Variant report

Variant	rs7535757
Chromosome Location	chr1:57009462-57009463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57008382..57010027-chr1:57032714..57034391,2	MCF-7	breast:
2	chr1:57007850..57009475-chr1:57034148..57036115,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10888977	0.89[MKK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs11206833	0.82[TSI][hapmap]
rs11810204	0.82[TSI][hapmap]
rs1261411	0.88[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12751490	0.84[EUR][1000 genomes]
rs1759750	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1759752	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs1777274	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1777277	0.81[AFR][1000 genomes]
rs1810930	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1930760	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1930762	0.94[ASW][hapmap];0.85[CEU][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4532850	0.84[ASW][hapmap];0.85[CEU][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4912377	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798508	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7529520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556056	0.94[ASW][hapmap];0.85[CEU][hapmap];0.95[LWK][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs953856	0.96[YRI][hapmap]
rs993075	0.81[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7535757	ACOT11	cis	cerebellum	SCAN
rs7535757	PCSK9	cis	cerebellum	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
3	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
4	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
5	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
6	chr1:57000400-57011000	Weak transcription	Gastric	stomach
7	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:57001200-57018800	Weak transcription	A549	lung
9	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
10	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
13	chr1:57003200-57011400	Weak transcription	Lung	lung
14	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:57003600-57013200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:57003800-57011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:57004000-57011200	Weak transcription	Spleen	Spleen
19	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
20	chr1:57004200-57011400	Weak transcription	Esophagus	oesophagus
21	chr1:57004400-57013200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:57004600-57010400	Enhancers	Colon Smooth Muscle	Colon
23	chr1:57005600-57013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:57005800-57010800	Weak transcription	Fetal Heart	heart
25	chr1:57005800-57011200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:57005800-57013200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:57006200-57012200	Weak transcription	Fetal Intestine Large	intestine
28	chr1:57006600-57010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:57006600-57012200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:57006800-57009800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:57006800-57009800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:57006800-57011000	Weak transcription	Aorta	Aorta
33	chr1:57006800-57011000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:57007000-57011000	Weak transcription	Fetal Stomach	stomach
35	chr1:57007200-57011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:57007400-57010400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:57007600-57009600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:57007600-57009800	Weak transcription	Fetal Lung	lung
40	chr1:57007600-57010400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:57007600-57010400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:57007600-57010600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:57007600-57011400	Weak transcription	Adipose Nuclei	Adipose
44	chr1:57007600-57013400	Weak transcription	Osteobl	bone
45	chr1:57007800-57015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:57008200-57010000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:57008200-57011000	Weak transcription	Right Atrium	heart
48	chr1:57008400-57011000	Weak transcription	Placenta	Placenta
49	chr1:57008400-57013000	Weak transcription	HSMM	muscle
50	chr1:57008600-57009800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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