Variant report

Variant	rs577659
Chromosome Location	chr15:49461248-49461249
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	chr15:49461152-49463164	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr15:49461134-49462981	K562	blood:	n/a	n/a
3	MYC	chr15:49461149-49461572	MCF10A-Er-Src	breast:	n/a	chr15:49461291-49461301

No.	Distal block	Cell Line	Cell type
1	chr15:49446083..49452367-chr15:49460693..49464702,19	K562	blood:
2	chr15:49103040..49104751-chr15:49461062..49462834,2	K562	blood:
3	chr15:49461247..49464422-chr15:49530030..49534036,3	K562	blood:
4	chr15:49446471..49449731-chr15:49460521..49465602,13	MCF-7	breast:
5	chr15:49337641..49340367-chr15:49461061..49463741,3	MCF-7	breast:
6	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:

Variant related genes	Relation type
GALK2	TF binding region
ENSG00000138593	Chromatin interaction
ENSG00000259467	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000166200	Chromatin interaction
ENSG00000103995	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11631782	1.00[MKK][hapmap]
rs16962243	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap]
rs2413938	0.85[EUR][1000 genomes]
rs72727251	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7496529	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs577659	CATSPER2P1	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49448800-49461400	Weak transcription	Small Intestine	intestine
2	chr15:49448800-49461800	Weak transcription	Colonic Mucosa	Colon
3	chr15:49448800-49461800	Weak transcription	Stomach Mucosa	stomach
4	chr15:49448800-49462000	Weak transcription	Placenta	Placenta
5	chr15:49448800-49462000	Weak transcription	Left Ventricle	heart
6	chr15:49448800-49462000	Weak transcription	Lung	lung
7	chr15:49448800-49462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:49448800-49462200	Weak transcription	Ovary	ovary
9	chr15:49448800-49462200	Weak transcription	Pancreas	Pancrea
10	chr15:49448800-49462200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:49448800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:49448800-49462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:49448800-49462400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:49448800-49462400	Weak transcription	Spleen	Spleen
15	chr15:49449000-49461600	Weak transcription	Fetal Intestine Small	intestine
16	chr15:49449000-49461800	Weak transcription	Brain Germinal Matrix	brain
17	chr15:49449000-49462000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr15:49449000-49462000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:49449000-49462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:49449000-49462000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:49449000-49462000	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:49449000-49462000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:49449000-49462200	Weak transcription	Thymus	Thymus
24	chr15:49449200-49461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:49449200-49461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:49449200-49462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:49449200-49462000	Weak transcription	Fetal Stomach	stomach
28	chr15:49449200-49462000	Weak transcription	Fetal Thymus	thymus
29	chr15:49449200-49462000	Weak transcription	NH-A	brain
30	chr15:49449400-49461600	Weak transcription	Brain Angular Gyrus	brain
31	chr15:49449400-49461800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:49449400-49461800	Weak transcription	Fetal Intestine Large	intestine
33	chr15:49449400-49461800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:49449400-49461800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:49449400-49462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:49449400-49462000	Weak transcription	Fetal Brain Female	brain
37	chr15:49449400-49462000	Weak transcription	Fetal Lung	lung
38	chr15:49449400-49462000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:49449600-49461600	Weak transcription	NHDF-Ad	bronchial
40	chr15:49449600-49461800	Weak transcription	Primary B cells from cord blood	blood
41	chr15:49449600-49461800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:49449600-49461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:49449600-49461800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:49449600-49461800	Weak transcription	Fetal Brain Male	brain
45	chr15:49449600-49461800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:49449600-49461800	Weak transcription	HUVEC	blood vessel
47	chr15:49449600-49462000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:49449600-49462200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:49449800-49462000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:49450000-49461600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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