Variant report

Variant	rs1316700
Chromosome Location	chr8:66694119-66694120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66688789..66692346-chr8:66692358..66695249,3	MCF-7	breast:
2	chr8:66691641..66695119-chr8:66697675..66699405,3	K562	blood:
3	chr8:66687566..66690238-chr8:66691841..66694498,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10504392	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2063685	0.92[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs57463822	0.88[EUR][1000 genomes]
rs59198392	1.00[ASN][1000 genomes]
rs6472221	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472222	0.92[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs6472224	0.90[ASN][1000 genomes]
rs6472225	0.81[GIH][hapmap]
rs6472226	0.88[GIH][hapmap]
rs6472228	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs66537647	0.86[ASN][1000 genomes]
rs66609388	1.00[ASN][1000 genomes]
rs67813477	0.90[ASN][1000 genomes]
rs6984402	0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7000292	0.81[EUR][1000 genomes]
rs7014676	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs72650509	0.81[ASN][1000 genomes]
rs72666552	0.90[ASN][1000 genomes]
rs7828699	0.81[GIH][hapmap]
rs7839014	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs974149	0.81[GIH][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1316700	DNAJC5B	cis	lymphoblastoid	seeQTL
rs1316700	PDE7A	cis	parietal	SCAN
rs1316700	MTFR1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66647800-66695200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:66674200-66695000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:66678600-66701400	Weak transcription	Ovary	ovary
4	chr8:66686000-66694400	ZNF genes & repeats	GM12878-XiMat	blood
5	chr8:66687000-66694200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:66687200-66694200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:66688200-66694200	Strong transcription	Fetal Lung	lung
8	chr8:66688200-66706200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:66688600-66695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:66689000-66694800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr8:66689200-66694200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:66689200-66695400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:66689200-66695600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:66689200-66707200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:66689600-66694800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:66689800-66694200	Strong transcription	Brain Substantia Nigra	brain
17	chr8:66690400-66694200	Strong transcription	Fetal Intestine Large	intestine
18	chr8:66690600-66702400	Weak transcription	Esophagus	oesophagus
19	chr8:66690800-66694200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:66690800-66694600	Strong transcription	Fetal Brain Female	brain
21	chr8:66690800-66694800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:66690800-66695200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:66690800-66695600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:66690800-66696400	Strong transcription	Fetal Thymus	thymus
25	chr8:66690800-66697600	Weak transcription	Small Intestine	intestine
26	chr8:66691000-66694200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:66691000-66694400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:66691000-66694400	Weak transcription	Osteobl	bone
29	chr8:66691000-66695400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:66691000-66695600	Weak transcription	HUVEC	blood vessel
31	chr8:66691000-66696000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:66691000-66696000	Strong transcription	Thymus	Thymus
33	chr8:66691000-66702200	Weak transcription	Spleen	Spleen
34	chr8:66691000-66702400	Weak transcription	Colonic Mucosa	Colon
35	chr8:66691200-66694800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:66691200-66699000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:66691200-66702000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:66691400-66694600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:66691400-66695000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:66691400-66695200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:66691400-66695600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:66691600-66696400	Weak transcription	Fetal Brain Male	brain
43	chr8:66691600-66699400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:66691600-66699400	Weak transcription	Fetal Kidney	kidney
45	chr8:66692200-66697000	Strong transcription	Dnd41	blood
46	chr8:66692200-66699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:66692600-66694200	Strong transcription	HepG2	liver
48	chr8:66692600-66694800	Strong transcription	Adipose Nuclei	Adipose
49	chr8:66692800-66694200	ZNF genes & repeats	HMEC	breast
50	chr8:66692800-66695200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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