Variant report

Variant	rs2801388
Chromosome Location	chr1:62987112-62987113
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1168043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690767	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927755	1.00[AMR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-62999800	Weak transcription	Gastric	stomach
2	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
3	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
5	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
7	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:62954000-63003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
11	chr1:62957800-62998200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:62958200-63010800	Weak transcription	Brain Substantia Nigra	brain
14	chr1:62958200-63061000	Weak transcription	Lung	lung
15	chr1:62958400-62997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:62958400-62998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:62960000-62998200	Weak transcription	HMEC	breast
18	chr1:62960200-62999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:62960400-63004400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:62960400-63011800	Weak transcription	Pancreas	Pancrea
21	chr1:62961600-62993600	Weak transcription	HUVEC	blood vessel
22	chr1:62968400-63000200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:62970600-62998200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:62973400-62995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:62973600-62993600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:62973600-62993800	Weak transcription	Placenta	Placenta
27	chr1:62977000-63004800	Weak transcription	NHLF	lung
28	chr1:62978600-62997600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:62978600-62999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:62978800-63002000	Weak transcription	NH-A	brain
31	chr1:62979000-62998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:62979200-62997600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:62979200-63026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:62979400-62999200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:62979600-62990200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:62979600-62991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:62979600-62994200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:62979600-62998200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:62979600-62998400	Weak transcription	Ovary	ovary
40	chr1:62979600-62999600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:62979600-63000000	Weak transcription	Left Ventricle	heart
42	chr1:62979600-63030200	Weak transcription	NHEK	skin
43	chr1:62981200-62987800	Weak transcription	Liver	Liver
44	chr1:62981200-62991600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:62981400-63003400	Weak transcription	Fetal Kidney	kidney
46	chr1:62981600-63004600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:62982800-63010200	Weak transcription	A549	lung
48	chr1:62983600-62989600	Weak transcription	HepG2	liver
49	chr1:62983600-62990200	Weak transcription	Fetal Intestine Small	intestine
50	chr1:62984200-63028000	Weak transcription	Esophagus	oesophagus

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