Variant report

Variant	rs2506984
Chromosome Location	chr1:48002255-48002256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47992992..47995157-chr1:48002196..48004633,2	MCF-7	breast:
2	chr1:47999483..48002878-chr1:48011210..48014102,3	K562	blood:
3	chr1:48001816..48003330-chr1:48003342..48005067,2	K562	blood:
4	chr1:47997635..47999382-chr1:48000827..48002460,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11211529	1.00[EUR][1000 genomes]
rs11211536	1.00[EUR][1000 genomes]
rs12021515	1.00[EUR][1000 genomes]
rs12026379	1.00[EUR][1000 genomes]
rs12030146	1.00[EUR][1000 genomes]
rs12032801	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12049163	1.00[EUR][1000 genomes]
rs12049416	1.00[EUR][1000 genomes]
rs1680019	1.00[EUR][1000 genomes]
rs17103177	1.00[EUR][1000 genomes]
rs17103179	1.00[EUR][1000 genomes]
rs17103196	1.00[EUR][1000 genomes]
rs1765156	1.00[EUR][1000 genomes]
rs1813427	1.00[EUR][1000 genomes]
rs2250183	1.00[JPT][hapmap]
rs2253511	1.00[EUR][1000 genomes]
rs2622906	1.00[EUR][1000 genomes]
rs2622911	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3738317	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4926868	1.00[EUR][1000 genomes]
rs495482	1.00[EUR][1000 genomes]
rs506329	1.00[EUR][1000 genomes]
rs522768	1.00[EUR][1000 genomes]
rs527430	1.00[EUR][1000 genomes]
rs557101	1.00[EUR][1000 genomes]
rs60042036	1.00[EUR][1000 genomes]
rs642750	1.00[EUR][1000 genomes]
rs6683513	0.87[EUR][1000 genomes]
rs6688278	0.87[EUR][1000 genomes]
rs66904716	1.00[EUR][1000 genomes]
rs6703935	1.00[EUR][1000 genomes]
rs693036	1.00[EUR][1000 genomes]
rs72480616	1.00[EUR][1000 genomes]
rs72553947	1.00[EUR][1000 genomes]
rs72553949	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:48000000-48002600	Weak transcription	Lung	lung
2	chr1:48000000-48002800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:48000000-48002800	Weak transcription	Gastric	stomach
4	chr1:48000000-48003000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:48000200-48002800	Weak transcription	Colonic Mucosa	Colon
6	chr1:48000400-48002600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:48000400-48008200	Weak transcription	Stomach Mucosa	stomach
8	chr1:48000600-48002400	Weak transcription	Right Ventricle	heart
9	chr1:48000600-48002600	Weak transcription	Placenta	Placenta
10	chr1:48000800-48002400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:48001000-48003000	Enhancers	Fetal Kidney	kidney
12	chr1:48001400-48002600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:48001600-48002600	Weak transcription	Left Ventricle	heart
14	chr1:48001600-48003200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:48002000-48002400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:48002000-48003000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:48002000-48003000	Enhancers	Liver	Liver
18	chr1:48002000-48004200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:48002200-48002400	Bivalent Enhancer	Fetal Stomach	stomach
20	chr1:48002200-48002600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:48002200-48002800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:48002200-48002800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:48002200-48003000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:48002200-48003000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:48002200-48003000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:48002200-48003000	Enhancers	Adipose Nuclei	Adipose
27	chr1:48002200-48003000	Enhancers	Fetal Lung	lung
28	chr1:48002200-48003200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:48002200-48003400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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