Variant report

Variant	rs8100626
Chromosome Location	chr19:18333894-18333895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18302080..18305763-chr19:18333769..18336252,4	K562	blood:
2	chr19:18333775..18336002-chr19:19042076..19044771,2	K562	blood:
3	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
4	chr19:18312530..18316975-chr19:18331566..18338113,9	K562	blood:
5	chr19:18312530..18319182-chr19:18329520..18338113,19	K562	blood:
6	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
7	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:

Variant related genes	Relation type
ENSG00000130522	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1046565	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs11881258	0.91[EUR][1000 genomes]
rs12460619	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12461021	0.90[EUR][1000 genomes]
rs12462801	0.91[EUR][1000 genomes]
rs17683509	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs17683539	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2049050	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2074973	0.81[JPT][hapmap]
rs2229228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3803919	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs4458132	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808764	0.81[JPT][hapmap]
rs4808768	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55650549	0.91[EUR][1000 genomes]
rs62120367	0.83[EUR][1000 genomes]
rs62120368	0.89[EUR][1000 genomes]
rs62120382	0.90[EUR][1000 genomes]
rs62120383	0.91[EUR][1000 genomes]
rs62120385	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62120388	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62120393	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7245576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7246274	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259695	0.86[EUR][1000 genomes]
rs8104010	0.88[EUR][1000 genomes]
rs8109807	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
11	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
13	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8100626	KIAA1683	cis	cerebellum	SCAN
rs8100626	ZNF429	cis	cerebellum	SCAN
rs8100626	ZNF738	cis	parietal	SCAN
rs8100626	OR7A10	cis	cerebellum	SCAN
rs8100626	UBA52	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18316200-18335000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18319400-18335000	Weak transcription	Right Atrium	heart
3	chr19:18326200-18334800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:18329400-18334800	Weak transcription	Esophagus	oesophagus
5	chr19:18329600-18334800	Weak transcription	NHLF	lung
6	chr19:18331600-18334600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:18331600-18334600	Weak transcription	Spleen	Spleen
8	chr19:18331800-18334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:18331800-18334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:18332200-18334400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:18332200-18334600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:18332200-18334800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:18332200-18334800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:18332200-18334800	Weak transcription	Pancreas	Pancrea
15	chr19:18332400-18334400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:18332400-18334800	Weak transcription	Liver	Liver
17	chr19:18333200-18334400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:18333400-18334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:18333400-18334400	Weak transcription	K562	blood
20	chr19:18333400-18334600	Enhancers	HepG2	liver

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