Variant report

Variant	rs74064614
Chromosome Location	chr12:12235569-12235570
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12234594..12235634-chr12:12486774..12487917,3	MCF-7	breast:
2	chr12:12234241..12235833-chr12:12419846..12422326,2	K562	blood:
3	chr12:12234847..12235643-chr12:12487037..12487905,2	MCF-7	breast:
4	chr12:12235468..12237125-chr12:12418350..12419956,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61733245	1.00[AMR][1000 genomes]
rs7137934	1.00[AMR][1000 genomes]
rs7297820	1.00[AMR][1000 genomes]
rs7297825	1.00[AMR][1000 genomes]
rs7305048	1.00[AMR][1000 genomes]
rs7311616	1.00[AMR][1000 genomes]
rs74062623	1.00[AMR][1000 genomes]
rs7959946	1.00[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12225200-12239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:12225400-12239000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:12225400-12239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:12225400-12239600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:12225600-12239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:12225800-12240200	Weak transcription	Fetal Stomach	stomach
8	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
9	chr12:12226800-12238200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:12229600-12238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:12230000-12238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:12231000-12239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:12231400-12238600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:12231400-12239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:12231600-12239200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:12232800-12240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
18	chr12:12233800-12236400	Enhancers	Fetal Intestine Large	intestine
19	chr12:12234000-12235800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:12234200-12235800	Enhancers	Stomach Mucosa	stomach
21	chr12:12234200-12236200	Enhancers	Fetal Intestine Small	intestine
22	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
23	chr12:12235000-12235800	Enhancers	K562	blood
24	chr12:12235200-12235600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:12235200-12235800	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:12235200-12236200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:12235200-12242000	Weak transcription	NHLF	lung
28	chr12:12235400-12235600	Enhancers	A549	lung
29	chr12:12235400-12236400	Enhancers	HepG2	liver
30	chr12:12235400-12239400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:12235400-12239800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:12235400-12243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:12235400-12244600	Weak transcription	Colonic Mucosa	Colon
34	chr12:12235400-12245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:12235400-12245200	Weak transcription	Pancreas	Pancrea
36	chr12:12235400-12260200	Weak transcription	Gastric	stomach
37	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--

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