Variant report

Variant	rs2235384
Chromosome Location	chr6:11776631-11776632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11774170..11776836-chr6:12010794..12015080,3	K562	blood:
2	chr6:11772697..11774986-chr6:11775176..11777864,2	MCF-7	breast:
3	chr6:11774814..11777232-chr6:11795284..11797623,2	K562	blood:
4	chr6:11774413..11777289-chr6:11791782..11794607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095951	Chromatin interaction

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

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

rs_ID	r²[population]
rs1018383	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10947559	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11966074	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[TSI][hapmap]
rs2056952	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60675252	0.93[ASN][1000 genomes]
rs6457838	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457840	0.93[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6457841	0.93[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6913633	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6940263	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749712	0.93[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753407	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763031	0.93[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470068	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2235384	PIP5K1P1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11771600-11779600	Weak transcription	Right Atrium	heart
2	chr6:11771800-11776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:11771800-11776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:11771800-11777000	Weak transcription	Colonic Mucosa	Colon
5	chr6:11771800-11778800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:11771800-11779000	Weak transcription	Placenta	Placenta
7	chr6:11771800-11779600	Weak transcription	Lung	lung
8	chr6:11772200-11777800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:11772200-11786000	Weak transcription	Gastric	stomach
10	chr6:11772800-11777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:11773200-11777600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:11773400-11778800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:11773600-11776800	Weak transcription	NHLF	lung
14	chr6:11773600-11778800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:11773800-11779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:11774000-11777400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:11774000-11779400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:11774000-11791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:11774200-11776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:11774200-11779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:11774200-11785600	Weak transcription	HMEC	breast
22	chr6:11775000-11777400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:11775000-11777400	Enhancers	Stomach Mucosa	stomach
24	chr6:11775400-11777200	Weak transcription	Fetal Intestine Small	intestine
25	chr6:11775400-11778400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:11775400-11779000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:11775600-11777000	Weak transcription	K562	blood
28	chr6:11775600-11779000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:11775800-11777200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:11776400-11776800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr6:11776600-11778000	Enhancers	Fetal Intestine Large	intestine

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