Variant report

Variant	rs12422328
Chromosome Location	chr12:46583949-46583950
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	chr12:46580778..46584756-chr12:46658842..46662521,3	MCF-7	breast:
2	chr12:46566883..46569041-chr12:46582037..46584575,3	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10880935	0.80[ASN][1000 genomes]
rs11183394	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11608815	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11615731	0.88[ASN][1000 genomes]
rs12299972	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1444590	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289769	0.87[EUR][1000 genomes]
rs6582621	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7980700	0.80[ASN][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	nsv826360	chr12:46515374-46598243	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46569000-46589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:46572200-46588200	Weak transcription	HUVEC	blood vessel
3	chr12:46572400-46588200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:46572600-46589000	Weak transcription	Colonic Mucosa	Colon
5	chr12:46572600-46589000	Weak transcription	Dnd41	blood
6	chr12:46572800-46588800	Weak transcription	Aorta	Aorta
7	chr12:46574000-46589000	Weak transcription	Lung	lung
8	chr12:46574200-46586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:46574200-46588400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:46574200-46588400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:46574200-46588800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:46574400-46588800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:46574600-46584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:46574600-46588800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:46574600-46588800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:46574800-46588000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:46574800-46588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:46575000-46588400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:46577400-46588600	Weak transcription	Fetal Brain Female	brain
20	chr12:46577800-46588200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:46578000-46588600	Weak transcription	K562	blood
22	chr12:46578200-46584200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:46578800-46584200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:46578800-46584200	Strong transcription	Fetal Thymus	thymus
25	chr12:46579000-46584200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:46579000-46587400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:46579000-46594200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:46579200-46584000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:46579200-46589000	Weak transcription	Gastric	stomach
30	chr12:46579800-46589000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:46580200-46585200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:46580200-46588400	Weak transcription	Fetal Intestine Large	intestine
33	chr12:46580600-46584000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:46580600-46584200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:46580600-46587200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:46581000-46584200	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr12:46581200-46584200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:46581200-46589000	Weak transcription	Spleen	Spleen
39	chr12:46581400-46588200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:46581400-46588600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:46581400-46589200	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:46581400-46590000	Weak transcription	NH-A	brain
43	chr12:46581600-46588800	Weak transcription	Esophagus	oesophagus
44	chr12:46581600-46589000	Weak transcription	Pancreas	Pancrea
45	chr12:46581600-46589000	Weak transcription	Psoas Muscle	Psoas
46	chr12:46581600-46589000	Weak transcription	NHLF	lung
47	chr12:46581600-46589200	Weak transcription	Brain Angular Gyrus	brain
48	chr12:46581600-46589200	Weak transcription	Brain Substantia Nigra	brain
49	chr12:46581600-46589200	Weak transcription	Left Ventricle	heart
50	chr12:46581600-46589400	Weak transcription	Right Atrium	heart

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