Variant report

Variant	rs1332636
Chromosome Location	chr1:62375977-62375978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1332637	1.00[GIH][hapmap];0.95[MEX][hapmap]
rs2482850	0.85[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap]
rs2482851	0.85[CEU][hapmap]
rs2482852	0.95[CEU][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2482853	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2482854	0.83[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs2482855	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2482856	0.85[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs2482857	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2499002	0.84[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][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:66 , 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	chr1:62336600-62380000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:62340400-62399200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:62346000-62389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:62350200-62397600	Weak transcription	Esophagus	oesophagus
10	chr1:62350600-62380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:62350600-62391600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:62350800-62395800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:62350800-62397800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:62350800-62417600	Weak transcription	Ovary	ovary
16	chr1:62353400-62378400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:62353400-62380200	Weak transcription	Aorta	Aorta
18	chr1:62353600-62396000	Weak transcription	Fetal Kidney	kidney
19	chr1:62353800-62385400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:62353800-62408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:62361200-62390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:62361600-62382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:62361600-62391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:62361600-62408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:62361800-62376200	Weak transcription	Fetal Stomach	stomach
26	chr1:62362000-62408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:62363000-62391800	Weak transcription	Stomach Mucosa	stomach
28	chr1:62363400-62391400	Weak transcription	A549	lung
29	chr1:62363800-62377000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:62364600-62380200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:62366200-62379000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:62367000-62378600	Weak transcription	HepG2	liver
33	chr1:62367600-62380200	Weak transcription	Liver	Liver
34	chr1:62369000-62376400	Weak transcription	Fetal Intestine Small	intestine
35	chr1:62370000-62379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:62370400-62376800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:62371200-62376800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:62372200-62379000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:62372400-62382200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:62372400-62408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:62372600-62380400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:62372600-62384200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:62372600-62385000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:62372800-62382800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:62373400-62387400	Weak transcription	NHEK	skin
47	chr1:62373600-62376200	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:62374000-62376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:62374000-62376400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:62374000-62376800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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