Variant report

Variant	rs7144478
Chromosome Location	chr14:70881167-70881168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10133282	0.90[ASN][1000 genomes]
rs10136230	0.82[ASN][1000 genomes]
rs10139500	0.96[ASN][1000 genomes]
rs10142102	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs10144818	0.94[ASN][1000 genomes]
rs10148586	0.83[ASN][1000 genomes]
rs10150707	0.82[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1044527	0.81[JPT][hapmap]
rs10873230	0.82[ASN][1000 genomes]
rs11158861	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11623974	0.80[JPT][hapmap]
rs11626325	0.86[AFR][1000 genomes]
rs11844845	0.84[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12588623	0.88[ASN][1000 genomes]
rs12589762	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12887715	0.86[AFR][1000 genomes]
rs12889741	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894199	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1959485	0.95[CHB][hapmap];0.88[GIH][hapmap]
rs2332384	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2332417	0.82[ASN][1000 genomes]
rs2877657	1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2877669	0.82[ASN][1000 genomes]
rs28830860	0.83[ASN][1000 genomes]
rs3759774	0.81[JPT][hapmap]
rs4541006	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899354	0.95[CHB][hapmap]
rs4902815	1.00[ASW][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.99[ASN][1000 genomes]
rs55728800	0.88[ASN][1000 genomes]
rs56977342	0.83[ASN][1000 genomes]
rs57495576	0.83[ASN][1000 genomes]
rs57535767	0.82[ASN][1000 genomes]
rs58186506	0.96[ASN][1000 genomes]
rs59788049	0.93[ASN][1000 genomes]
rs61979082	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573949	0.82[ASN][1000 genomes]
rs66886776	0.95[ASN][1000 genomes]
rs67203490	0.83[ASN][1000 genomes]
rs7141636	0.93[ASN][1000 genomes]
rs7148445	0.83[ASN][1000 genomes]
rs8005522	0.82[ASN][1000 genomes]
rs8014179	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs8014459	0.82[ASN][1000 genomes]
rs8015005	0.86[JPT][hapmap]
rs9323536	0.83[ASN][1000 genomes]
rs9630398	0.82[ASN][1000 genomes]
rs9652366	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7144478	MED6	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70827200-70882600	Weak transcription	A549	lung
2	chr14:70827200-70882600	Weak transcription	NH-A	brain
3	chr14:70833800-70882400	Weak transcription	NHDF-Ad	bronchial
4	chr14:70838600-70882400	Weak transcription	Hela-S3	cervix
5	chr14:70840200-70882400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:70840200-70882600	Weak transcription	Colonic Mucosa	Colon
7	chr14:70840800-70882800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:70841000-70882600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:70842600-70882400	Weak transcription	Fetal Kidney	kidney
10	chr14:70848400-70882400	Weak transcription	Brain Angular Gyrus	brain
11	chr14:70848400-70882800	Weak transcription	Psoas Muscle	Psoas
12	chr14:70848400-70883000	Weak transcription	HSMMtube	muscle
13	chr14:70848600-70882400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:70848600-70882800	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:70848800-70882600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:70853600-70882400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:70854800-70882400	Weak transcription	Brain Anterior Caudate	brain
18	chr14:70855200-70882400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:70856000-70882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:70859000-70882800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:70865000-70882400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:70865000-70882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:70865200-70882800	Weak transcription	Aorta	Aorta
24	chr14:70865400-70882600	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:70865800-70882600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:70866000-70882600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:70866400-70881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:70866400-70882200	Weak transcription	Fetal Brain Female	brain
29	chr14:70866400-70882400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:70866400-70883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:70866400-70883000	Weak transcription	Fetal Thymus	thymus
32	chr14:70866400-70883000	Weak transcription	Thymus	Thymus
33	chr14:70866400-70883000	Weak transcription	Spleen	Spleen
34	chr14:70866400-70883200	Weak transcription	Gastric	stomach
35	chr14:70866600-70882600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:70866600-70882600	Weak transcription	Brain Germinal Matrix	brain
37	chr14:70866600-70882800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:70866600-70883000	Weak transcription	Lung	lung
39	chr14:70866800-70882400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:70866800-70882400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:70866800-70882600	Weak transcription	Right Ventricle	heart
42	chr14:70869200-70883000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:70869400-70883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:70870000-70882600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:70870200-70882400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:70870200-70882400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:70870600-70882400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:70870600-70882400	Weak transcription	NHEK	skin
49	chr14:70870600-70882600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:70870800-70882400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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