Variant report

Variant	rs10142102
Chromosome Location	chr14:70805624-70805625
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	chr14:70805368..70808326-chr14:70817743..70821217,3	MCF-7	breast:
2	chr14:70798672..70801263-chr14:70804505..70807177,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10133282	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10136230	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139500	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10144588	0.81[EUR][1000 genomes]
rs10144818	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144926	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150707	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10873230	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11844845	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12588623	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12589335	0.90[JPT][hapmap]
rs12589762	0.81[ASN][1000 genomes]
rs12889741	0.83[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1959485	0.83[CHB][hapmap]
rs2332415	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2332417	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2877657	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2877669	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28830860	0.95[ASN][1000 genomes]
rs4048519	1.00[EUR][1000 genomes]
rs4899354	0.83[CHB][hapmap]
rs4902815	0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs55728800	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56977342	0.96[ASN][1000 genomes]
rs57495576	0.96[ASN][1000 genomes]
rs57535767	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58186506	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66886776	0.81[ASN][1000 genomes]
rs67203490	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7141636	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141694	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144478	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7148445	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005522	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8014179	0.83[CHB][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014252	0.80[MEX][hapmap]
rs8014459	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016520	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9323536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630398	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9652366	0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10142102	SLC8A3	cis	cerebellum	SCAN
rs10142102	ADAM20	cis	cerebellum	SCAN
rs10142102	MED6	cis	cerebellum	SCAN
rs10142102	ZFYVE1	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
3	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
4	chr14:70792800-70825200	Weak transcription	NH-A	brain
5	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:70799800-70806000	Weak transcription	Gastric	stomach
8	chr14:70799800-70806200	Weak transcription	Aorta	Aorta
9	chr14:70799800-70810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:70799800-70811200	Weak transcription	Left Ventricle	heart
11	chr14:70799800-70811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:70799800-70811400	Weak transcription	Lung	lung
13	chr14:70799800-70811600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:70799800-70812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:70800000-70809200	Weak transcription	Osteobl	bone
16	chr14:70800000-70811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:70800000-70825000	Weak transcription	HSMM	muscle
18	chr14:70800600-70821000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:70800800-70806200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:70800800-70806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:70800800-70815000	Weak transcription	Right Ventricle	heart
22	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:70801200-70805800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:70801200-70806200	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:70801200-70806200	Weak transcription	Psoas Muscle	Psoas
26	chr14:70801200-70809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:70801200-70810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:70801200-70810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:70801200-70811200	Weak transcription	Thymus	Thymus
30	chr14:70801200-70811400	Weak transcription	Esophagus	oesophagus
31	chr14:70801200-70811600	Weak transcription	Pancreas	Pancrea
32	chr14:70801200-70815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:70801200-70815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:70801200-70822000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:70801400-70811400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:70801400-70811600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:70801400-70812600	Weak transcription	HepG2	liver
40	chr14:70801400-70813000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:70801600-70806200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:70801600-70806200	Weak transcription	Fetal Kidney	kidney
43	chr14:70801600-70806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:70801600-70810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:70801800-70805800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:70801800-70809200	Weak transcription	Liver	Liver
47	chr14:70801800-70810200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
49	chr14:70802000-70805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:70802000-70806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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