:11820200-11825800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:11820200-11827000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
26	chr12:11820400-11828800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:11821400-11828200	Genic enhancers	GM12878-XiMat	blood
28	chr12:11821600-11830200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:11822000-11825800	Weak transcription	Gastric	stomach
30	chr12:11822000-11827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:11822000-11829600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:11822000-11850000	Weak transcription	HMEC	breast
33	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:11822600-11825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:11822600-11826600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:11822600-11826800	Weak transcription	Primary B cells from cord blood	blood
37	chr12:11822600-11829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:11823000-11825800	Weak transcription	Lung	lung
39	chr12:11823600-11829800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:11824200-11826000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:11824200-11826000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:11824200-11829000	Enhancers	Fetal Thymus	thymus
43	chr12:11824600-11826400	Enhancers	Fetal Muscle Leg	muscle
44	chr12:11824600-11827200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:11824600-11828800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:11824600-11829800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:11824800-11826000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:11824800-11826200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:11824800-11827800	Enhancers	Brain Substantia Nigra	brain
50	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain

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