Variant report

Variant	rs67502847
Chromosome Location	chr4:30918000-30918001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:30917959-30918971	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:30917786..30919425-chr4:30920654..30922695,2	K562	blood:

Variant related genes	Relation type
PCDH7	TF binding region
ENSG00000169851	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10939323	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10939324	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12640768	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12641355	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12641436	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12642486	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12643430	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12650559	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13101341	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123980	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34280337	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34317883	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34347677	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35231537	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35427881	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35580687	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36048465	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4359861	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4386561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532197	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4692106	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4692108	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4692482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4692486	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5014904	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56829853	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59134115	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67044628	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72619194	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72619195	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72619196	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72619197	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72619198	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72619199	0.89[AMR][1000 genomes];0.97[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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr4:30914200-30918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:30914200-30918200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:30914200-30923800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:30914200-30947200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:30914400-30918000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:30914400-30918000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:30914400-30918000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:30914400-30918000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:30914400-30918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:30914400-30919400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:30914400-30928200	Weak transcription	Fetal Lung	lung
12	chr4:30914400-30940600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:30917200-30918200	Weak transcription	Aorta	Aorta
14	chr4:30917600-30922400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:30917800-30918400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:30917800-30919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:30918000-30918600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:30918000-30919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:30918000-30919200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:30918000-30919400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:30918000-30919600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links