Variant report

Variant	rs10798783
Chromosome Location	chr1:180567428-180567429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180563278..180564789-chr1:180567312..180569101,2	K562	blood:
2	chr1:180557012..180559054-chr1:180567214..180568845,2	K562	blood:
3	chr1:180550479..180555497-chr1:180560043..180567544,7	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10494530	0.91[CHB][hapmap]
rs10737348	0.91[CHB][hapmap]
rs3845403	0.91[CHB][hapmap]
rs3845404	0.91[CHB][hapmap]
rs3856055	0.91[CHB][hapmap]
rs3915572	0.96[ASN][1000 genomes]
rs4144583	0.91[CHB][hapmap]
rs4651072	0.94[ASN][1000 genomes]
rs7519155	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7521872	0.91[CHB][hapmap]
rs7554099	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10798783	C1orf220	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180564200-180567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:180564400-180572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:180564800-180567600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:180564800-180567600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:180564800-180579600	Weak transcription	Right Atrium	heart
6	chr1:180565000-180567800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:180566200-180568600	Enhancers	Fetal Brain Female	brain
8	chr1:180567000-180568600	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:180567000-180568600	Enhancers	Fetal Brain Male	brain
10	chr1:180567200-180567800	Enhancers	HepG2	liver
11	chr1:180567200-180568600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:180567200-180568600	Flanking Active TSS	A549	lung
13	chr1:180567400-180568000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:180567400-180568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:180567400-180568200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180567400-180568200	Enhancers	Pancreas	Pancrea
17	chr1:180567400-180568200	Enhancers	K562	blood
18	chr1:180567400-180568400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:180567400-180569000	Enhancers	Fetal Intestine Large	intestine
20	chr1:180567400-180569200	Enhancers	Fetal Intestine Small	intestine

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