Variant report

Variant	rs7960015
Chromosome Location	chr12:51145194-51145195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51139833..51142422-chr12:51145085..51147919,2	MCF-7	breast:
2	chr12:51144572..51146832-chr12:51148716..51151527,2	K562	blood:
3	chr12:51144406..51146015-chr12:51154196..51156059,2	K562	blood:
4	chr12:51143226..51146888-chr12:51156078..51159984,4	K562	blood:
5	chr12:51138457..51146051-chr12:51156159..51159814,11	MCF-7	breast:
6	chr12:51139062..51150273-chr12:51151292..51159466,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000271018	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10735827	0.83[EUR][1000 genomes]
rs10747586	1.00[ASN][1000 genomes]
rs10747592	0.83[EUR][1000 genomes]
rs10783377	1.00[ASN][1000 genomes]
rs10783380	1.00[ASN][1000 genomes]
rs10783388	0.83[EUR][1000 genomes]
rs10876046	1.00[ASN][1000 genomes]
rs1109726	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609231	1.00[ASN][1000 genomes]
rs11609941	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611288	1.00[ASN][1000 genomes]
rs11832315	1.00[ASN][1000 genomes]
rs12821270	1.00[ASN][1000 genomes]
rs1561422	0.82[EUR][1000 genomes]
rs2250751	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250752	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251603	1.00[ASN][1000 genomes]
rs2252589	1.00[ASN][1000 genomes]
rs2554862	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684889	1.00[ASN][1000 genomes]
rs2684898	1.00[ASN][1000 genomes]
rs2684900	1.00[ASN][1000 genomes]
rs2684901	1.00[ASN][1000 genomes]
rs2700479	1.00[ASN][1000 genomes]
rs2700480	1.00[ASN][1000 genomes]
rs2700482	1.00[ASN][1000 genomes]
rs2700485	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[ASN][1000 genomes]
rs2731440	1.00[ASN][1000 genomes]
rs2731442	1.00[ASN][1000 genomes]
rs2731443	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939211	1.00[ASN][1000 genomes]
rs56089074	1.00[ASN][1000 genomes]
rs56104942	1.00[ASN][1000 genomes]
rs57602501	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729468	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580769	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66597435	1.00[ASN][1000 genomes]
rs66644594	1.00[ASN][1000 genomes]
rs66838741	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66947035	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67218241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67356137	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67934435	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68171620	1.00[ASN][1000 genomes]
rs7135837	1.00[ASN][1000 genomes]
rs7305655	1.00[ASN][1000 genomes]
rs7307788	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307815	1.00[ASN][1000 genomes]
rs7487150	0.81[EUR][1000 genomes]
rs7958114	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7964642	0.81[EUR][1000 genomes]
rs7968440	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976942	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977064	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977690	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.82[AMR][1000 genomes]
rs7978559	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979165	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829112	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829114	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829115	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865489	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7960015	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
5	chr12:51121400-51145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:51126600-51145400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:51126600-51146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:51130000-51145400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:51132800-51145400	Strong transcription	Primary hematopoietic stem cells	blood
10	chr12:51135800-51145200	Weak transcription	Fetal Heart	heart
11	chr12:51135800-51146000	Weak transcription	NHDF-Ad	bronchial
12	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
13	chr12:51138800-51146000	Weak transcription	NHLF	lung
14	chr12:51139000-51145400	Weak transcription	Small Intestine	intestine
15	chr12:51139000-51146600	Weak transcription	Colonic Mucosa	Colon
16	chr12:51139000-51147200	Weak transcription	Gastric	stomach
17	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:51139200-51148600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:51139600-51146400	Weak transcription	Hela-S3	cervix
20	chr12:51139600-51156000	Weak transcription	A549	lung
21	chr12:51139800-51147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:51140400-51147400	Weak transcription	Esophagus	oesophagus
23	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:51140600-51147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:51141400-51147000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:51141600-51147000	Weak transcription	Fetal Brain Male	brain
27	chr12:51141600-51149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:51141800-51145400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
31	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:51142000-51145600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:51142000-51145800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:51142000-51146000	Weak transcription	Right Ventricle	heart
35	chr12:51142000-51146600	Weak transcription	Aorta	Aorta
36	chr12:51142000-51147000	Weak transcription	Dnd41	blood
37	chr12:51142000-51147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:51142000-51147400	Weak transcription	Ovary	ovary
39	chr12:51142000-51156200	Weak transcription	HMEC	breast
40	chr12:51142000-51156200	Weak transcription	Osteobl	bone
41	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
42	chr12:51142200-51145800	Weak transcription	HSMMtube	muscle
43	chr12:51142200-51146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:51142200-51146600	Weak transcription	Brain Angular Gyrus	brain
45	chr12:51142200-51147400	Weak transcription	Brain Substantia Nigra	brain
46	chr12:51142200-51147600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--

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