Variant report

Variant	rs9576151
Chromosome Location	chr13:37570484-37570485
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	chr13:37570338-37570538	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr13:37569295-37571178	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37559855..37563377-chr13:37569856..37572688,4	K562	blood:
2	chr13:37570200..37576399-chr13:37580273..37587423,15	MCF-7	breast:

Variant related genes	Relation type
EXOSC8	TF binding region
ENSG00000120699	Chromatin interaction
ENSG00000102710	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11147624	0.86[JPT][hapmap]
rs11147625	0.86[JPT][hapmap]
rs11147626	0.86[JPT][hapmap]
rs11147627	0.86[JPT][hapmap]
rs1127446	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2078022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243710	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2323396	0.86[JPT][hapmap]
rs3818380	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3852618	0.86[JPT][hapmap]
rs3852619	0.91[JPT][hapmap]
rs3864999	0.86[JPT][hapmap]
rs4054546	0.89[JPT][hapmap]
rs4943438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943440	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336575	0.97[ASN][1000 genomes]
rs7989745	0.88[ASN][1000 genomes]
rs8000946	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315455	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs9469	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9532003	0.96[ASN][1000 genomes]
rs954370	1.00[JPT][hapmap]
rs9547708	0.97[ASN][1000 genomes]
rs9547709	0.95[ASN][1000 genomes]
rs9547711	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9547713	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9547724	0.80[ASN][1000 genomes]
rs9566172	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9566177	0.86[JPT][hapmap]
rs9566178	0.84[JPT][hapmap]
rs9576144	0.96[CEU][hapmap];0.80[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9576145	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576146	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576147	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576149	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576150	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576156	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.85[ASN][1000 genomes]
rs9576159	0.81[ASN][1000 genomes]
rs9576161	0.94[CHB][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs9576167	0.84[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs9576176	0.86[JPT][hapmap]
rs9576177	0.86[JPT][hapmap]
rs9576178	0.86[JPT][hapmap]
rs9576181	0.86[JPT][hapmap]
rs9603126	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9576151	ALG5	cis	parietal	SCAN
rs9576151	EXOSC8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:37555200-37571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:37559800-37571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:37567400-37572000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:37567600-37571800	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:37567600-37571800	Weak transcription	Fetal Heart	heart
7	chr13:37567600-37572000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:37567600-37572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:37567600-37572200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:37567600-37572200	Weak transcription	Brain Angular Gyrus	brain
11	chr13:37567600-37572400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:37567800-37571000	Weak transcription	Hela-S3	cervix
13	chr13:37567800-37572000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:37567800-37572000	Weak transcription	Stomach Mucosa	stomach
15	chr13:37567800-37572200	Weak transcription	Psoas Muscle	Psoas
16	chr13:37568000-37572000	Weak transcription	Fetal Kidney	kidney
17	chr13:37568200-37571200	Weak transcription	Fetal Brain Male	brain
18	chr13:37568200-37572000	Weak transcription	A549	lung
19	chr13:37568200-37572200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:37568200-37572200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:37568200-37572200	Weak transcription	Right Ventricle	heart
22	chr13:37568200-37572400	Weak transcription	Gastric	stomach
23	chr13:37568200-37572600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:37568200-37572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr13:37568200-37572600	Weak transcription	Aorta	Aorta
26	chr13:37568400-37571800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:37568400-37572000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:37568400-37572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr13:37568400-37572200	Weak transcription	HSMMtube	muscle
30	chr13:37568600-37572400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:37569000-37571800	Weak transcription	Brain Germinal Matrix	brain
32	chr13:37569000-37572000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:37569000-37572200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr13:37569200-37571200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:37569200-37572200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr13:37569200-37572200	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:37569200-37572200	Weak transcription	Brain Substantia Nigra	brain
38	chr13:37569200-37572200	Weak transcription	Fetal Intestine Small	intestine
39	chr13:37569200-37572200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr13:37569200-37572200	Weak transcription	Small Intestine	intestine
41	chr13:37569200-37572200	Weak transcription	Thymus	Thymus
42	chr13:37569200-37572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:37569400-37571000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr13:37569400-37571000	Weak transcription	Brain Anterior Caudate	brain
45	chr13:37569400-37571600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:37569400-37571600	Weak transcription	Adipose Nuclei	Adipose
47	chr13:37569400-37571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:37569400-37572200	Weak transcription	Pancreas	Pancrea
49	chr13:37569400-37572200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:37569400-37572200	Weak transcription	Spleen	Spleen

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