Variant report

Variant	rs1335655
Chromosome Location	chr13:29800651-29800652
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	chr13:29754593..29756935-chr13:29798508..29800857,2	K562	blood:
2	chr13:29798482..29800939-chr13:29808529..29811047,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1111373	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1335662	0.92[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs1577477	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927830	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs1927833	0.88[ASW][hapmap];0.85[CEU][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs1999716	1.00[CEU][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2182989	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3930809	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs3932642	0.96[EUR][1000 genomes]
rs4559776	0.83[CHB][hapmap]
rs4769687	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4769691	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs4769697	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5010846	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56332852	0.82[EUR][1000 genomes]
rs7987149	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7992989	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7997471	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8000236	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9314940	0.81[ASN][1000 genomes]
rs9508311	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9551608	0.84[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9551612	0.84[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551615	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9579301	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9579304	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs989845	0.88[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs989846	0.88[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533835	chr13:29141132-29962069	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3406145	chr13:29616606-29917459	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899957	chr13:29720732-29820422	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899958	chr13:29752497-29820422	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv899959	chr13:29752497-29832613	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv976	chr13:29759458-29804146	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3433497	chr13:29786122-29917797	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3347671	chr13:29786276-29922806	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3371345	chr13:29786316-29922762	Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1335655	KCNH1	trans	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29798200-29801000	Weak transcription	Fetal Stomach	stomach
2	chr13:29798400-29806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:29799400-29801000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:29799400-29801400	Weak transcription	Colon Smooth Muscle	Colon
5	chr13:29799400-29801600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:29799400-29807400	Weak transcription	Aorta	Aorta
7	chr13:29800400-29800800	Weak transcription	Fetal Heart	heart

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