Variant report

Variant	rs57201420
Chromosome Location	chr2:172276191-172276192
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172269451..172273904-chr2:172275650..172277742,4	K562	blood:
2	chr2:171786011..171788954-chr2:172272838..172276305,3	K562	blood:
3	chr2:172016778..172019074-chr2:172275483..172277991,2	K562	blood:
4	chr2:171786011..171788954-chr2:172274093..172276305,2	K562	blood:
5	chr2:172270914..172275149-chr2:172275462..172279658,6	K562	blood:
6	chr2:172275941..172278466-chr2:172289545..172291121,2	MCF-7	breast:
7	chr2:172016379..172018199-chr2:172275911..172278687,2	MCF-7	breast:
8	chr2:172271335..172273049-chr2:172276074..172277809,2	MCF-7	breast:
9	chr2:171829670..171831937-chr2:172274360..172276442,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10208808	1.00[AMR][1000 genomes]
rs56195778	1.00[AMR][1000 genomes]
rs73979405	1.00[AMR][1000 genomes]
rs73979406	1.00[AMR][1000 genomes]
rs73979415	1.00[AMR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:172266400-172277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:172266400-172280400	Weak transcription	Esophagus	oesophagus
5	chr2:172266400-172280400	Weak transcription	Left Ventricle	heart
6	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
7	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
8	chr2:172268800-172289200	Weak transcription	HSMM	muscle
9	chr2:172269000-172280400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:172269200-172280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172269600-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:172272600-172277200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:172272600-172277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:172272600-172277600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:172272600-172278800	Weak transcription	NHEK	skin
16	chr2:172272600-172279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:172272600-172282000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:172272600-172287200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
21	chr2:172272800-172277000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:172272800-172277600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:172272800-172277800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:172272800-172279000	Weak transcription	A549	lung
25	chr2:172272800-172279200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:172272800-172279400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:172273000-172279200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:172273000-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:172273000-172283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:172273200-172279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:172273200-172279400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:172273400-172279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:172273400-172279400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:172274200-172279200	Weak transcription	K562	blood
35	chr2:172275200-172276400	Enhancers	Fetal Intestine Small	intestine
36	chr2:172275200-172276600	Enhancers	Fetal Intestine Large	intestine
37	chr2:172275600-172279200	ZNF genes & repeats	GM12878-XiMat	blood

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