Variant report

Variant	rs8031729
Chromosome Location	chr15:59563831-59563832
allele	C/T
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	EP300	chr15:59563107-59564336	A549	lung:	n/a	chr15:59563529-59563537 chr15:59563143-59563157
2	SP1	chr15:59563173-59564310	A549	lung:	n/a	n/a
3	MAX	chr15:59563626-59566910	A549	lung:	n/a	chr15:59565358-59565367 chr15:59564063-59564073 chr15:59564064-59564071 chr15:59564062-59564073 chr15:59565585-59565594 chr15:59564063-59564073 chr15:59566058-59566068 chr15:59564063-59564072
4	TCF12	chr15:59563069-59564456	A549	lung:	n/a	chr15:59564290-59564298 chr15:59563914-59563923
5	MAX	chr15:59563724-59564338	A549	lung:	n/a	chr15:59564063-59564073 chr15:59564064-59564071 chr15:59564062-59564073 chr15:59564063-59564073 chr15:59564063-59564072
6	POLR2A	chr15:59563689-59564292	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59554788..59557654-chr15:59562989..59565608,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLTM-9	chr15:59563530-59563953	NONHSAT044161

Variant related genes	Relation type
ENSG00000259771	TF binding region
ENSG00000157483	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12437559	0.89[CEU][hapmap]
rs12439560	0.93[CEU][hapmap]
rs12443291	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12443328	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[ASN][1000 genomes]
rs12591694	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12595001	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12917076	0.83[CEU][hapmap];0.81[TSI][hapmap]
rs17236495	0.89[CEU][hapmap]
rs17236502	0.89[CEU][hapmap]
rs17236509	0.89[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306783	0.83[CEU][hapmap];0.81[TSI][hapmap]
rs2306784	0.83[CEU][hapmap];0.81[TSI][hapmap]
rs4077169	0.89[CEU][hapmap];0.95[TSI][hapmap]
rs4420472	0.89[CEU][hapmap]
rs58487017	0.89[EUR][1000 genomes]
rs6494081	0.89[CEU][hapmap];0.81[TSI][hapmap]
rs67959850	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7166002	0.88[CEU][hapmap]
rs8039095	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv904273	chr15:59518488-59567137	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8031729	HSP90AB4P	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59515800-59566600	Weak transcription	Pancreas	Pancrea
2	chr15:59517800-59564200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:59521600-59566400	Weak transcription	Psoas Muscle	Psoas
4	chr15:59524600-59569200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:59524600-59574600	Weak transcription	Lung	lung
6	chr15:59525200-59566600	Weak transcription	Small Intestine	intestine
7	chr15:59525200-59582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:59530600-59568000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:59530800-59569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:59533400-59564000	Weak transcription	Ovary	ovary
11	chr15:59533400-59566800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:59540000-59568800	Weak transcription	Fetal Kidney	kidney
13	chr15:59541200-59566400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:59542400-59568200	Weak transcription	Gastric	stomach
15	chr15:59542800-59565400	Weak transcription	Left Ventricle	heart
16	chr15:59543200-59568200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:59544000-59566200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr15:59544600-59582400	Weak transcription	Primary B cells from cord blood	blood
19	chr15:59547400-59564000	Weak transcription	Fetal Stomach	stomach
20	chr15:59547400-59587000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:59548200-59566400	Weak transcription	Aorta	Aorta
22	chr15:59548200-59567800	Weak transcription	Fetal Heart	heart
23	chr15:59550000-59568000	Weak transcription	Colonic Mucosa	Colon
24	chr15:59550000-59571600	Weak transcription	Esophagus	oesophagus
25	chr15:59550200-59566000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:59550600-59574600	Weak transcription	Adipose Nuclei	Adipose
27	chr15:59551400-59566200	Weak transcription	HSMMtube	muscle
28	chr15:59552000-59569800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:59552600-59564000	Strong transcription	GM12878-XiMat	blood
30	chr15:59552600-59566400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:59557600-59565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:59557600-59566400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr15:59558400-59564400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:59558600-59565400	Weak transcription	Stomach Mucosa	stomach
35	chr15:59558800-59565600	Weak transcription	HepG2	liver
36	chr15:59559800-59567600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:59559800-59568200	Weak transcription	Placenta	Placenta
38	chr15:59560600-59564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:59560600-59565600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:59560600-59566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:59560600-59570400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:59560800-59566000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:59560800-59568400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:59561000-59564200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:59561000-59565600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:59561200-59565600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:59561200-59566600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:59561200-59566600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:59561200-59568000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:59561400-59566000	Weak transcription	NHDF-Ad	bronchial

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