Variant report

Variant	rs72895800
Chromosome Location	chr2:38938738-38938739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38935545..38937747-chr2:38938449..38940333,2	K562	blood:
2	chr2:38932689..38934985-chr2:38937003..38939223,2	K562	blood:
3	chr2:38937073..38939995-chr2:38978393..38980082,2	K562	blood:
4	chr2:38938428..38940592-chr2:38945131..38949430,3	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12105897	0.90[AFR][1000 genomes]
rs1465654	0.90[AFR][1000 genomes]
rs17023048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112193	1.00[AMR][1000 genomes]
rs34708402	0.83[AFR][1000 genomes]
rs59850365	0.80[AFR][1000 genomes]
rs6727533	1.00[AMR][1000 genomes]
rs72895775	0.80[AFR][1000 genomes]
rs72895788	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72897917	1.00[AMR][1000 genomes]

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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv961401	chr2:38924660-38941942	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1800555	chr2:38929745-38950126	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1830359	chr2:38929745-38950126	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38905000-38947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:38909200-38947800	Weak transcription	Right Ventricle	heart
5	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:38909600-38947800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:38910000-38948000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:38913800-38938800	Weak transcription	Fetal Brain Male	brain
9	chr2:38914600-38948000	Weak transcription	Spleen	Spleen
10	chr2:38915800-38947200	Weak transcription	Ovary	ovary
11	chr2:38916800-38938800	Weak transcription	Fetal Lung	lung
12	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:38918600-38947600	Weak transcription	Hela-S3	cervix
14	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:38920200-38942600	Weak transcription	Aorta	Aorta
16	chr2:38920400-38947800	Weak transcription	Esophagus	oesophagus
17	chr2:38921400-38947400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:38921600-38938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:38921600-38942800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:38927400-38947600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:38928200-38947800	Weak transcription	Stomach Mucosa	stomach
23	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
24	chr2:38930000-38940000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:38930000-38946800	Weak transcription	Right Atrium	heart
26	chr2:38930000-38956600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:38930600-38947000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:38930600-38965000	Weak transcription	Gastric	stomach
29	chr2:38930800-38943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:38931000-38943000	Weak transcription	NHLF	lung
31	chr2:38931000-38943200	Weak transcription	NHDF-Ad	bronchial
32	chr2:38931200-38948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:38931600-38944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:38932400-38947600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:38932600-38942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:38932600-38942800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:38932600-38943000	Weak transcription	Osteobl	bone
38	chr2:38932600-38947800	Weak transcription	Pancreas	Pancrea
39	chr2:38932800-38938800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:38932800-38947000	Weak transcription	Lung	lung
41	chr2:38932800-38956800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:38933200-38947600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:38933800-38947800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:38934800-38947600	Weak transcription	K562	blood
45	chr2:38936000-38940000	Strong transcription	Fetal Intestine Large	intestine
46	chr2:38936200-38940800	Strong transcription	Liver	Liver
47	chr2:38936200-38941000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:38936200-38942400	Weak transcription	A549	lung
49	chr2:38936400-38938800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:38936400-38957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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