Variant report

Variant	rs73042128
Chromosome Location	chr2:183731397-183731398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11888086	0.92[AFR][1000 genomes]
rs16823829	0.84[AFR][1000 genomes]
rs36077496	0.93[EUR][1000 genomes]
rs60602756	0.94[AFR][1000 genomes]
rs6733333	0.92[AFR][1000 genomes]
rs72900766	0.90[EUR][1000 genomes]
rs72900772	0.90[EUR][1000 genomes]
rs72900775	0.90[EUR][1000 genomes]
rs72900780	0.87[EUR][1000 genomes]
rs73037284	0.87[AFR][1000 genomes]
rs73037291	0.81[EUR][1000 genomes]
rs73040079	0.92[AFR][1000 genomes]
rs73040083	0.87[AFR][1000 genomes]
rs73040085	0.92[AFR][1000 genomes]
rs73040088	0.91[AFR][1000 genomes]
rs73042107	0.91[AFR][1000 genomes]
rs73042116	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042118	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042121	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042129	0.96[AFR][1000 genomes]
rs73042136	0.88[AFR][1000 genomes]
rs7561870	0.96[AFR][1000 genomes]
rs7566497	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183728200-183732400	Active TSS	Aorta	Aorta
2	chr2:183729200-183732400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:183729600-183732400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:183729800-183732400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:183729800-183732400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:183730000-183732000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:183730000-183732200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:183730000-183732600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183730000-183732800	Active TSS	Brain Angular Gyrus	brain
10	chr2:183730400-183732000	Active TSS	Brain Anterior Caudate	brain
11	chr2:183730400-183732200	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr2:183730400-183732400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:183730400-183732400	Active TSS	Brain Hippocampus Middle	brain
14	chr2:183730600-183731600	Active TSS	Colon Smooth Muscle	Colon
15	chr2:183730600-183732200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr2:183730600-183732200	Active TSS	NHDF-Ad	bronchial
17	chr2:183730600-183732400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:183730600-183732400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:183730600-183732400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:183730600-183732400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:183730800-183731400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr2:183730800-183731400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr2:183730800-183731400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:183730800-183731400	Flanking Active TSS	Esophagus	oesophagus
25	chr2:183730800-183731400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr2:183730800-183731400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
27	chr2:183730800-183731600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr2:183730800-183731600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr2:183730800-183731600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr2:183730800-183731600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr2:183730800-183731600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:183730800-183731600	Bivalent/Poised TSS	Stomach Mucosa	stomach
33	chr2:183730800-183732000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr2:183730800-183732000	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr2:183730800-183732000	Active TSS	Gastric	stomach
36	chr2:183730800-183732200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:183730800-183732200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:183730800-183732200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:183730800-183732200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr2:183730800-183732200	Flanking Active TSS	Placenta	Placenta
41	chr2:183730800-183732200	Enhancers	Lung	lung
42	chr2:183730800-183732400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:183730800-183732400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr2:183730800-183732400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr2:183730800-183732400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:183730800-183732400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr2:183730800-183732400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links