Variant report

Variant	rs72482113
Chromosome Location	chr2:234346488-234346489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234346320-234346649	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:234345949-234346634	A549	lung:	n/a	n/a
3	POLR2A	chr2:234341455-234348135	A549	lung:	n/a	n/a
4	POLR2A	chr2:234344271-234346815	GM18505	blood:	n/a	n/a

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs36047716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41264147	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41270765	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55692234	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56197570	0.87[ASN][1000 genomes]
rs56847313	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57468849	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58553955	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58817302	0.87[ASN][1000 genomes]
rs59599129	0.87[ASN][1000 genomes]
rs61214492	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61739478	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6740882	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6741894	1.00[EUR][1000 genomes]
rs72482115	1.00[EUR][1000 genomes]
rs73995971	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73995981	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73997603	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73997604	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567707	0.87[ASN][1000 genomes]
rs9941556	1.00[EUR][1000 genomes]
rs9941651	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
3	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:234338000-234358000	Weak transcription	NH-A	brain
5	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:234338800-234360800	Weak transcription	HMEC	breast
7	chr2:234339200-234360000	Weak transcription	K562	blood
8	chr2:234339600-234354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
10	chr2:234339800-234347800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:234339800-234347800	Weak transcription	Osteobl	bone
12	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
13	chr2:234341600-234357400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:234341800-234354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:234342800-234351600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:234342800-234354800	Weak transcription	Fetal Kidney	kidney
17	chr2:234342800-234358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:234343000-234346800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:234343000-234346800	Strong transcription	Brain Substantia Nigra	brain
20	chr2:234343000-234347800	Strong transcription	Adipose Nuclei	Adipose
21	chr2:234343000-234349200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:234343000-234349400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:234343000-234350600	Genic enhancers	Gastric	stomach
24	chr2:234343000-234351000	Strong transcription	Colonic Mucosa	Colon
25	chr2:234343000-234351800	Strong transcription	Fetal Thymus	thymus
26	chr2:234343000-234352000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:234343000-234352000	Strong transcription	Liver	Liver
28	chr2:234343000-234352000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
30	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:234343200-234347000	Strong transcription	NHEK	skin
32	chr2:234343200-234347200	Strong transcription	Ovary	ovary
33	chr2:234343200-234348200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:234343200-234348400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:234343200-234349600	Strong transcription	HepG2	liver
36	chr2:234343200-234350400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr2:234343200-234350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:234343200-234351000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:234343200-234351600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:234343200-234351600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:234343200-234352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:234343200-234352000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:234343200-234352200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:234343200-234352200	Strong transcription	Fetal Stomach	stomach
45	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:234343400-234346800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:234343400-234346800	Strong transcription	Brain Hippocampus Middle	brain
48	chr2:234343400-234347000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:234343400-234348200	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr2:234343400-234348800	Strong transcription	Placenta	Placenta

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