Variant report

Variant	rs13130626
Chromosome Location	chr4:125622091-125622092
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125609508..125611560-chr4:125621835..125624675,2	K562	blood:
2	chr4:125620408..125622143-chr4:125631929..125634116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10006577	0.85[ASN][1000 genomes]
rs10006893	0.85[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap];0.85[ASN][1000 genomes]
rs10013174	0.82[ASN][1000 genomes]
rs10018651	0.85[ASN][1000 genomes]
rs10028864	0.87[ASN][1000 genomes]
rs1015968	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1016382	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs1016383	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518442	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331436	0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs13104292	0.85[ASN][1000 genomes]
rs13107141	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13110120	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110982	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117832	0.85[ASN][1000 genomes]
rs13144437	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150707	0.91[ASN][1000 genomes]
rs1472290	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495126	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495127	0.85[ASN][1000 genomes]
rs1498024	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008475	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008478	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874748	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995135	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2036204	0.86[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.87[ASN][1000 genomes]
rs220738	0.85[ASN][1000 genomes]
rs2242378	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399027	0.87[ASN][1000 genomes]
rs3172524	0.92[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.85[ASN][1000 genomes]
rs34348208	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748024	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34877613	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35053443	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35180555	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35282937	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35333384	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35463553	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35958270	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36177260	0.85[ASN][1000 genomes]
rs3733471	0.85[ASN][1000 genomes]
rs4833999	0.87[ASN][1000 genomes]
rs4834000	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902532	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59841071	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6534448	0.85[ASN][1000 genomes]
rs6815682	0.91[ASN][1000 genomes]
rs6816263	0.92[CHB][hapmap];0.84[JPT][hapmap];0.97[ASN][1000 genomes]
rs6849375	0.91[ASN][1000 genomes]
rs6849813	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307543	0.85[ASN][1000 genomes]
rs9307544	0.85[ASN][1000 genomes]
rs9999425	0.84[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13130626	ANKRD50	cis	parietal	SCAN
rs13130626	NUDT6	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125593000-125631200	Weak transcription	Esophagus	oesophagus
2	chr4:125593400-125629800	Weak transcription	Aorta	Aorta
3	chr4:125593400-125629800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:125593400-125631200	Weak transcription	Thymus	Thymus
5	chr4:125593600-125629600	Weak transcription	HSMMtube	muscle
6	chr4:125593600-125631000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:125594200-125625400	Weak transcription	Hela-S3	cervix
8	chr4:125594200-125631200	Weak transcription	Fetal Thymus	thymus
9	chr4:125597400-125631200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:125599200-125627800	Weak transcription	Placenta	Placenta
11	chr4:125606000-125624400	Weak transcription	Fetal Brain Male	brain
12	chr4:125606000-125631000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:125606200-125629600	Weak transcription	K562	blood
14	chr4:125607800-125631200	Weak transcription	Left Ventricle	heart
15	chr4:125608200-125629800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:125611400-125629800	Weak transcription	Fetal Kidney	kidney
17	chr4:125611600-125632400	Weak transcription	Stomach Mucosa	stomach
18	chr4:125616000-125625000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:125616000-125625400	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:125616600-125631200	Weak transcription	Lung	lung
21	chr4:125616800-125624000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:125616800-125625400	Weak transcription	Liver	Liver
23	chr4:125616800-125629600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:125616800-125631200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:125616800-125631200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:125617000-125630200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:125617800-125629600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:125618600-125622800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:125618800-125628800	Weak transcription	Dnd41	blood
30	chr4:125619000-125624400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:125619000-125627000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:125619200-125627200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:125619200-125629600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:125619400-125622400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:125619400-125622600	Weak transcription	Osteobl	bone
36	chr4:125619400-125622800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:125619400-125624600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:125619400-125627800	Weak transcription	NHDF-Ad	bronchial
39	chr4:125619400-125628200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:125619600-125627400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:125619800-125625000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:125620000-125622200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:125620000-125624600	Weak transcription	HepG2	liver
44	chr4:125620000-125629800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:125620000-125631400	Weak transcription	Brain Anterior Caudate	brain
46	chr4:125620400-125623400	Weak transcription	Fetal Brain Female	brain
47	chr4:125620400-125630200	Weak transcription	Adipose Nuclei	Adipose
48	chr4:125620600-125623600	Weak transcription	Primary B cells from cord blood	blood
49	chr4:125620600-125629600	Weak transcription	NHLF	lung
50	chr4:125621000-125622200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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