Variant report

Variant	rs2499007
Chromosome Location	chr1:62380158-62380159
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12090332	1.00[YRI][hapmap]
rs12141280	1.00[YRI][hapmap]
rs12756068	1.00[YRI][hapmap]
rs2482854	1.00[YRI][hapmap]
rs2499004	1.00[YRI][hapmap]
rs6698656	1.00[YRI][hapmap]

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	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
2	chr1:62317800-62390400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:62331800-62384200	Weak transcription	Gastric	stomach
4	chr1:62336000-62408600	Weak transcription	Pancreas	Pancrea
5	chr1:62340400-62399200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:62346000-62389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:62350200-62397600	Weak transcription	Esophagus	oesophagus
9	chr1:62350600-62380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:62350600-62391600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:62350800-62395800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:62350800-62397800	Weak transcription	Primary T cells from cord blood	blood
14	chr1:62350800-62417600	Weak transcription	Ovary	ovary
15	chr1:62353400-62380200	Weak transcription	Aorta	Aorta
16	chr1:62353600-62396000	Weak transcription	Fetal Kidney	kidney
17	chr1:62353800-62385400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:62353800-62408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:62361200-62390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:62361600-62382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:62361600-62391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:62361600-62408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:62362000-62408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:62363000-62391800	Weak transcription	Stomach Mucosa	stomach
25	chr1:62363400-62391400	Weak transcription	A549	lung
26	chr1:62364600-62380200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:62367600-62380200	Weak transcription	Liver	Liver
28	chr1:62372400-62382200	Weak transcription	Adipose Nuclei	Adipose
29	chr1:62372400-62408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:62372600-62380400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:62372600-62384200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:62372600-62385000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:62372800-62382800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:62373400-62387400	Weak transcription	NHEK	skin
36	chr1:62374400-62380200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:62374400-62388000	Weak transcription	HMEC	breast
38	chr1:62374600-62382200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:62374600-62410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:62374800-62386400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:62375200-62404600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:62375600-62386000	Weak transcription	Lung	lung
43	chr1:62376000-62380200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:62376200-62380200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:62376200-62417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:62376400-62380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:62376400-62386000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:62376600-62380600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:62376600-62383400	Weak transcription	Fetal Stomach	stomach
50	chr1:62376800-62380200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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