Variant report

Variant	rs12156345
Chromosome Location	chr8:10752537-10752538
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10695965..10697529-chr8:10751213..10753567,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XKR6-1	chr8:10751007-10754356	ucscGeneNc_uc003wtj_2

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10503409	1.00[CHD][hapmap]
rs11776368	1.00[CHD][hapmap]
rs11998382	1.00[CHD][hapmap]
rs12375394	1.00[CHD][hapmap]
rs12750	1.00[CHD][hapmap]
rs17720365	1.00[CHD][hapmap]
rs17776427	1.00[CHD][hapmap]
rs17776622	1.00[CHD][hapmap]
rs17776946	1.00[CHD][hapmap]
rs2409654	1.00[CHD][hapmap]
rs2409655	1.00[CHD][hapmap]
rs28566988	0.88[AMR][1000 genomes]
rs4240671	1.00[CHD][hapmap]
rs4310166	1.00[CHD][hapmap];0.82[YRI][hapmap]
rs4326350	1.00[CHD][hapmap]
rs4841458	1.00[CHD][hapmap]
rs56043061	0.95[AMR][1000 genomes]
rs7009920	1.00[CHD][hapmap]
rs73192809	0.95[AMR][1000 genomes]
rs73196838	0.90[AMR][1000 genomes]
rs73209947	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7838335	1.00[CHD][hapmap]
rs9650658	1.00[CHD][hapmap]
rs9650659	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12156345	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10720800-10756200	Weak transcription	Pancreas	Pancrea
2	chr8:10748800-10753000	Weak transcription	Right Atrium	heart
3	chr8:10749400-10755800	Weak transcription	Spleen	Spleen
4	chr8:10750800-10757200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:10751400-10752800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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