Variant report

Variant	rs7529520
Chromosome Location	chr1:57016477-57016478
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57015989..57018935-chr1:57031658..57034048,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1261411	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs12751490	0.84[EUR][1000 genomes]
rs1759750	0.90[EUR][1000 genomes]
rs1777274	0.90[EUR][1000 genomes]
rs1810930	0.88[EUR][1000 genomes]
rs1930760	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1930762	0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs4532850	0.86[EUR][1000 genomes]
rs4912377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798508	0.88[EUR][1000 genomes]
rs7535757	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	0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs993075	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57001200-57018800	Weak transcription	A549	lung
2	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
3	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
5	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
8	chr1:57010400-57019200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:57010400-57019600	Enhancers	Right Ventricle	heart
10	chr1:57010600-57017200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:57011000-57017200	Enhancers	Brain Anterior Caudate	brain
12	chr1:57011000-57020200	Enhancers	Brain Hippocampus Middle	brain
13	chr1:57011600-57016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:57011800-57018000	Enhancers	Brain Substantia Nigra	brain
15	chr1:57012000-57016800	Enhancers	HepG2	liver
16	chr1:57012000-57017000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:57012000-57017000	Weak transcription	Spleen	Spleen
18	chr1:57012200-57017800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:57012400-57017000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:57012600-57019200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:57012600-57019600	Enhancers	Brain Angular Gyrus	brain
22	chr1:57012600-57020000	Enhancers	Adipose Nuclei	Adipose
23	chr1:57012800-57017000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:57013000-57016800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:57013000-57017800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:57013000-57019400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:57013000-57019400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr1:57013000-57019400	Enhancers	Psoas Muscle	Psoas
29	chr1:57013000-57019800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:57013000-57020000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:57013200-57017000	Weak transcription	Fetal Brain Female	brain
32	chr1:57013200-57017800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:57013200-57017800	Enhancers	Right Atrium	heart
34	chr1:57013200-57018000	Enhancers	Ovary	ovary
35	chr1:57013200-57019200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:57013200-57021000	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:57013400-57017800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:57013400-57018600	Enhancers	Liver	Liver
39	chr1:57014000-57026000	Weak transcription	Fetal Intestine Large	intestine
40	chr1:57014400-57017000	Weak transcription	Esophagus	oesophagus
41	chr1:57014400-57017200	Strong transcription	HSMM	muscle
42	chr1:57014400-57018800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:57014600-57017200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:57014800-57016800	Enhancers	Brain Germinal Matrix	brain
45	chr1:57014800-57017400	Genic enhancers	Placenta	Placenta
46	chr1:57014800-57017400	Enhancers	Fetal Thymus	thymus
47	chr1:57014800-57017800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:57014800-57019000	Weak transcription	Osteobl	bone
49	chr1:57014800-57019600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:57015000-57016600	Enhancers	NHDF-Ad	bronchial

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