Variant report

Variant	rs13023287
Chromosome Location	chr2:172171640-172171641
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10454741	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11674632	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11679835	0.80[EUR][1000 genomes]
rs11687454	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11691073	0.88[AMR][1000 genomes]
rs12105780	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12989392	0.81[AMR][1000 genomes]
rs12989938	0.81[AMR][1000 genomes]
rs12995219	0.84[AMR][1000 genomes]
rs13000846	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13002817	0.88[AMR][1000 genomes]
rs13002867	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13003130	0.81[AMR][1000 genomes]
rs13023973	0.84[AMR][1000 genomes]
rs13031794	0.88[AMR][1000 genomes]
rs13398989	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2111459	0.88[AMR][1000 genomes]
rs2356707	0.86[AMR][1000 genomes]
rs34096402	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6722670	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7592018	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172163800-172181400	Weak transcription	Gastric	stomach
2	chr2:172165600-172179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:172167400-172172400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:172167600-172172400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:172167600-172174000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:172168800-172172400	Weak transcription	A549	lung
7	chr2:172168800-172174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:172169000-172172400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:172169000-172174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:172169200-172172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172169200-172175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:172169200-172175000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:172169200-172175600	Weak transcription	HepG2	liver
14	chr2:172169200-172178800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:172169200-172182400	Weak transcription	Aorta	Aorta
16	chr2:172169200-172193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:172169400-172173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:172169400-172179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:172169600-172175200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:172169600-172179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:172169800-172177200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:172169800-172181200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:172169800-172183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:172170200-172192800	Weak transcription	Fetal Intestine Large	intestine
25	chr2:172170400-172172200	Weak transcription	HUVEC	blood vessel
26	chr2:172170400-172173200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:172170600-172172400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:172170600-172178000	Weak transcription	Dnd41	blood
29	chr2:172170800-172172000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:172170800-172175600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:172170800-172177800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:172171000-172172400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:172171000-172172400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:172171000-172173200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:172171000-172173200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:172171000-172175200	Weak transcription	Primary T cells from cord blood	blood
37	chr2:172171000-172177400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:172171200-172172400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:172171200-172175000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:172171200-172175200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:172171200-172175200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:172171200-172178000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:172171400-172190800	Weak transcription	Esophagus	oesophagus
44	chr2:172171600-172171800	Enhancers	Brain Substantia Nigra	brain
45	chr2:172171600-172172200	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:172171600-172172200	Weak transcription	GM12878-XiMat	blood
47	chr2:172171600-172172400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:172171600-172172600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:172171600-172174000	Weak transcription	NHEK	skin
50	chr2:172171600-172176000	Weak transcription	K562	blood

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