Variant report

Variant	rs2645287
Chromosome Location	chr1:119502888-119502889
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:119486109..119488206-chr1:119501426..119503723,2	K562	blood:
2	chr1:119502355..119504845-chr1:119505542..119508348,2	K562	blood:
3	chr1:119501349..119503562-chr1:119504433..119507256,2	K562	blood:
4	chr1:119493468..119498537-chr1:119500234..119504845,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1014098	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17022901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256171	0.85[YRI][hapmap];0.90[AFR][1000 genomes]
rs2256826	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs2645286	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2645298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645306	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs2645307	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs2765535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810933	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119500800-119504000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:119500800-119504200	Enhancers	Fetal Intestine Large	intestine
3	chr1:119500800-119504200	Enhancers	Fetal Intestine Small	intestine
4	chr1:119500800-119505200	Enhancers	Psoas Muscle	Psoas
5	chr1:119501000-119503600	Enhancers	Liver	Liver
6	chr1:119501200-119504600	Enhancers	Stomach Mucosa	stomach
7	chr1:119501200-119507600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:119501200-119520200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:119501400-119503400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:119501600-119503600	Enhancers	Primary B cells from cord blood	blood
11	chr1:119501600-119503800	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:119501800-119503200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:119501800-119503200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr1:119501800-119503800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:119501800-119503800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:119501800-119504200	Genic enhancers	Fetal Muscle Leg	muscle
17	chr1:119501800-119504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:119501800-119504600	Enhancers	Adipose Nuclei	Adipose
19	chr1:119502000-119503000	Enhancers	A549	lung
20	chr1:119502000-119503600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:119502000-119503600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:119502200-119503200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:119502200-119503600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:119502200-119503800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:119502200-119504000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:119502200-119504000	Enhancers	HSMMtube	muscle
27	chr1:119502200-119507400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:119502400-119503000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:119502400-119503800	Enhancers	GM12878-XiMat	blood
30	chr1:119502400-119504200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:119502400-119504200	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:119502400-119504600	Enhancers	NHDF-Ad	bronchial
33	chr1:119502600-119503600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:119502600-119503600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:119502600-119503800	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:119502600-119503800	Enhancers	HSMM	muscle
37	chr1:119502600-119504600	Enhancers	Osteobl	bone
38	chr1:119502800-119503000	Enhancers	Fetal Lung	lung
39	chr1:119502800-119503000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:119502800-119503200	Flanking Active TSS	HepG2	liver
41	chr1:119502800-119503400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:119502800-119503400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:119502800-119503600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:119502800-119504000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:119502800-119504200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:119502800-119504400	Enhancers	Muscle Satellite Cultured Cells	--

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