Variant report

Variant	rs1022178
Chromosome Location	chr1:220541033-220541034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220536671..220538560-chr1:220540237..220541993,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10157169	0.81[AFR][1000 genomes]
rs10157171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10746397	0.85[AFR][1000 genomes]
rs10863547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10863548	0.85[AFR][1000 genomes]
rs11118540	0.85[AFR][1000 genomes]
rs1338769	0.85[AFR][1000 genomes]
rs1338772	0.85[AFR][1000 genomes]
rs1511696	0.85[AFR][1000 genomes]
rs1999935	0.82[AFR][1000 genomes]
rs1999937	0.85[AFR][1000 genomes]
rs2185158	0.81[YRI][hapmap]
rs2221832	0.82[AFR][1000 genomes]
rs3860320	0.89[AFR][1000 genomes]
rs4105051	0.85[AFR][1000 genomes]
rs4282827	0.85[AFR][1000 genomes]
rs6684421	0.85[AFR][1000 genomes]
rs7554825	0.85[AFR][1000 genomes]
rs907417	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220531600-220542200	Weak transcription	Left Ventricle	heart
2	chr1:220536200-220541600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:220536800-220541400	Weak transcription	Osteobl	bone
4	chr1:220536800-220541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:220537000-220541600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:220537000-220543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:220537000-220544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:220537200-220541400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:220537200-220541600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:220537200-220541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:220537200-220542200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:220537600-220541600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:220537600-220541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220538200-220541600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:220538600-220541600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:220538600-220541600	Weak transcription	Right Ventricle	heart
17	chr1:220538800-220541200	Weak transcription	NHDF-Ad	bronchial
18	chr1:220540600-220544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:220541000-220542800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:220541000-220543400	Enhancers	Hela-S3	cervix
21	chr1:220541000-220544400	Enhancers	HSMMtube	muscle

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