Variant report

Variant	rs74062364
Chromosome Location	chr12:11826420-11826421
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	chr12:11823719..11826354-chr12:11826397..11829138,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11054420	1.00[EUR][1000 genomes]
rs12296206	1.00[EUR][1000 genomes]
rs1641623	1.00[EUR][1000 genomes]
rs55959071	1.00[EUR][1000 genomes]
rs58160049	1.00[EUR][1000 genomes]
rs59624591	1.00[EUR][1000 genomes]
rs59692713	1.00[EUR][1000 genomes]
rs60499077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61366849	1.00[EUR][1000 genomes]
rs7294334	1.00[EUR][1000 genomes]
rs7305726	1.00[EUR][1000 genomes]
rs7306490	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308344	1.00[EUR][1000 genomes]
rs73288732	1.00[EUR][1000 genomes]
rs73288733	1.00[EUR][1000 genomes]
rs73288736	1.00[EUR][1000 genomes]
rs73288738	1.00[EUR][1000 genomes]
rs73288740	1.00[EUR][1000 genomes]
rs73288746	1.00[EUR][1000 genomes]
rs73288748	1.00[EUR][1000 genomes]
rs73288753	1.00[EUR][1000 genomes]
rs73288756	1.00[EUR][1000 genomes]
rs73288757	1.00[EUR][1000 genomes]
rs73288764	1.00[EUR][1000 genomes]
rs74060969	1.00[EUR][1000 genomes]
rs74061000	1.00[EUR][1000 genomes]
rs74062355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74062357	1.00[EUR][1000 genomes]
rs7975230	1.00[EUR][1000 genomes]
rs7975331	1.00[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:113 , 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	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:11816400-11826600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:11817200-11827000	Weak transcription	HSMM	muscle
15	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:11818000-11827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:11818600-11826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:11818600-11826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:11819600-11828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:11820200-11827000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:11820200-11841000	Weak transcription	Fetal Intestine Small	intestine
22	chr12:11820400-11828800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:11821400-11828200	Genic enhancers	GM12878-XiMat	blood
24	chr12:11821600-11830200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:11822000-11827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:11822000-11829600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:11822000-11850000	Weak transcription	HMEC	breast
28	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:11822600-11826600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:11822600-11826800	Weak transcription	Primary B cells from cord blood	blood
31	chr12:11822600-11829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:11823600-11829800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:11824200-11829000	Enhancers	Fetal Thymus	thymus
34	chr12:11824600-11827200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:11824600-11828800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:11824600-11829800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:11824800-11827800	Enhancers	Brain Substantia Nigra	brain
38	chr12:11824800-11831200	Enhancers	Brain Hippocampus Middle	brain
39	chr12:11825000-11827000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:11825000-11827400	Enhancers	Liver	Liver
41	chr12:11825000-11828200	Enhancers	Dnd41	blood
42	chr12:11825000-11828600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:11825000-11829400	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:11825000-11830200	Enhancers	Spleen	Spleen
45	chr12:11825200-11827000	Enhancers	Brain Angular Gyrus	brain
46	chr12:11825200-11827400	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:11825200-11828400	Enhancers	Fetal Lung	lung
48	chr12:11825200-11828800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:11825200-11830000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:11825400-11826600	Enhancers	Psoas Muscle	Psoas

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