Variant report

Variant	rs11065140
Chromosome Location	chr12:120929541-120929542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120906986..120909026-chr12:120929179..120931472,2	MCF-7	breast:
2	chr12:120929051..120930861-chr12:120970959..120973341,2	K562	blood:
3	chr12:120927850..120930871-chr12:120932649..120935269,4	MCF-7	breast:
4	chr12:120923821..120925636-chr12:120929487..120931535,2	K562	blood:
5	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
6	chr12:120728418..120730786-chr12:120928441..120930055,2	K562	blood:
7	chr12:120729381..120731449-chr12:120928979..120932079,3	K562	blood:
8	chr12:120926047..120931011-chr12:120931447..120937108,13	K562	blood:
9	chr12:120637777..120639992-chr12:120928892..120930956,2	K562	blood:
10	chr12:120923129..120925113-chr12:120928478..120931183,2	MCF-7	breast:
11	chr12:120919546..120923811-chr12:120926379..120930446,4	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COQ5-1	chr12:120928131-120929913	ENSG00000248008
2	lnc-COQ5-1	chr12:120927721-120929913	NONHSAT031176
3	lnc-COQ5-1	chr12:120928141-120929913	NR_038854
4	lnc-COQ5-1	chr12:120928131-120929913	ENSG00000248008

No data

Variant related genes	Relation type
ENSG00000111786	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10789	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065142	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11548262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11608807	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11609119	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11611781	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611814	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11612519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11613214	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11614224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11615264	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11615719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16950293	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16950305	1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2280168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35696148	0.83[ASN][1000 genomes]
rs3742049	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3759402	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3817301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3829291	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4102203	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs4439575	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57646360	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59088579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59201986	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60162888	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490292	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66840048	0.86[ASN][1000 genomes]
rs7027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134710	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs719449	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7296473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297861	0.88[ASN][1000 genomes]
rs7299954	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403923	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73403947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73403968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403975	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73405628	0.88[ASN][1000 genomes]
rs7957424	0.96[YRI][hapmap]
rs7961895	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7962410	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964008	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979366	0.82[YRI][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11065140	GATC	cis	parietal	SCAN
rs11065140	GATC	cis	cerebellum	SCAN
rs11065140	POP5	cis	parietal	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
2	chr12:120908400-120932400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:120908400-120932400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:120908600-120932800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:120908600-120932800	Weak transcription	Adipose Nuclei	Adipose
6	chr12:120908600-120932800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:120908600-120932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:120908600-120933000	Weak transcription	Thymus	Thymus
9	chr12:120911000-120932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:120912800-120932600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:120913000-120932600	Weak transcription	NH-A	brain
12	chr12:120913200-120932800	Weak transcription	HSMM	muscle
13	chr12:120913800-120932400	Weak transcription	HMEC	breast
14	chr12:120914400-120932600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:120916400-120932800	Weak transcription	Liver	Liver
16	chr12:120918200-120933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:120918400-120932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:120919000-120933000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:120920200-120933000	Weak transcription	Right Ventricle	heart
20	chr12:120920800-120932800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:120921000-120932600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:120922600-120932400	Weak transcription	Hela-S3	cervix
23	chr12:120923800-120932800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:120923800-120933000	Weak transcription	Colonic Mucosa	Colon
25	chr12:120924400-120932400	Weak transcription	HepG2	liver
26	chr12:120924400-120932800	Weak transcription	Fetal Brain Male	brain
27	chr12:120924800-120932600	Weak transcription	GM12878-XiMat	blood
28	chr12:120925400-120929600	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:120925400-120929800	Strong transcription	Fetal Stomach	stomach
30	chr12:120925600-120932400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:120925600-120933000	Weak transcription	Gastric	stomach
32	chr12:120925800-120930400	Strong transcription	Fetal Intestine Small	intestine
33	chr12:120925800-120933000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:120926000-120929600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:120926000-120929800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:120926000-120932800	Weak transcription	Brain Substantia Nigra	brain
37	chr12:120926200-120930000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:120926200-120932600	Weak transcription	Osteobl	bone
39	chr12:120926400-120932600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:120926400-120932600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:120926400-120932600	Weak transcription	Brain Anterior Caudate	brain
42	chr12:120926400-120932800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:120926400-120933000	Weak transcription	Left Ventricle	heart
44	chr12:120926400-120933000	Weak transcription	Right Atrium	heart
45	chr12:120926400-120933000	Weak transcription	HSMMtube	muscle
46	chr12:120926800-120929800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:120926800-120930000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:120927000-120929800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:120927000-120932600	Weak transcription	HUVEC	blood vessel
50	chr12:120927000-120932800	Weak transcription	Muscle Satellite Cultured Cells	--

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