Variant report

Variant	rs4293511
Chromosome Location	chr2:209187451-209187452
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7592472	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	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
5	chr2:209166600-209189000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:209170000-209190000	Weak transcription	Right Ventricle	heart
7	chr2:209170200-209189600	Weak transcription	Colonic Mucosa	Colon
8	chr2:209179000-209190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:209180400-209189800	Weak transcription	Esophagus	oesophagus
11	chr2:209180400-209189800	Weak transcription	Hela-S3	cervix
12	chr2:209180400-209190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:209180600-209189000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:209180600-209190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:209180600-209190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:209180600-209190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
18	chr2:209182200-209187600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:209182600-209188800	Weak transcription	HMEC	breast
21	chr2:209183000-209189000	Weak transcription	Brain Angular Gyrus	brain
22	chr2:209183200-209188800	Weak transcription	Fetal Kidney	kidney
23	chr2:209183200-209188800	Weak transcription	Gastric	stomach
24	chr2:209183200-209189600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:209183200-209189800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:209183200-209190000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:209183200-209190000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:209183200-209193800	Weak transcription	Fetal Brain Male	brain
29	chr2:209183400-209188800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:209183400-209188800	Weak transcription	NHLF	lung
31	chr2:209183400-209189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:209183400-209189000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:209183400-209189200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:209183400-209189600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:209183400-209189600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:209183600-209188800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:209183600-209189000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:209183800-209190000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:209183800-209190200	Weak transcription	NHEK	skin
40	chr2:209184000-209188800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:209184000-209189200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:209184400-209188800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:209184400-209188800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:209184400-209188800	Weak transcription	HUVEC	blood vessel
45	chr2:209184400-209188800	Weak transcription	NH-A	brain
46	chr2:209184400-209189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:209184400-209189800	Weak transcription	Psoas Muscle	Psoas
48	chr2:209184400-209190000	Weak transcription	Spleen	Spleen
49	chr2:209184600-209188800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:209184600-209189200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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