Variant report

Variant	rs72617180
Chromosome Location	chr2:233597663-233597664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12619228	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12623408	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241979	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2289912	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3816335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72617178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72617179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72617181	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72617182	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72617183	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617184	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 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	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
3	chr2:233565200-233602000	Weak transcription	HUVEC	blood vessel
4	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
5	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
7	chr2:233568000-233604400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
9	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:233571200-233598200	Weak transcription	Fetal Kidney	kidney
12	chr2:233571200-233627400	Weak transcription	Gastric	stomach
13	chr2:233571400-233601800	Weak transcription	Esophagus	oesophagus
14	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:233580600-233604000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:233585800-233604400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
20	chr2:233586400-233603200	Strong transcription	Fetal Thymus	thymus
21	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:233586800-233599000	Weak transcription	K562	blood
23	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
24	chr2:233587200-233604400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:233588400-233599600	Strong transcription	Primary T cells from cord blood	blood
27	chr2:233588800-233605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:233589000-233603600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:233589000-233605800	Strong transcription	Liver	Liver
30	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
32	chr2:233590400-233599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:233590400-233601600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:233590600-233599200	Weak transcription	NH-A	brain
35	chr2:233590600-233599400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:233590600-233599400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:233590800-233598000	Weak transcription	A549	lung
38	chr2:233590800-233601600	Weak transcription	Hela-S3	cervix
39	chr2:233591800-233602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:233592200-233601600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:233592200-233604600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:233592600-233601200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:233592800-233603000	Strong transcription	Dnd41	blood
44	chr2:233593200-233601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:233593800-233599000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:233594800-233599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:233594800-233599000	Weak transcription	Brain Angular Gyrus	brain
48	chr2:233594800-233599400	Weak transcription	HSMM	muscle
49	chr2:233594800-233599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:233594800-233611800	Weak transcription	H1 Cell Line	embryonic stem cell

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