Variant report

Variant	rs2240627
Chromosome Location	chr7:151088648-151088649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:151083610..151089811-chr7:151090269..151095277,11	K562	blood:
2	chr7:151013126..151016006-chr7:151088424..151091352,2	K562	blood:
3	chr7:151079183..151083244-chr7:151083923..151090785,10	K562	blood:
4	chr7:151081208..151084105-chr7:151086601..151088830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187260	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4726021	0.81[JPT][hapmap]
rs4726022	0.81[CHB][hapmap]
rs56217926	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][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	nsv889489	chr7:151064872-151115691	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2240627	KRBA1	cis	parietal	SCAN
rs2240627	ATP6V0E2	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151074400-151095000	Weak transcription	Fetal Kidney	kidney
2	chr7:151076800-151094800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:151077200-151094200	Weak transcription	Dnd41	blood
4	chr7:151077400-151095000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:151079400-151089200	Weak transcription	Right Atrium	heart
6	chr7:151080200-151095200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:151081000-151095200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:151081600-151094000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:151082000-151097400	Strong transcription	Fetal Brain Female	brain
10	chr7:151082800-151090400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:151083200-151089800	Weak transcription	Gastric	stomach
12	chr7:151083400-151094600	Weak transcription	Fetal Intestine Small	intestine
13	chr7:151083800-151099400	Weak transcription	Placenta	Placenta
14	chr7:151084000-151095000	Weak transcription	Fetal Lung	lung
15	chr7:151084200-151092400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:151086000-151090200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:151086400-151097000	Strong transcription	Brain Germinal Matrix	brain
18	chr7:151087000-151088800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:151087000-151089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:151087600-151088800	Strong transcription	Spleen	Spleen
21	chr7:151087800-151088800	Bivalent Enhancer	K562	blood
22	chr7:151088200-151089600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:151088200-151089600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:151088200-151089800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:151088200-151090200	Weak transcription	Fetal Thymus	thymus
26	chr7:151088400-151088800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:151088400-151090000	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links