Variant report

Variant	rs17683569
Chromosome Location	chr19:18714250-18714251
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	CTCF	chr19:18714193-18714516	K562	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
2	ZBTB7A	chr19:18714141-18714494	K562	blood:	n/a	n/a
3	RAD21	chr19:18714198-18714486	K562	blood:	n/a	n/a
4	CTCF	chr19:18714240-18714390	NHEK	skin:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
5	CTCF	chr19:18714125-18714497	K562	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
6	CTCF	chr19:18714200-18714350	HRE	kidney:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
7	NR2F2	chr19:18714112-18714450	K562	blood:	n/a	n/a
8	CTCF	chr19:18714200-18714350	NB4	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
9	RAD21	chr19:18714193-18714492	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr19:18714090-18714411	K562	blood:	n/a	n/a
11	SMC3	chr19:18714188-18714452	K562	blood:	n/a	n/a
12	RAD21	chr19:18714208-18714462	HepG2	liver:	n/a	n/a
13	CTCF	chr19:18714200-18714350	HAc	cerebellar:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
14	CTCF	chr19:18714120-18714410	HEEpiC	esophagus:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
15	CTCF	chr19:18714240-18714390	HEK293	kidney:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
16	CTCF	chr19:18714240-18714390	HFF	foreskin:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
17	MAZ	chr19:18714235-18714421	K562	blood:	n/a	n/a
18	RCOR1	chr19:18714162-18714404	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:18714105-18714463	HepG2	liver:	n/a	n/a
20	CTCF	chr19:18714047-18714568	A549	lung:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
21	HDAC2	chr19:18714098-18714502	HepG2	liver:	n/a	n/a
22	CTCF	chr19:18714240-18714390	BE2_C	brain:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
23	CTCF	chr19:18714171-18714480	K562	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
24	ZBTB7A	chr19:18714131-18714376	HepG2	liver:	n/a	n/a
25	CTCF	chr19:18714200-18714350	A549	lung:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
26	CTCF	chr19:18714124-18714606	K562	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
27	MAX	chr19:18713948-18714517	HepG2	liver:	n/a	n/a
28	CTCF	chr19:18714244-18714496	H1-hESC	embryonic stem cell:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
29	CTCF	chr19:18714220-18714370	AG09309	skin:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
30	CTCF	chr19:18714240-18714390	GM12870	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
31	CTCF	chr19:18714156-18714519	H1-hESC	embryonic stem cell:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
32	CTCF	chr19:18714192-18714410	HepG2	liver:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
33	RAD21	chr19:18714101-18714608	H1-hESC	embryonic stem cell:	n/a	n/a
34	HNF4G	chr19:18714012-18714358	HepG2	liver:	n/a	chr19:18714257-18714279 chr19:18714138-18714153
35	RAD21	chr19:18714143-18714427	HepG2	liver:	n/a	n/a
36	HNF4G	chr19:18713826-18714320	HepG2	liver:	n/a	chr19:18714257-18714279 chr19:18714138-18714153
37	CTCF	chr19:18714220-18714370	BJ	skin:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
38	RAD21	chr19:18714193-18714434	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr19:18714220-18714370	HEK293	kidney:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
40	RAD21	chr19:18714235-18714419	GM12878	blood:	n/a	n/a
41	CTCF	chr19:18714242-18714495	K562	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
42	NR2F2	chr19:18714023-18714526	K562	blood:	n/a	n/a
43	CTCF	chr19:18714240-18714390	GM12866	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299
44	TEAD4	chr19:18714155-18714485	H1-hESC	embryonic stem cell:	n/a	n/a
45	HNF4A	chr19:18714044-18714283	HepG2	liver:	n/a	chr19:18714257-18714279 chr19:18714137-18714152
46	CTCF	chr19:18714240-18714390	GM12874	blood:	n/a	chr19:18714284-18714292 chr19:18714286-18714299

No.	Distal block	Cell Line	Cell type
1	chr19:18713204..18718867-chr19:18719015..18725496,7	MCF-7	breast:
2	chr19:18713933..18717054-chr19:18723624..18727026,3	K562	blood:
3	chr19:18713980..18716446-chr19:18757354..18760125,2	K562	blood:

Variant related genes	Relation type
TMEM59L	TF binding region
CRLF1	TF binding region
ENSG00000105696	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11086118	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665980	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs11668413	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs11670437	1.00[CHB][hapmap]
rs12976398	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2238648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238649	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238651	0.93[ASN][1000 genomes]
rs35322184	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs35521276	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614934	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913516	0.95[ASN][1000 genomes]
rs3764628	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs57534075	0.82[ASN][1000 genomes]
rs61298336	0.95[ASN][1000 genomes]
rs62137129	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66797780	0.80[ASN][1000 genomes]
rs71332131	0.93[ASN][1000 genomes]
rs7248611	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258589	1.00[ASW][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs72995446	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73531625	0.95[ASN][1000 genomes]
rs8101144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107912	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108207	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS 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	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv1822476	chr19:18710535-18717425	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17683569	UNC13A	cis	parietal	SCAN
rs17683569	KIAA0892	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18706200-18714400	Weak transcription	Right Atrium	heart
2	chr19:18706400-18716200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:18713000-18716200	Weak transcription	Pancreas	Pancrea
4	chr19:18713600-18716800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:18713800-18714400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:18713800-18714400	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr19:18713800-18714400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr19:18714000-18714400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr19:18714000-18714400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr19:18714000-18714400	Flanking Active TSS	HSMMtube	muscle
11	chr19:18714000-18714600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:18714000-18714800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr19:18714000-18715200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:18714000-18715400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr19:18714000-18718200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:18714200-18714400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:18714200-18714400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr19:18714200-18714400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr19:18714200-18714400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr19:18714200-18714400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:18714200-18714400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:18714200-18714400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:18714200-18714400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:18714200-18714400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:18714200-18714400	Enhancers	A549	lung
26	chr19:18714200-18714600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr19:18714200-18714600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr19:18714200-18714600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:18714200-18714600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:18714200-18714600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr19:18714200-18714600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:18714200-18714600	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr19:18714200-18714600	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr19:18714200-18714600	Flanking Active TSS	HepG2	liver
35	chr19:18714200-18714600	Bivalent Enhancer	NHLF	lung
36	chr19:18714200-18714800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:18714200-18715000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:18714200-18715000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:18714200-18715000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr19:18714200-18715000	Bivalent Enhancer	Placenta	Placenta
41	chr19:18714200-18715200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:18714200-18715200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:18714200-18715400	Flanking Active TSS	HSMM	muscle
44	chr19:18714200-18715600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:18714200-18716600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr19:18714200-18717200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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