Variant report

Variant	rs72936068
Chromosome Location	chr2:39955595-39955596
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39946231..39948617-chr2:39954711..39957133,2	K562	blood:
2	chr2:39955286..39957836-chr2:39966525..39968843,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17024157	1.00[AMR][1000 genomes]
rs17024166	1.00[AMR][1000 genomes]
rs17024174	1.00[AMR][1000 genomes]
rs17024175	1.00[AMR][1000 genomes]
rs17024189	1.00[AMR][1000 genomes]
rs17024194	1.00[AMR][1000 genomes]
rs17024197	1.00[AMR][1000 genomes]
rs17024202	1.00[AMR][1000 genomes]
rs17024206	1.00[AMR][1000 genomes]
rs17024260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024275	1.00[AFR][1000 genomes]
rs17024278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024292	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17038962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57028848	1.00[AMR][1000 genomes]
rs57317087	1.00[AMR][1000 genomes]
rs57564028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58054718	1.00[AMR][1000 genomes]
rs58462460	1.00[AMR][1000 genomes]
rs60131290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934288	1.00[AMR][1000 genomes]
rs72934295	1.00[AMR][1000 genomes]
rs72934302	1.00[AMR][1000 genomes]
rs72936018	1.00[AMR][1000 genomes]
rs72936030	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936034	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936041	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936053	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936058	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936072	1.00[AMR][1000 genomes]
rs72936073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936078	1.00[AMR][1000 genomes]
rs72936079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936095	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936102	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938105	1.00[AMR][1000 genomes]
rs72938110	1.00[AMR][1000 genomes]
rs72938112	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938118	1.00[AMR][1000 genomes]
rs72938121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938134	1.00[AMR][1000 genomes]
rs72938145	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs990404	1.00[AMR][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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39925000-39957600	Weak transcription	Fetal Stomach	stomach
2	chr2:39931400-39957600	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:39938000-39957600	Weak transcription	Fetal Brain Female	brain
4	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:39943200-39956200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
7	chr2:39946800-39959600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:39947800-39959800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:39948200-39961200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:39948800-39959600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:39949000-39960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:39951000-39956000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:39951000-39957400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:39951000-39959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:39951000-39963600	Weak transcription	Pancreas	Pancrea
16	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:39951200-39957600	Weak transcription	Fetal Lung	lung
18	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:39951400-39957800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:39951400-39958800	Weak transcription	Aorta	Aorta
21	chr2:39951400-39960200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:39951400-39961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:39951400-39961800	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:39951400-39962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:39951400-39963800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:39952000-39956200	Weak transcription	Psoas Muscle	Psoas
27	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:39952200-39957400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:39952200-39960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:39952400-39957400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:39952400-39958800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:39952400-39962400	Weak transcription	Spleen	Spleen
33	chr2:39952600-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:39952800-39957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:39952800-39960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:39952800-39962400	Weak transcription	Fetal Kidney	kidney
37	chr2:39952800-39962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:39953000-39957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:39953000-39959400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:39953200-39957800	Weak transcription	Osteobl	bone
41	chr2:39953200-39958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:39953200-39962400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:39953400-39955600	Weak transcription	NH-A	brain
44	chr2:39953600-39959000	Weak transcription	HMEC	breast
45	chr2:39953600-39959400	Weak transcription	Esophagus	oesophagus
46	chr2:39953800-39958600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:39954000-39958800	Weak transcription	Left Ventricle	heart
48	chr2:39954400-39956200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:39954400-39956200	Weak transcription	Ovary	ovary
50	chr2:39954400-39957400	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links