Variant report

Variant	rs985777
Chromosome Location	chr1:209584849-209584850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209572311..209574562-chr1:209584018..209585756,2	MCF-7	breast:
2	chr1:209560392..209562273-chr1:209582844..209585455,2	MCF-7	breast:
3	chr1:209583721..209587337-chr1:209587935..209591098,6	MCF-7	breast:
4	chr1:209583470..209586141-chr1:209661722..209664045,2	MCF-7	breast:
5	chr1:209555854..209558592-chr1:209584586..209586209,2	MCF-7	breast:
6	chr1:209526627..209529456-chr1:209583930..209587370,3	MCF-7	breast:
7	chr1:209540623..209542748-chr1:209583798..209586109,2	K562	blood:
8	chr1:209576552..209581485-chr1:209581592..209585768,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231648	Chromatin interaction

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

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

rs_ID	r²[population]
rs11119307	1.00[AMR][1000 genomes]
rs1933615	1.00[AMR][1000 genomes]
rs1933617	1.00[AMR][1000 genomes]
rs1933618	1.00[AMR][1000 genomes]
rs2185096	1.00[AMR][1000 genomes]
rs2211046	1.00[AMR][1000 genomes]
rs2250698	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788157	1.00[AMR][1000 genomes]
rs2788169	1.00[AMR][1000 genomes]
rs2788171	1.00[AMR][1000 genomes]
rs2800917	1.00[AMR][1000 genomes]
rs2800918	1.00[AMR][1000 genomes]
rs2843177	0.82[YRI][hapmap];1.00[AMR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209573000-209590200	Weak transcription	Fetal Thymus	thymus
2	chr1:209579800-209589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:209582200-209586800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:209582600-209585800	Enhancers	NH-A	brain
5	chr1:209582600-209586000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:209582600-209586600	Enhancers	A549	lung
7	chr1:209582800-209585400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:209582800-209585600	Enhancers	Placenta	Placenta
9	chr1:209582800-209592200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209583000-209585200	Enhancers	Hela-S3	cervix
11	chr1:209583000-209585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:209583000-209586200	Enhancers	Osteobl	bone
13	chr1:209583000-209586400	Enhancers	HSMM	muscle
14	chr1:209583200-209586000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:209583600-209586000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:209583800-209585600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:209584000-209585200	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:209584000-209586200	Enhancers	HSMMtube	muscle
19	chr1:209584200-209586200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:209584400-209585000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:209584400-209585000	Flanking Active TSS	HMEC	breast
22	chr1:209584400-209585400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:209584400-209585600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:209584400-209585600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:209584400-209585800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:209584400-209586200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:209584400-209586200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:209584400-209586200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:209584400-209586400	Flanking Active TSS	NHEK	skin
30	chr1:209584600-209585000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:209584600-209585000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:209584600-209585000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr1:209584600-209585400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:209584600-209585400	Weak transcription	Esophagus	oesophagus
35	chr1:209584600-209585600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:209584600-209585800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:209584600-209585800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:209584600-209586000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:209584600-209586000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:209584600-209586000	Enhancers	Adipose Nuclei	Adipose
41	chr1:209584600-209586200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:209584600-209586200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:209584600-209586200	Enhancers	NHDF-Ad	bronchial
44	chr1:209584800-209585000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:209584800-209585000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:209584800-209585000	ZNF genes & repeats	Aorta	Aorta
47	chr1:209584800-209585000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:209584800-209585400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:209584800-209585400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:209584800-209585400	Enhancers	Colon Smooth Muscle	Colon

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