Variant report

Variant	rs10412156
Chromosome Location	chr19:40725304-40725305
allele	G/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	FOSL2	chr19:40725204-40726345	A549	lung:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
2	MAX	chr19:40725148-40726431	A549	lung:	n/a	chr19:40725924-40725933
3	REST	chr19:40721682-40727491	PANC-1	pancreas:	n/a	chr19:40721931-40721944 chr19:40726153-40726161
4	REST	chr19:40725278-40726083	A549	lung:	n/a	n/a
5	POLR2A	chr19:40725203-40726430	PFSK-1	brain:	n/a	n/a
6	REST	chr19:40721744-40727478	PANC-1	pancreas:	n/a	chr19:40721931-40721944 chr19:40726153-40726161
7	REST	chr19:40725106-40729998	PANC-1	pancreas:	n/a	chr19:40726153-40726161
8	SRF	chr19:40725151-40726439	HCT-116	colon:	n/a	n/a
9	BCL3	chr19:40725250-40726532	A549	lung:	n/a	n/a
10	FOSL1	chr19:40725255-40726564	HCT-116	colon:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
11	TCF12	chr19:40725219-40726245	A549	lung:	n/a	n/a
12	POLR2A	chr19:40725000-40726351	PFSK-1	brain:	n/a	n/a
13	ATF3	chr19:40725207-40726283	A549	lung:	n/a	chr19:40725924-40725933

No.	Distal block	Cell Line	Cell type
1	chr19:40724342..40727794-chr19:40739430..40743149,3	K562	blood:
2	chr19:40722262..40725312-chr19:40726429..40730380,4	MCF-7	breast:
3	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:

Variant related genes	Relation type
TTC9B	TF binding region
ENSG00000130758	Chromatin interaction
ENSG00000105219	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10408405	1.00[EUR][1000 genomes]
rs10417233	1.00[MEX][hapmap]
rs10422945	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	1.00[EUR][1000 genomes]
rs11881681	1.00[EUR][1000 genomes]
rs13345497	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13346024	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1865081	1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs28407044	1.00[EUR][1000 genomes]
rs28679850	1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs4150984	1.00[EUR][1000 genomes]
rs55646097	1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs61018633	1.00[EUR][1000 genomes]
rs73559625	1.00[EUR][1000 genomes]
rs73559626	1.00[EUR][1000 genomes]
rs73559635	1.00[EUR][1000 genomes]
rs73933256	1.00[EUR][1000 genomes]
rs73933258	1.00[EUR][1000 genomes]
rs73933265	1.00[EUR][1000 genomes]
rs73933270	1.00[EUR][1000 genomes]
rs73933276	1.00[EUR][1000 genomes]
rs9676315	1.00[ASW][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
2	chr19:40723800-40729000	Weak transcription	Gastric	stomach
3	chr19:40724200-40729000	Weak transcription	Pancreas	Pancrea
4	chr19:40724400-40725400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:40724400-40725400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:40724600-40725600	Weak transcription	Brain Angular Gyrus	brain
7	chr19:40724600-40726000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr19:40724800-40725400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:40725000-40725400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:40725200-40725400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr19:40725200-40725400	Enhancers	A549	lung
12	chr19:40725200-40725400	Enhancers	Hela-S3	cervix
13	chr19:40725200-40725600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:40725200-40725600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:40725200-40725600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:40725200-40725600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:40725200-40725600	Bivalent Enhancer	Right Ventricle	heart
18	chr19:40725200-40725600	Enhancers	HMEC	breast
19	chr19:40725200-40725600	Enhancers	HUVEC	blood vessel
20	chr19:40725200-40725600	Enhancers	NH-A	brain
21	chr19:40725200-40725600	Enhancers	NHDF-Ad	bronchial
22	chr19:40725200-40725600	Enhancers	NHLF	lung
23	chr19:40725200-40725800	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr19:40725200-40725800	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr19:40725200-40726200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:40725200-40726400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr19:40725200-40726400	Enhancers	K562	blood

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