Variant report

Variant	rs8036097
Chromosome Location	chr15:58946989-58946990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58945480..58947689-chr15:59040936..59043629,2	K562	blood:
2	chr15:58944978..58947722-chr15:58953875..58956765,2	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11071396	0.90[CHB][hapmap]
rs12437552	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12438114	0.80[CHB][hapmap]
rs12592302	0.87[ASN][1000 genomes]
rs1427280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17236243	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2114573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2414606	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2414607	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs394845	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs4774309	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs681711	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs694335	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs7173286	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7176436	0.91[CHD][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7179724	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7182060	0.87[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9646204	0.91[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569602	chr15:58914326-58964437	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8036097	PYGO1	cis	parietal	SCAN
rs8036097	DYX1C1	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58891400-58959600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
3	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
4	chr15:58905600-58976400	Weak transcription	Gastric	stomach
5	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
6	chr15:58907800-58952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:58911600-58951200	Weak transcription	Fetal Brain Male	brain
8	chr15:58911600-58958000	Weak transcription	Fetal Brain Female	brain
9	chr15:58914200-58957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:58914600-58957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:58917000-58959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:58919800-58959200	Weak transcription	Brain Germinal Matrix	brain
13	chr15:58920200-58957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:58921000-58957600	Weak transcription	Colonic Mucosa	Colon
15	chr15:58921200-58949400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:58921200-58959600	Weak transcription	Aorta	Aorta
17	chr15:58921200-58968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:58921600-58959200	Weak transcription	NHLF	lung
19	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
20	chr15:58921800-58947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
22	chr15:58922200-58959000	Weak transcription	HUVEC	blood vessel
23	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
24	chr15:58923400-58982800	Weak transcription	Lung	lung
25	chr15:58923800-58947400	Weak transcription	Fetal Stomach	stomach
26	chr15:58924000-58960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:58926400-58957600	Weak transcription	Brain Substantia Nigra	brain
28	chr15:58927000-58956600	Weak transcription	Ovary	ovary
29	chr15:58933000-58949600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:58933200-58947000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:58933200-58952400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:58933400-58947000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:58933400-58949800	Weak transcription	Hela-S3	cervix
35	chr15:58933400-58954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:58933400-58955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:58933400-58956000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:58933600-58959000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:58934000-58949400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:58934200-58947200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:58934200-58947400	Weak transcription	Left Ventricle	heart
42	chr15:58934200-58954800	Weak transcription	Osteobl	bone
43	chr15:58934200-58957600	Weak transcription	Brain Angular Gyrus	brain
44	chr15:58934200-58957800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr15:58934200-58958200	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
47	chr15:58935000-58949800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:58935400-58947200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:58936000-58947000	Weak transcription	Fetal Kidney	kidney
50	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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