Variant report

Variant	rs7592018
Chromosome Location	chr2:172171036-172171037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172016874..172018492-chr2:172168986..172171114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10454741	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11674632	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11679835	0.87[EUR][1000 genomes]
rs11687454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11691073	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12105780	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12989392	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12989938	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12995219	0.84[AMR][1000 genomes]
rs13000846	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13002817	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13002867	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13003130	0.81[AMR][1000 genomes]
rs13005615	0.84[EUR][1000 genomes]
rs13023287	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13023973	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13031794	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13398989	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2111459	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2356707	0.86[AMR][1000 genomes]
rs34096402	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6722670	1.00[AMR][1000 genomes];0.97[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172163800-172181400	Weak transcription	Gastric	stomach
3	chr2:172165600-172179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:172167400-172172400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:172167600-172172400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:172167600-172174000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:172168800-172172400	Weak transcription	A549	lung
8	chr2:172168800-172174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:172169000-172172400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:172169000-172174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:172169200-172172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172169200-172175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:172169200-172175000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:172169200-172175600	Weak transcription	HepG2	liver
15	chr2:172169200-172178800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:172169200-172182400	Weak transcription	Aorta	Aorta
17	chr2:172169200-172193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:172169400-172173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:172169400-172179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:172169600-172175200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:172169600-172179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:172169800-172177200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:172169800-172181200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:172169800-172183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:172170200-172192800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:172170400-172172200	Weak transcription	HUVEC	blood vessel
27	chr2:172170400-172173200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:172170600-172172400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:172170600-172178000	Weak transcription	Dnd41	blood
30	chr2:172170800-172171600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:172170800-172172000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:172170800-172175600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:172170800-172177800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:172171000-172171200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:172171000-172171200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:172171000-172171600	ZNF genes & repeats	GM12878-XiMat	blood
37	chr2:172171000-172172400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:172171000-172172400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:172171000-172173200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:172171000-172173200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:172171000-172175200	Weak transcription	Primary T cells from cord blood	blood
42	chr2:172171000-172177400	Enhancers	H1 Cell Line	embryonic stem cell

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