Variant report

Variant	rs73956439
Chromosome Location	chr2:111528703-111528704
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111523805..111526448-chr2:111526979..111529518,2	K562	blood:
2	chr2:111526760..111529592-chr2:111563250..111564770,2	K562	blood:
3	chr2:111528095..111529879-chr2:111541436..111543863,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55693530	0.85[AFR][1000 genomes]
rs56019085	0.94[AFR][1000 genomes]
rs57166069	0.85[AFR][1000 genomes]
rs57431143	0.94[AFR][1000 genomes]
rs58130587	0.94[AFR][1000 genomes]
rs59952084	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61124407	0.94[AFR][1000 genomes]
rs61203060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61392982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954672	0.85[AFR][1000 genomes]
rs73956432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956436	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956438	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956450	0.82[AFR][1000 genomes]
rs73956451	0.82[AFR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111525000-111531600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:111525200-111531000	Weak transcription	Lung	lung
3	chr2:111525800-111530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:111527400-111529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:111527400-111531800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:111527600-111530200	Enhancers	Right Ventricle	heart
7	chr2:111527600-111530400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111527600-111530400	Enhancers	Left Ventricle	heart
9	chr2:111527600-111531200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:111527600-111531200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:111527600-111531600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:111527600-111531600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:111527800-111528800	Enhancers	Psoas Muscle	Psoas
14	chr2:111527800-111528800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:111527800-111529000	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr2:111527800-111529000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:111527800-111529200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr2:111527800-111530000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:111527800-111532000	Enhancers	Fetal Lung	lung
20	chr2:111528000-111528800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:111528000-111528800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
22	chr2:111528000-111529200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:111528200-111528800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:111528200-111528800	Active TSS	Brain Angular Gyrus	brain
25	chr2:111528200-111528800	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr2:111528200-111529000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:111528200-111529000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr2:111528200-111529000	Enhancers	Placenta	Placenta
29	chr2:111528200-111529000	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:111528200-111529200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:111528200-111529400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:111528200-111529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:111528200-111530800	Enhancers	Fetal Stomach	stomach
34	chr2:111528200-111531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:111528200-111531600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:111528400-111528800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr2:111528400-111528800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:111528400-111528800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:111528400-111528800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:111528400-111528800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr2:111528400-111528800	Flanking Active TSS	Fetal Brain Female	brain
42	chr2:111528400-111528800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr2:111528400-111528800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr2:111528400-111528800	Flanking Active TSS	Ovary	ovary
45	chr2:111528400-111528800	Flanking Active TSS	HSMMtube	muscle
46	chr2:111528400-111529000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:111528400-111529400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:111528400-111530200	Enhancers	Fetal Thymus	thymus
49	chr2:111528600-111528800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:111528600-111528800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links