Variant report

Variant	rs72831838
Chromosome Location	chr2:114016401-114016402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13405033	0.81[EUR][1000 genomes]
rs35836064	0.81[EUR][1000 genomes]
rs6542125	0.88[EUR][1000 genomes]
rs6542126	0.87[EUR][1000 genomes]
rs66775912	0.81[EUR][1000 genomes]
rs67081417	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6758928	0.88[EUR][1000 genomes]
rs67626501	0.88[EUR][1000 genomes]
rs67776659	0.81[EUR][1000 genomes]
rs72831810	1.00[ASN][1000 genomes]
rs7558326	0.88[EUR][1000 genomes]
rs7580516	0.86[EUR][1000 genomes]
rs7585510	0.88[EUR][1000 genomes]
rs7595282	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999600-114028400	Weak transcription	Ovary	ovary
3	chr2:114007200-114016800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:114009800-114019000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
6	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:114013200-114019600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:114013400-114017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:114013400-114018200	Weak transcription	Fetal Kidney	kidney
10	chr2:114013600-114020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:114013800-114019800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:114014000-114018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:114014400-114016600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:114015200-114016800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:114015200-114018600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:114015200-114022400	Weak transcription	Fetal Thymus	thymus
17	chr2:114015200-114022800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:114015400-114017200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:114015400-114018400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:114015600-114016800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:114015600-114016800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:114015600-114017800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:114015600-114018200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:114015800-114017000	Weak transcription	Lung	lung
25	chr2:114015800-114018000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:114015800-114018200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:114015800-114018400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:114015800-114023600	Weak transcription	HSMM	muscle
29	chr2:114016000-114016600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:114016000-114016800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:114016000-114017600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:114016000-114018200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:114016000-114018400	Strong transcription	Placenta	Placenta
34	chr2:114016000-114019200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:114016200-114016600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:114016200-114018200	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:114016200-114018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:114016200-114020400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:114016200-114022200	Weak transcription	Primary T cells from cord blood	blood
40	chr2:114016200-114023600	Weak transcription	HSMMtube	muscle
41	chr2:114016200-114028000	Weak transcription	Fetal Brain Female	brain
42	chr2:114016400-114017200	Strong transcription	Dnd41	blood
43	chr2:114016400-114017600	Strong transcription	Fetal Stomach	stomach
44	chr2:114016400-114019400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr2:114016400-114026000	Weak transcription	Fetal Heart	heart

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