Variant report

Variant	rs13263130
Chromosome Location	chr8:125535426-125535427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
2	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
3	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
4	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1131024	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13250890	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13254054	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13264071	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13269215	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276295	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17298010	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17298759	1.00[LWK][hapmap]
rs17299208	1.00[LWK][hapmap];0.80[MKK][hapmap]
rs17372901	1.00[LWK][hapmap]
rs34008273	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34115246	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34681068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34684627	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34714561	0.84[EUR][1000 genomes]
rs35005670	0.82[AMR][1000 genomes]
rs35135081	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35309726	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35419095	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4358788	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4457314	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];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4535724	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4540394	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6470248	0.80[MKK][hapmap]
rs7010902	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.80[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7813473	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13263130	ZHX2	cis	cerebellum	SCAN
rs13263130	ZNF572	cis	cerebellum	SCAN
rs13263130	NSMCE2	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125541200	Weak transcription	Gastric	stomach
3	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
4	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
8	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
10	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
11	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
13	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:125510400-125536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:125511600-125536400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:125512000-125536000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:125512400-125535800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:125512400-125536400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:125512600-125535600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:125512800-125535600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:125513200-125535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:125516200-125537200	Weak transcription	Lung	lung
25	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
26	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:125523000-125536800	Weak transcription	Stomach Mucosa	stomach
32	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
33	chr8:125525400-125535800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:125525400-125536200	Weak transcription	Ovary	ovary
35	chr8:125526600-125536800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:125526600-125541000	Weak transcription	Colonic Mucosa	Colon
37	chr8:125526800-125537200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:125527200-125537000	Weak transcription	Pancreas	Pancrea
39	chr8:125527200-125539600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:125527400-125541000	Weak transcription	Fetal Heart	heart
41	chr8:125527600-125537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
43	chr8:125527800-125535600	Weak transcription	Right Ventricle	heart
44	chr8:125528000-125537000	Weak transcription	A549	lung
45	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:125528200-125536000	Weak transcription	HUVEC	blood vessel
47	chr8:125528200-125536800	Weak transcription	HepG2	liver
48	chr8:125529200-125537200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:125529200-125537200	Weak transcription	HSMMtube	muscle
50	chr8:125529200-125539600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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