Variant report

Variant	rs727231
Chromosome Location	chr2:172278694-172278695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172277559..172279659-chr2:172287398..172291144,6	K562	blood:
2	chr2:172270914..172275149-chr2:172275462..172279658,6	K562	blood:
3	chr2:172276387..172280583-chr2:172287398..172291133,6	K562	blood:
4	chr2:172277942..172280188-chr2:172302805..172305660,3	K562	blood:
5	chr2:172277746..172279337-chr2:172283767..172285958,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10460358	0.92[MEX][hapmap]
rs11679641	1.00[MEX][hapmap]
rs12465868	0.96[MEX][hapmap]
rs12474875	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1558963	0.89[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17285260	0.96[MEX][hapmap]
rs1921776	0.87[MEX][hapmap]
rs2356709	0.88[MEX][hapmap]
rs3821083	1.00[ASW][hapmap]
rs4668384	0.94[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55987027	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62181356	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6747400	0.89[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7590275	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs727231	WIPF1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172266400-172280400	Weak transcription	Esophagus	oesophagus
3	chr2:172266400-172280400	Weak transcription	Left Ventricle	heart
4	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
5	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
6	chr2:172268800-172289200	Weak transcription	HSMM	muscle
7	chr2:172269000-172280400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:172269200-172280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:172269600-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:172272600-172278800	Weak transcription	NHEK	skin
11	chr2:172272600-172279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:172272600-172282000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:172272600-172287200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
16	chr2:172272800-172279000	Weak transcription	A549	lung
17	chr2:172272800-172279200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:172272800-172279400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:172273000-172279200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:172273000-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:172273000-172283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:172273200-172279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:172273200-172279400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:172273400-172279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:172273400-172279400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:172274200-172279200	Weak transcription	K562	blood
27	chr2:172275600-172279200	ZNF genes & repeats	GM12878-XiMat	blood
28	chr2:172276400-172279600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:172277800-172279000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:172278000-172279200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:172278000-172288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:172278200-172289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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