Variant report

Variant	rs12386830
Chromosome Location	chr8:99434722-99434723
allele	C/T
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	ZNF263	chr8:99434673-99435069	HEK293-T-REx	kidney:	n/a	chr8:99434822-99434843 chr8:99434821-99434830 chr8:99434761-99434770

No.	Distal block	Cell Line	Cell type
1	chr8:99434359..99435953-chr8:99439007..99441742,2	K562	blood:
2	chr8:99432751..99435716-chr8:99435816..99437707,2	MCF-7	breast:
3	chr8:99432219..99434824-chr8:99476981..99478885,2	MCF-7	breast:
4	chr8:99433334..99435715-chr8:99442635..99445269,2	K562	blood:

Variant related genes	Relation type
KCNS2	TF binding region
ENSG00000156486	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10282835	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277523	1.00[ASN][1000 genomes]
rs16896995	1.00[ASN][1000 genomes]
rs16897028	1.00[ASN][1000 genomes]
rs16897050	1.00[ASN][1000 genomes]
rs16897058	1.00[ASN][1000 genomes]
rs16897069	1.00[ASN][1000 genomes]
rs28621642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34018826	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554439	1.00[ASN][1000 genomes]
rs4574821	1.00[ASN][1000 genomes]
rs4615538	1.00[ASN][1000 genomes]
rs55793219	1.00[ASN][1000 genomes]
rs55807423	1.00[ASN][1000 genomes]
rs55921088	1.00[ASN][1000 genomes]
rs55947965	1.00[ASN][1000 genomes]
rs56185259	1.00[ASN][1000 genomes]
rs56214625	1.00[ASN][1000 genomes]
rs56246659	1.00[ASN][1000 genomes]
rs56356780	1.00[ASN][1000 genomes]
rs6982282	1.00[ASN][1000 genomes]
rs6982285	1.00[ASN][1000 genomes]
rs72666612	1.00[ASN][1000 genomes]
rs72666616	1.00[ASN][1000 genomes]
rs72666618	1.00[ASN][1000 genomes]
rs72666619	1.00[ASN][1000 genomes]
rs72666623	1.00[ASN][1000 genomes]
rs72666624	1.00[ASN][1000 genomes]
rs72666625	1.00[ASN][1000 genomes]
rs72666629	1.00[ASN][1000 genomes]
rs72666633	1.00[ASN][1000 genomes]
rs72666638	1.00[ASN][1000 genomes]
rs72666642	1.00[ASN][1000 genomes]
rs72666643	1.00[ASN][1000 genomes]
rs72666649	1.00[ASN][1000 genomes]
rs72666652	1.00[ASN][1000 genomes]
rs72666655	1.00[ASN][1000 genomes]
rs72666661	1.00[ASN][1000 genomes]
rs72666665	1.00[ASN][1000 genomes]
rs72666666	1.00[ASN][1000 genomes]
rs72666673	1.00[ASN][1000 genomes]
rs72666676	1.00[ASN][1000 genomes]
rs72666678	1.00[ASN][1000 genomes]
rs72666680	1.00[ASN][1000 genomes]
rs72666684	1.00[ASN][1000 genomes]
rs73699303	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835203	1.00[ASN][1000 genomes]
rs7839115	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842869	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99428400-99438200	Weak transcription	Pancreas	Pancrea
2	chr8:99429000-99437000	Weak transcription	Spleen	Spleen
3	chr8:99430400-99437400	Enhancers	Fetal Heart	heart
4	chr8:99434000-99435400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:99434200-99434800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:99434200-99435200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:99434400-99434800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:99434400-99435000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:99434400-99435000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:99434400-99435400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:99434400-99435400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:99434600-99434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:99434600-99434800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:99434600-99434800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:99434600-99435000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:99434600-99436000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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