Variant report

Variant	rs13264071
Chromosome Location	chr8:125500518-125500519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125500194-125500607	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:125500093-125500536	K562	blood:	n/a	n/a
3	POLR2A	chr8:125497761-125504238	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125495517..125498370-chr8:125499214..125502183,3	MCF-7	breast:
2	chr6:27860988..27863311-chr8:125499601..125501283,2	K562	blood:
3	chr8:125499578..125501276-chr8:125515808..125518210,2	MCF-7	breast:
4	chr8:125498976..125500980-chr8:125550117..125552878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253106	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1131024	0.87[CEU][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs13250890	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13254054	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263130	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	0.87[CEU][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap];0.87[EUR][1000 genomes]
rs13276295	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17298010	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34008273	0.96[EUR][1000 genomes]
rs34115246	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34681068	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34684627	0.87[EUR][1000 genomes]
rs34714561	0.82[EUR][1000 genomes]
rs35005670	0.81[EUR][1000 genomes]
rs35135081	0.98[EUR][1000 genomes]
rs35309726	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35419095	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4358788	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4457314	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4535724	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4540394	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010902	0.87[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7813473	0.96[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
rs13264071	ZHX2	cis	cerebellum	SCAN
rs13264071	NSMCE2	cis	cerebellum	SCAN
rs13264071	ZNF572	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488000-125503400	Weak transcription	Spleen	Spleen
2	chr8:125488200-125515800	Weak transcription	Lung	lung
3	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:125489000-125541200	Weak transcription	Gastric	stomach
10	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
11	chr8:125489400-125501800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:125496800-125503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:125496800-125503400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
18	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
19	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:125497600-125505200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:125497800-125502400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:125497800-125504000	Strong transcription	Primary B cells from cord blood	blood
23	chr8:125497800-125506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:125498000-125500600	Strong transcription	Fetal Kidney	kidney
25	chr8:125498000-125501600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr8:125498000-125501600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:125498000-125501600	Strong transcription	GM12878-XiMat	blood
28	chr8:125498000-125501800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr8:125498000-125502600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:125498000-125502600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:125498000-125503600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:125498000-125503800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr8:125498000-125503800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:125498000-125504000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:125498000-125504000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:125498000-125504000	Strong transcription	Fetal Thymus	thymus
37	chr8:125498000-125504200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:125498000-125504400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:125498000-125504600	Strong transcription	Primary T cells from cord blood	blood
40	chr8:125498000-125504600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:125498000-125505000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:125498000-125505800	Strong transcription	Dnd41	blood
43	chr8:125498000-125506200	Strong transcription	Fetal Intestine Large	intestine
44	chr8:125498000-125506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:125498000-125506800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:125498200-125501400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:125498200-125501800	Strong transcription	HUVEC	blood vessel
48	chr8:125498200-125502000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:125498200-125502200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:125498200-125502200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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