Variant report

Variant	rs59458664
Chromosome Location	chr2:234347044-234347045
allele	A/G
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:28)

rs_ID	r²[population]
rs11888993	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11897617	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13391864	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13392183	0.86[EUR][1000 genomes]
rs13393578	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13400471	0.85[ASN][1000 genomes]
rs13403169	0.85[ASN][1000 genomes]
rs13406462	0.94[EUR][1000 genomes]
rs13406655	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13414407	0.85[ASN][1000 genomes]
rs13419277	0.85[ASN][1000 genomes]
rs13425849	0.89[ASN][1000 genomes]
rs2305541	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28444082	0.85[ASN][1000 genomes]
rs28506837	0.85[ASN][1000 genomes]
rs28588417	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2924809	0.89[ASN][1000 genomes]
rs2924813	0.93[ASN][1000 genomes]
rs2971869	0.93[ASN][1000 genomes]
rs2971870	0.89[ASN][1000 genomes]
rs2971871	0.91[ASN][1000 genomes]
rs2971872	0.91[ASN][1000 genomes]
rs6713866	0.83[ASN][1000 genomes]
rs73117507	0.85[ASN][1000 genomes]
rs73117551	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73117559	0.91[ASN][1000 genomes]
rs7572257	0.85[ASN][1000 genomes]
rs7724	0.93[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	chr2:234343000-234347800	Strong transcription	Adipose Nuclei	Adipose
19	chr2:234343000-234349200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:234343000-234349400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:234343000-234350600	Genic enhancers	Gastric	stomach
22	chr2:234343000-234351000	Strong transcription	Colonic Mucosa	Colon
23	chr2:234343000-234351800	Strong transcription	Fetal Thymus	thymus
24	chr2:234343000-234352000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:234343000-234352000	Strong transcription	Liver	Liver
26	chr2:234343000-234352000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
28	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:234343200-234347200	Strong transcription	Ovary	ovary
30	chr2:234343200-234348200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:234343200-234348400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:234343200-234349600	Strong transcription	HepG2	liver
33	chr2:234343200-234350400	Strong transcription	Rectal Smooth Muscle	rectum
34	chr2:234343200-234350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:234343200-234351000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:234343200-234351600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:234343200-234351600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:234343200-234352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:234343200-234352000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:234343200-234352200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:234343200-234352200	Strong transcription	Fetal Stomach	stomach
42	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:234343400-234348200	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr2:234343400-234348800	Strong transcription	Placenta	Placenta
45	chr2:234343400-234349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:234343400-234350800	Strong transcription	Aorta	Aorta
47	chr2:234343400-234351000	Strong transcription	Thymus	Thymus
48	chr2:234343400-234357400	Strong transcription	Fetal Intestine Small	intestine
49	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:234343600-234347200	Strong transcription	HSMM	muscle

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