Variant report

Variant	rs900056
Chromosome Location	chr15:40531826-40531827
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	JUN	chr15:40530694-40531836	K562	blood:	n/a	chr15:40531546-40531556 chr15:40531570-40531578 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531214-40531223 chr15:40531569-40531579 chr15:40531569-40531579
2	POLR2A	chr15:40531065-40531891	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr15:40531166-40532002	MCF-7	breast:	n/a	n/a
4	YY1	chr15:40531315-40531872	ECC-1	luminal epithelium:	n/a	chr15:40531369-40531383 chr15:40531399-40531410 chr15:40531369-40531380
5	UBTF	chr15:40531510-40531838	K562	blood:	n/a	n/a
6	MYC	chr15:40530884-40532856	MCF10A-Er-Src	breast:	n/a	chr15:40532394-40532403 chr15:40532596-40532606 chr15:40531232-40531241 chr15:40532599-40532609
7	JUND	chr15:40531355-40531889	MCF-7	breast:	n/a	chr15:40531546-40531556 chr15:40531570-40531578 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531569-40531579
8	TFAP2A	chr15:40531199-40532171	Hela-S3	cervix:	n/a	chr15:40531765-40531779 chr15:40531768-40531776 chr15:40531767-40531779 chr15:40531767-40531779 chr15:40531768-40531776 chr15:40531767-40531779 chr15:40531768-40531776 chr15:40531570-40531579 chr15:40531767-40531779 chr15:40531782-40531797
9	SMARCB1	chr15:40531230-40532124	Hela-S3	cervix:	n/a	chr15:40531570-40531579
10	REST	chr15:40530615-40531924	H1-neurons	neurons:	n/a	chr15:40531168-40531181 chr15:40530778-40530791 chr15:40530661-40530674 chr15:40530774-40530784 chr15:40531770-40531780 chr15:40531747-40531754
11	TFAP2C	chr15:40531234-40531931	Hela-S3	cervix:	n/a	n/a
12	YY1	chr15:40531053-40531967	H1-hESC	embryonic stem cell:	n/a	chr15:40531369-40531383 chr15:40531399-40531410 chr15:40531369-40531380
13	ZNF263	chr15:40531012-40532080	HEK293-T-REx	kidney:	n/a	chr15:40531224-40531233 chr15:40531114-40531123 chr15:40531117-40531126
14	FOSL2	chr15:40531337-40531874	MCF-7	breast:	n/a	chr15:40531546-40531556 chr15:40531570-40531578 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531569-40531579
15	REST	chr15:40530721-40531856	H1-neurons	neurons:	n/a	chr15:40531168-40531181 chr15:40530778-40530791 chr15:40530774-40530784 chr15:40531770-40531780 chr15:40531747-40531754
16	FOSL2	chr15:40531243-40531870	SK-N-SH	brain:	n/a	chr15:40531546-40531556 chr15:40531570-40531578 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531569-40531579 chr15:40531569-40531579

Variant related genes	Relation type
PAK6	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11070256	0.83[ASN][1000 genomes]
rs8042702	1.00[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40530400-40532000	Enhancers	Lung	lung
2	chr15:40530600-40532000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40530600-40532000	Bivalent Enhancer	Fetal Thymus	thymus
4	chr15:40530600-40533000	Enhancers	Fetal Brain Male	brain
5	chr15:40530600-40534000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:40530600-40534000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr15:40530800-40532000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:40530800-40532000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:40530800-40532000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr15:40530800-40532000	Enhancers	Fetal Heart	heart
11	chr15:40530800-40532200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:40530800-40532200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr15:40530800-40532600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr15:40530800-40534400	Flanking Active TSS	HMEC	breast
15	chr15:40531000-40532000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:40531000-40532000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr15:40531000-40532000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:40531000-40532200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr15:40531200-40532200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr15:40531200-40532200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr15:40531200-40533400	Active TSS	Brain Anterior Caudate	brain
22	chr15:40531200-40533600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:40531400-40532000	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr15:40531400-40532000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr15:40531400-40533000	Active TSS	Brain Angular Gyrus	brain
26	chr15:40531600-40532000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr15:40531600-40532000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:40531600-40532000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:40531600-40532000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:40531600-40532000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:40531600-40532000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr15:40531600-40532000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:40531600-40532000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
34	chr15:40531600-40532000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr15:40531600-40532000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr15:40531600-40532000	Enhancers	Colon Smooth Muscle	Colon
37	chr15:40531600-40532000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr15:40531600-40532000	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr15:40531600-40532000	Enhancers	Pancreas	Pancrea
40	chr15:40531600-40532000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
41	chr15:40531600-40532000	Enhancers	Right Ventricle	heart
42	chr15:40531600-40532000	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr15:40531600-40532000	Enhancers	HSMM	muscle
44	chr15:40531600-40532000	Enhancers	NH-A	brain
45	chr15:40531600-40532000	Enhancers	NHDF-Ad	bronchial
46	chr15:40531600-40532200	Enhancers	Fetal Lung	lung
47	chr15:40531600-40532200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr15:40531600-40532200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr15:40531600-40532200	Flanking Active TSS	Hela-S3	cervix
50	chr15:40531600-40532400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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