Variant report

Variant	rs1609181
Chromosome Location	chr7:120143507-120143508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10081324	0.89[ASN][1000 genomes]
rs10156125	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10224280	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10224891	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[EUR][1000 genomes]
rs10227379	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228326	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10234674	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10239065	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10242908	1.00[CHD][hapmap]
rs10244347	1.00[ASN][1000 genomes]
rs10245675	0.95[EUR][1000 genomes]
rs10247657	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10248007	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10248263	1.00[ASN][1000 genomes]
rs10249197	1.00[ASN][1000 genomes]
rs10253512	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10257622	1.00[ASN][1000 genomes]
rs10257987	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10259436	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260490	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10262476	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10265695	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10268591	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10270560	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10270911	0.95[EUR][1000 genomes]
rs10272979	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10273127	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10277086	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[EUR][1000 genomes]
rs10278264	0.95[EUR][1000 genomes]
rs10282150	0.95[EUR][1000 genomes]
rs10488302	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11536582	0.95[EUR][1000 genomes]
rs12111645	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[EUR][1000 genomes]
rs12111791	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[EUR][1000 genomes]
rs12171571	0.95[EUR][1000 genomes]
rs13438753	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1527650	1.00[CHD][hapmap]
rs16870516	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17142782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs17142844	0.95[EUR][1000 genomes]
rs17142852	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17142856	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17142860	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17283053	0.95[EUR][1000 genomes]
rs17347436	0.95[EUR][1000 genomes]
rs17355253	0.95[EUR][1000 genomes]
rs2049643	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[EUR][1000 genomes]
rs28454884	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540347	1.00[CHD][hapmap]
rs60967957	0.95[EUR][1000 genomes]
rs6466749	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6950392	1.00[ASN][1000 genomes]
rs6970111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970412	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6978574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73441852	0.95[EUR][1000 genomes]
rs7357188	1.00[ASN][1000 genomes]
rs7357256	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9886093	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9886190	1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9886214	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv889116	chr7:120098304-120180671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv889117	chr7:120122040-120266458	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1609181	KCND2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120142200-120143600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:120142600-120143600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:120142800-120143600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:120142800-120143600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:120142800-120146000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:120142800-120146400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:120143000-120147400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:120143200-120144400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:120143200-120152000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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