Variant report

Variant	rs1316442
Chromosome Location	chr12:51114427-51114428
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51090780..51092871-chr12:51114293..51116509,2	MCF-7	breast:
2	chr12:51112860..51115560-chr12:51116645..51119309,2	K562	blood:
3	chr12:51112975..51115564-chr12:51117449..51119564,2	MCF-7	breast:
4	chr12:51114060..51116527-chr12:51116645..51118509,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10747583	0.86[AMR][1000 genomes]
rs10876045	0.84[AMR][1000 genomes]
rs10876055	0.86[AMR][1000 genomes]
rs10876059	0.86[AMR][1000 genomes]
rs10876066	0.86[AMR][1000 genomes]
rs10876069	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10876074	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169453	0.81[AMR][1000 genomes]
rs11169484	0.86[AMR][1000 genomes]
rs11169486	0.86[AMR][1000 genomes]
rs11169490	0.85[AMR][1000 genomes]
rs11169492	0.86[AMR][1000 genomes]
rs11169506	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11169523	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169524	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12307178	0.86[AMR][1000 genomes]
rs12372538	0.82[AMR][1000 genomes]
rs12425362	0.82[AMR][1000 genomes]
rs12427378	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12814717	0.86[AMR][1000 genomes]
rs12818741	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12825915	0.82[AMR][1000 genomes]
rs1316607	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13378012	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1967576	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2090851	0.95[ASN][1000 genomes]
rs2090852	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2139930	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2243571	0.91[ASN][1000 genomes]
rs2280503	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2684908	0.95[ASN][1000 genomes]
rs34553264	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3742062	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3935870	0.86[AMR][1000 genomes]
rs61699126	0.84[AMR][1000 genomes]
rs61926278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580761	0.99[ASN][1000 genomes]
rs7133160	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133687	0.82[AMR][1000 genomes]
rs7137845	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7298661	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298665	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7302435	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305375	0.88[ASN][1000 genomes]
rs7487429	0.86[AMR][1000 genomes]
rs7965652	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788075	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1316442	ATF1	cis	Artery Tibial	GTEx
rs1316442	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:51064000-51127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:51067400-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
9	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51074600-51139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:51079200-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51083400-51126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:51085600-51118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:51090600-51138400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:51093600-51128600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:51096000-51142000	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:51096200-51144600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:51098800-51128200	Strong transcription	Brain Germinal Matrix	brain
23	chr12:51099600-51117400	Weak transcription	Psoas Muscle	Psoas
24	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
25	chr12:51102000-51116800	Weak transcription	Small Intestine	intestine
26	chr12:51102600-51115000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:51102800-51115200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:51103000-51118400	Weak transcription	NHDF-Ad	bronchial
29	chr12:51103200-51114800	Weak transcription	NHLF	lung
30	chr12:51103600-51115000	Weak transcription	Gastric	stomach
31	chr12:51103800-51115000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:51105400-51133600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51108000-51120200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:51108200-51142200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:51108600-51114800	Weak transcription	Right Ventricle	heart
36	chr12:51109400-51114600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:51109400-51115000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:51109400-51117400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:51109400-51120400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:51109400-51124200	Weak transcription	Stomach Mucosa	stomach
41	chr12:51109600-51114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:51110600-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:51110800-51142200	Strong transcription	Lung	lung
45	chr12:51111000-51117400	Strong transcription	Liver	Liver
46	chr12:51111400-51116200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:51111400-51117000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:51111400-51120200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:51111400-51141600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:51111400-51141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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