Variant report

Variant	rs10790917
Chromosome Location	chr11:127645687-127645688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10790920	0.80[EUR][1000 genomes]
rs10893753	0.80[EUR][1000 genomes]
rs12799628	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925665	0.82[EUR][1000 genomes]
rs890135	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898445	chr11:127377733-127713173	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1037485	chr11:127582314-128301106	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3467175	chr11:127622433-127656116	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv3467197	chr11:127622467-127656115	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv3467186	chr11:127622501-127656078	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3467208	chr11:127622501-127656078	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv1816529	chr11:127623438-127655008	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv1819125	chr11:127623438-127656815	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	esv1818193	chr11:127623438-127663921	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1818616	chr11:127625130-127653770	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv1822544	chr11:127631883-127658538	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv1820570	chr11:127634121-127653948	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	esv1816272	chr11:127634133-127653960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	esv1817427	chr11:127634133-127653960	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10790917	KCNJ1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:127639800-127645800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:127644800-127645800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:127644800-127646200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:127645200-127645800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:127645200-127646000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:127645200-127646000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:127645400-127645800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:127645400-127646400	Enhancers	iPS-15b Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links