Variant report

Variant	rs1978823
Chromosome Location	chr2:209186936-209186937
allele	A/G
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:8)

rs_ID	r²[population]
rs12624141	0.82[AFR][1000 genomes]
rs4673400	0.91[AFR][1000 genomes]
rs6414168	0.83[AFR][1000 genomes]
rs6435447	0.91[AFR][1000 genomes]
rs6728314	0.91[AFR][1000 genomes]
rs6744236	0.83[AFR][1000 genomes]
rs7596571	0.91[AFR][1000 genomes]
rs7604977	0.82[AFR][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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
3	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:209163400-209187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
8	chr2:209166600-209189000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:209170000-209190000	Weak transcription	Right Ventricle	heart
10	chr2:209170200-209189600	Weak transcription	Colonic Mucosa	Colon
11	chr2:209174000-209187400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:209178800-209187400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:209179000-209190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:209180400-209189800	Weak transcription	Esophagus	oesophagus
16	chr2:209180400-209189800	Weak transcription	Hela-S3	cervix
17	chr2:209180400-209190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:209180600-209187200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:209180600-209189000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:209180600-209190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:209180600-209190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:209180600-209190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
24	chr2:209181200-209187000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:209182000-209187200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:209182000-209187400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:209182000-209187400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:209182000-209187400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:209182200-209187000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:209182200-209187000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:209182200-209187000	Strong transcription	Primary T cells from cord blood	blood
32	chr2:209182200-209187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:209182200-209187200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:209182200-209187400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:209182200-209187400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:209182200-209187400	Strong transcription	Liver	Liver
37	chr2:209182200-209187400	Strong transcription	Dnd41	blood
38	chr2:209182200-209187600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:209182600-209187000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:209182600-209188800	Weak transcription	HMEC	breast
42	chr2:209183000-209189000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:209183200-209188800	Weak transcription	Fetal Kidney	kidney
44	chr2:209183200-209188800	Weak transcription	Gastric	stomach
45	chr2:209183200-209189600	Weak transcription	Brain Substantia Nigra	brain
46	chr2:209183200-209189800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:209183200-209190000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:209183200-209190000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:209183200-209193800	Weak transcription	Fetal Brain Male	brain
50	chr2:209183400-209188800	Weak transcription	Primary hematopoietic stem cells	blood

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