Variant report

Variant	rs11635777
Chromosome Location	chr15:49310869-49310870
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	POLR2A	chr15:49310859-49311052	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49303661..49305491-chr15:49310217..49312330,2	K562	blood:

Variant related genes	Relation type
SECISBP2L	TF binding region
ENSG00000138593	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11070677	0.95[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11070679	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070681	0.83[ASW][hapmap];0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[YRI][hapmap]
rs12441272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442006	0.95[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12904439	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12906122	0.82[ASW][hapmap]
rs12915955	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12916364	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305195	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34825252	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35212550	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354871	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4480739	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4775791	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4775793	0.91[ASW][hapmap];0.95[CEU][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4775797	0.95[CEU][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7177541	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs725815	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8026097	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8029751	0.81[TSI][hapmap]
rs935001	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs935002	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs935004	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9920868	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11635777	CATSPER2P1	cis	cerebellum	SCAN
rs11635777	B2M	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49282800-49333400	Weak transcription	A549	lung
2	chr15:49283600-49337600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:49285000-49329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:49289200-49336400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:49289800-49317000	Weak transcription	Stomach Mucosa	stomach
6	chr15:49298000-49311400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:49298000-49328400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:49298000-49328800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:49298200-49314600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:49298200-49314600	Strong transcription	Adipose Nuclei	Adipose
11	chr15:49298200-49316200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr15:49298200-49316400	Strong transcription	Placenta	Placenta
13	chr15:49298200-49329800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:49298400-49314000	Strong transcription	HSMM	muscle
15	chr15:49298400-49322000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:49298400-49322000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:49298600-49325200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:49298600-49329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:49299800-49312200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:49301400-49329000	Weak transcription	K562	blood
21	chr15:49303000-49312800	Weak transcription	Lung	lung
22	chr15:49303000-49327600	Weak transcription	Right Ventricle	heart
23	chr15:49303200-49312400	Weak transcription	Fetal Intestine Small	intestine
24	chr15:49304200-49313200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:49304200-49318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:49304400-49312600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:49304400-49318000	Weak transcription	Brain Germinal Matrix	brain
28	chr15:49305800-49311000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr15:49306600-49311000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:49306600-49311400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:49307600-49311200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:49308400-49318200	Weak transcription	Fetal Brain Female	brain
33	chr15:49308400-49320000	Weak transcription	HepG2	liver
34	chr15:49308400-49320200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:49308400-49327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:49308400-49327600	Weak transcription	Dnd41	blood
37	chr15:49308600-49312000	Weak transcription	Brain Substantia Nigra	brain
38	chr15:49308600-49312400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:49308600-49312400	Weak transcription	Thymus	Thymus
40	chr15:49308600-49312400	Weak transcription	Spleen	Spleen
41	chr15:49308600-49312600	Weak transcription	Aorta	Aorta
42	chr15:49308600-49312600	Weak transcription	Pancreas	Pancrea
43	chr15:49308600-49313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:49308600-49313400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:49308600-49318000	Weak transcription	Brain Angular Gyrus	brain
46	chr15:49308600-49319000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:49308600-49320000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:49308600-49320600	Weak transcription	Fetal Heart	heart
49	chr15:49308600-49323000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:49308600-49326800	Weak transcription	Esophagus	oesophagus

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