Variant report

Variant	rs9913443
Chromosome Location	chr17:60122458-60122459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60119138..60122577-chr17:60140563..60144130,3	K562	blood:
2	chr17:60121545..60124034-chr17:60127922..60130507,2	MCF-7	breast:
3	chr17:60120399..60123083-chr17:60125814..60127828,3	MCF-7	breast:
4	chr17:60121473..60123537-chr17:60141992..60145357,5	MCF-7	breast:
5	chr17:60117175..60120950-chr17:60121256..60123902,4	MCF-7	breast:
6	chr17:60121557..60123298-chr17:60127242..60129053,2	K562	blood:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11079464	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs11870331	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12450995	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28610444	0.90[AMR][1000 genomes]
rs28755966	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4968410	0.85[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4968466	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4968469	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968473	0.85[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4968477	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs6504077	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504079	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs686994	0.83[JPT][hapmap]
rs7207930	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7210061	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7218545	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7222262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8072101	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081805	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8081812	0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs9747976	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9889324	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];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9889676	0.82[CEU][hapmap];0.94[JPT][hapmap]
rs9901321	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9902812	0.94[ASW][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap]
rs9908352	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][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]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9913443	MED13	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
2	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
3	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
4	chr17:60098600-60139200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:60098800-60135000	Strong transcription	Dnd41	blood
6	chr17:60099000-60134200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:60099400-60131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:60099400-60139000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:60106000-60129800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:60108000-60141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:60108800-60139000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:60109000-60128600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr17:60109000-60141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:60110400-60123800	Weak transcription	Psoas Muscle	Psoas
15	chr17:60110600-60135200	Weak transcription	Aorta	Aorta
16	chr17:60110600-60139800	Weak transcription	Spleen	Spleen
17	chr17:60111000-60130600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:60111000-60133800	Weak transcription	Pancreas	Pancrea
19	chr17:60111200-60122600	Weak transcription	HMEC	breast
20	chr17:60111200-60123600	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:60111200-60129000	Weak transcription	Brain Angular Gyrus	brain
22	chr17:60111200-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:60111400-60122600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr17:60111400-60123000	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:60111400-60123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr17:60111400-60123800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:60111400-60123800	Weak transcription	Brain Substantia Nigra	brain
28	chr17:60111400-60124600	Weak transcription	NHLF	lung
29	chr17:60111400-60128200	Weak transcription	NHEK	skin
30	chr17:60111400-60138400	Weak transcription	Fetal Brain Male	brain
31	chr17:60111400-60140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:60111400-60141400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:60111600-60122600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr17:60111600-60125600	Weak transcription	Fetal Kidney	kidney
35	chr17:60111600-60126200	Weak transcription	NH-A	brain
36	chr17:60113000-60123400	Weak transcription	Fetal Heart	heart
37	chr17:60115000-60140000	Weak transcription	Gastric	stomach
38	chr17:60115200-60127800	Strong transcription	HepG2	liver
39	chr17:60115400-60124200	Strong transcription	GM12878-XiMat	blood
40	chr17:60115400-60128200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:60115400-60131400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:60115400-60135000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:60115800-60122600	Weak transcription	HUVEC	blood vessel
44	chr17:60115800-60123600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:60115800-60124000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:60116000-60131000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:60116000-60139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:60116200-60126400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:60116200-60139800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr17:60116400-60123800	Weak transcription	Right Ventricle	heart

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