Variant report

Variant	rs7516757
Chromosome Location	chr1:209576627-209576628
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	chr1:209565872..209577230-chr1:209599783..209610462,26	MCF-7	breast:
2	chr1:209576552..209581485-chr1:209581592..209585768,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006316	0.83[ASN][1000 genomes]
rs1006317	0.84[ASN][1000 genomes]
rs1354850	0.83[ASN][1000 genomes]
rs1354852	0.83[ASN][1000 genomes]
rs1354853	0.83[ASN][1000 genomes]
rs1507336	0.83[ASN][1000 genomes]
rs17014370	0.81[ASN][1000 genomes]
rs17014375	0.83[ASN][1000 genomes]
rs17014395	0.83[ASN][1000 genomes]
rs17014396	0.83[ASN][1000 genomes]
rs4844473	0.84[ASN][1000 genomes]
rs4844820	0.80[ASN][1000 genomes]
rs4844821	0.84[ASN][1000 genomes]
rs55684110	0.81[ASN][1000 genomes]
rs58017268	0.81[ASN][1000 genomes]
rs60460414	0.87[ASN][1000 genomes]
rs60534728	0.81[ASN][1000 genomes]
rs6674793	0.86[ASN][1000 genomes]
rs74155473	0.83[ASN][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	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209567200-209584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209568400-209578200	Enhancers	HMEC	breast
3	chr1:209571800-209577200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:209572200-209577000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:209572200-209577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:209572200-209577000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:209572800-209576800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:209572800-209577800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:209573000-209576800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:209573000-209576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:209573000-209577000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:209573000-209577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:209573000-209577600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:209573000-209578000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:209573000-209578000	Weak transcription	HSMM	muscle
16	chr1:209573000-209578600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:209573000-209578800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:209573000-209583000	Weak transcription	NHDF-Ad	bronchial
19	chr1:209573000-209590200	Weak transcription	Fetal Thymus	thymus
20	chr1:209573200-209577800	Weak transcription	NHLF	lung
21	chr1:209573400-209576800	Weak transcription	Hela-S3	cervix
22	chr1:209573400-209577600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:209574000-209578200	Weak transcription	A549	lung
24	chr1:209574400-209577200	Weak transcription	Osteobl	bone
25	chr1:209574400-209577400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:209574600-209577200	Weak transcription	NH-A	brain
27	chr1:209575000-209577400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:209575000-209578000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:209575200-209577000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:209575400-209577000	Enhancers	NHEK	skin
31	chr1:209575600-209576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:209575600-209580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:209576400-209577800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:209576400-209578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:209576400-209578000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:209576400-209578200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:209576600-209577600	Enhancers	Esophagus	oesophagus

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