Variant report

Variant	rs2898045
Chromosome Location	chr12:48342362-48342363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
2	chr12:48341963..48344998-chr12:48356854..48359642,3	MCF-7	breast:
3	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
4	chr12:48294459..48300703-chr12:48338090..48345573,18	MCF-7	breast:
5	chr12:48298743..48300449-chr12:48341597..48344109,2	K562	blood:
6	chr12:48231287..48231966-chr12:48342086..48342879,2	K562	blood:
7	chr12:48341895..48344737-chr12:48347947..48350941,3	K562	blood:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction
ENSG00000134291	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11168326	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12426835	0.83[AMR][1000 genomes]
rs2071356	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4237856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4307774	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4307775	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4344559	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4366552	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4417373	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4494361	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4547172	0.89[ASN][1000 genomes]
rs57624904	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740025	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
3	chr12:48337800-48343200	Weak transcription	Pancreas	Pancrea
4	chr12:48338400-48342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48338400-48348800	Enhancers	HMEC	breast
6	chr12:48338800-48343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:48339200-48342400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:48340400-48344200	Enhancers	Esophagus	oesophagus
9	chr12:48340800-48343000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:48340800-48343000	Weak transcription	NHDF-Ad	bronchial
11	chr12:48341000-48343000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:48341000-48343000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:48341000-48343000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48341000-48343000	Weak transcription	A549	lung
15	chr12:48341000-48343000	Weak transcription	Osteobl	bone
16	chr12:48341000-48343200	Weak transcription	Spleen	Spleen
17	chr12:48341000-48344200	Enhancers	HSMM	muscle
18	chr12:48341200-48342800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48341200-48342800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:48341200-48343400	Enhancers	NHEK	skin
21	chr12:48341200-48343800	Enhancers	HSMMtube	muscle
22	chr12:48341200-48347600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:48341400-48342800	Weak transcription	Colonic Mucosa	Colon
24	chr12:48341400-48343000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:48341400-48343000	Weak transcription	Fetal Intestine Small	intestine
26	chr12:48341400-48343200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:48341400-48343800	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:48341600-48342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:48341600-48342400	Weak transcription	Ovary	ovary
30	chr12:48341600-48342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:48341600-48342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:48341600-48342800	Weak transcription	Placenta	Placenta
33	chr12:48341600-48342800	Weak transcription	Hela-S3	cervix
34	chr12:48341600-48342800	Weak transcription	NHLF	lung
35	chr12:48341600-48343000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:48341600-48343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:48341600-48343400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:48341600-48343400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:48341800-48342800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:48341800-48343200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:48341800-48343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:48341800-48347600	Weak transcription	Fetal Lung	lung
43	chr12:48342000-48343200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:48342200-48343000	Enhancers	HepG2	liver
45	chr12:48342200-48343400	Enhancers	Fetal Muscle Leg	muscle
46	chr12:48342200-48343600	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:48342200-48346000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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