Variant report

Variant	rs1147478
Chromosome Location	chr14:69614979-69614980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69614281..69621283-chr14:69656459..69660724,14	MCF-7	breast:
2	chr14:69609955..69612988-chr14:69613460..69616527,3	K562	blood:
3	chr14:69614483..69616460-chr14:70174912..70176900,2	MCF-7	breast:
4	chr14:69614082..69618294-chr14:69668784..69671867,3	MCF-7	breast:
5	chr14:69596677..69600515-chr14:69612349..69615880,3	K562	blood:

Variant related genes	Relation type
ENSG00000206768	Chromatin interaction
ENSG00000258957	Chromatin interaction
ENSG00000081177	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10133226	0.84[EUR][1000 genomes]
rs10133341	0.85[EUR][1000 genomes]
rs10139153	0.80[EUR][1000 genomes]
rs10139274	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs10150493	0.80[EUR][1000 genomes]
rs11158796	0.80[EUR][1000 genomes]
rs1147479	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848820	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1275405	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275409	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275410	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275411	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275412	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1275418	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275420	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1464307	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1710988	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17836065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890943	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890944	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs1959759	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965449	0.92[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014607	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090711	0.80[EUR][1000 genomes]
rs2090712	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2096023	0.83[CEU][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs2185490	0.83[CEU][hapmap]
rs2331953	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2331954	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35632281	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3742899	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs4243633	0.83[CEU][hapmap]
rs45469294	1.00[ASN][1000 genomes]
rs4899284	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899289	0.82[CEU][hapmap]
rs4899292	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902699	0.83[CEU][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs4902702	0.92[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902704	0.83[CEU][hapmap]
rs61741172	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980269	0.80[EUR][1000 genomes]
rs61981647	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981648	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61981649	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573875	0.83[CEU][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs6573877	0.81[EUR][1000 genomes]
rs7148953	0.85[EUR][1000 genomes]
rs7150127	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151090	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7151331	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs7151827	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157772	0.92[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs7158145	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7159186	0.83[CEU][hapmap]
rs761898	0.84[TSI][hapmap]
rs8007859	0.83[CEU][hapmap]
rs8017744	0.86[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1147478	ADAM21	cis	parietal	SCAN
rs1147478	RAD51L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69583200-69618000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:69596600-69615000	Weak transcription	Thymus	Thymus
3	chr14:69596600-69615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:69596600-69615400	Weak transcription	Placenta	Placenta
5	chr14:69596600-69616400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:69596600-69617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:69600000-69617000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:69600400-69616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:69600400-69616800	Weak transcription	Fetal Brain Male	brain
10	chr14:69600600-69617800	Weak transcription	Aorta	Aorta
11	chr14:69601000-69615600	Weak transcription	HMEC	breast
12	chr14:69601000-69615800	Weak transcription	A549	lung
13	chr14:69601000-69616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69601000-69617000	Weak transcription	Ovary	ovary
15	chr14:69601000-69618000	Weak transcription	Esophagus	oesophagus
16	chr14:69601400-69616000	Weak transcription	Hela-S3	cervix
17	chr14:69604800-69616800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:69605000-69616600	Weak transcription	Brain Germinal Matrix	brain
19	chr14:69605200-69616800	Weak transcription	Small Intestine	intestine
20	chr14:69605200-69617400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:69605400-69615000	Weak transcription	HSMMtube	muscle
22	chr14:69605400-69617000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:69605400-69617400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:69605400-69617600	Weak transcription	Brain Substantia Nigra	brain
25	chr14:69605600-69615400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:69605600-69615400	Weak transcription	NH-A	brain
27	chr14:69605600-69616000	Weak transcription	Fetal Heart	heart
28	chr14:69605600-69616800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:69605600-69617600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:69605600-69617800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:69605800-69615400	Weak transcription	Left Ventricle	heart
32	chr14:69605800-69615400	Weak transcription	NHEK	skin
33	chr14:69605800-69617000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:69605800-69617400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:69605800-69617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:69605800-69617600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:69605800-69617600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:69606000-69615600	Weak transcription	NHLF	lung
39	chr14:69606000-69615800	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:69606000-69617400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:69606200-69615400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:69606200-69616800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:69606200-69616800	Weak transcription	Psoas Muscle	Psoas
44	chr14:69606200-69617400	Weak transcription	Brain Anterior Caudate	brain
45	chr14:69606400-69615600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:69606600-69618000	Weak transcription	Lung	lung
47	chr14:69607200-69617200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:69607600-69616000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:69609400-69616200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:69609400-69616400	Weak transcription	Right Ventricle	heart

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