Variant report

Variant	rs7316418
Chromosome Location	chr12:121927603-121927604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121927369..121930079-chr12:122237383..122239060,2	K562	blood:
2	chr12:121904083..121907294-chr12:121925168..121928223,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11065564	0.83[YRI][hapmap]
rs11065592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065593	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065596	0.93[EUR][1000 genomes]
rs11065598	0.81[CHD][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11065602	0.86[JPT][hapmap]
rs11065604	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11832924	0.82[YRI][hapmap]
rs11837997	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13754	0.83[YRI][hapmap]
rs2293462	0.83[YRI][hapmap]
rs3751134	0.83[YRI][hapmap]
rs4640009	0.83[YRI][hapmap]
rs57917116	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60437938	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6489814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489815	0.84[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489816	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7307400	0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309786	0.86[JPT][hapmap]
rs7311543	0.83[YRI][hapmap]
rs7974072	0.82[YRI][hapmap]
rs7976858	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8462	0.83[YRI][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7316418	FBXL10	Cis_1M	lymphoblastoid	RTeQTL
rs7316418	RNF34	cis	multi-tissue	Pritchard
rs7316418	NOS1	cis	parietal	SCAN
rs7316418	MLEC	cis	cerebellum	SCAN
rs7316418	RNF34	cis	Liver	GTEx
rs7316418	GCN1L1	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121906000-121937800	Weak transcription	Aorta	Aorta
2	chr12:121906000-121938000	Weak transcription	Left Ventricle	heart
3	chr12:121906200-121928200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:121906200-121938000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:121906400-121929000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121906400-121933400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:121906400-121933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:121906400-121933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:121906600-121928000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:121906600-121938000	Weak transcription	NHDF-Ad	bronchial
11	chr12:121908400-121928000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:121908800-121931400	Weak transcription	Fetal Lung	lung
13	chr12:121910600-121928600	Weak transcription	Fetal Kidney	kidney
14	chr12:121911400-121946400	Weak transcription	Pancreas	Pancrea
15	chr12:121913000-121938000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:121915000-121927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:121915000-121928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:121915000-121938000	Weak transcription	Osteobl	bone
19	chr12:121915800-121928600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:121918000-121927800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:121918000-121928000	Weak transcription	Hela-S3	cervix
22	chr12:121918200-121927800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:121918200-121938000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:121918400-121928000	Weak transcription	Esophagus	oesophagus
25	chr12:121919000-121927800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:121919000-121928400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:121919000-121937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:121919800-121938000	Weak transcription	Ovary	ovary
29	chr12:121921400-121928200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:121922400-121927800	Weak transcription	Dnd41	blood
31	chr12:121923200-121927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:121924600-121928400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:121924600-121946600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:121925200-121928200	Strong transcription	Fetal Intestine Small	intestine
35	chr12:121925200-121936800	Strong transcription	Fetal Stomach	stomach
36	chr12:121925600-121938000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:121925600-121943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121926000-121928200	Weak transcription	Placenta	Placenta
39	chr12:121926000-121946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:121926200-121927800	Weak transcription	NHLF	lung
41	chr12:121926400-121938000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:121926400-121938000	Weak transcription	HSMMtube	muscle
43	chr12:121926600-121932000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:121926600-121936400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:121926800-121934200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:121927000-121928000	Weak transcription	Brain Anterior Caudate	brain
47	chr12:121927200-121929200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:121927200-121932200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:121927400-121927800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:121927400-121927800	Strong transcription	Lung	lung

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