Variant report

Variant	rs61743938
Chromosome Location	chr19:18547264-18547265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18538551-18551124	K562	blood:	n/a	n/a
2	POLR2A	chr19:18545384-18548220	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:18543470-18548238	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:18544696-18549949	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
6	POLR2A	chr19:18547239-18547434	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:18545335-18548095	GM12892	blood:	n/a	n/a
8	STAT5A	chr19:18546956-18547460	GM12878	blood:	n/a	chr19:18547104-18547116
9	POLR2A	chr19:18547157-18552159	K562	blood:	n/a	n/a
10	POLR2A	chr19:18543626-18552057	K562	blood:	n/a	n/a
11	POLR2A	chr19:18544712-18548272	PFSK-1	brain:	n/a	n/a
12	CTCF	chr19:18547067-18547334	T-47D	breast:	n/a	n/a
13	POLR2A	chr19:18545196-18548142	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:18547175-18547430	GM12891	blood:	n/a	n/a
15	POLR2A	chr19:18547129-18548056	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:18546916-18549923	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:18547060-18548091	K562	blood:	n/a	n/a
18	POLR2A	chr19:18547163-18548233	U87	brain:	n/a	n/a
19	POLR2A	chr19:18544890-18547293	K562	blood:	n/a	n/a
20	ZNF263	chr19:18547098-18547562	HEK293-T-REx	kidney:	n/a	chr19:18547315-18547336
21	POLR2A	chr19:18547017-18547637	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr19:18547043-18547562	HUVEC	blood vessel:	n/a	n/a
23	E2F6	chr19:18547214-18548086	H1-hESC	embryonic stem cell:	n/a	n/a
24	ELF1	chr19:18547005-18548267	GM12878	blood:	n/a	n/a
25	MXI1	chr19:18547264-18549533	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr19:18547171-18547644	K562	blood:	n/a	n/a
27	POLR2A	chr19:18547035-18547321	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:18547146-18547265	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:18542166-18549955	SK-N-MC	brain:	n/a	n/a
30	MTA3	chr19:18545958-18548281	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:18547004-18548279	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr19:18547146-18547289	K562	blood:	n/a	n/a
33	POLR2A	chr19:18543655-18547349	K562	blood:	n/a	n/a
34	POLR2A	chr19:18544709-18548233	U87	brain:	n/a	n/a
35	POLR2A	chr19:18547119-18547368	H1-hESC	embryonic stem cell:	n/a	n/a
36	EP300	chr19:18546974-18547318	T-47D	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18546792..18548978-chr19:18667741..18669982,2	K562	blood:
2	chr19:18269587..18272195-chr19:18544788..18547771,3	K562	blood:
3	chr19:18450121..18451677-chr19:18546960..18548489,2	MCF-7	breast:
4	chr19:18314746..18317215-chr19:18546753..18549806,3	K562	blood:
5	chr19:18302931..18304464-chr19:18547111..18549483,2	K562	blood:
6	chr19:18534646..18537206-chr19:18547129..18549034,2	MCF-7	breast:
7	chr19:18546771..18549506-chr19:18943551..18946783,3	K562	blood:
8	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
9	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
10	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
11	chr19:18546603..18548898-chr19:18631485..18634393,2	MCF-7	breast:
12	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
13	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:

No data

Variant related genes	Relation type
ISYNA1	TF binding region
ENSG00000268199	TF binding region
ENSG00000005007	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10403002	1.00[AMR][1000 genomes]
rs11574806	0.87[EUR][1000 genomes]
rs16982418	1.00[EUR][1000 genomes]
rs16982427	1.00[EUR][1000 genomes]
rs16982429	1.00[EUR][1000 genomes]
rs16982485	1.00[EUR][1000 genomes]
rs2314669	0.87[EUR][1000 genomes]
rs34078075	1.00[EUR][1000 genomes]
rs34868531	1.00[EUR][1000 genomes]
rs35328461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58410315	1.00[EUR][1000 genomes]
rs58604797	1.00[EUR][1000 genomes]
rs58723610	1.00[EUR][1000 genomes]
rs58842178	1.00[EUR][1000 genomes]
rs59511380	1.00[EUR][1000 genomes]
rs59549953	1.00[EUR][1000 genomes]
rs60687616	1.00[EUR][1000 genomes]
rs61743954	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7247603	0.87[EUR][1000 genomes]
rs73523072	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73523074	0.87[EUR][1000 genomes]
rs8101976	1.00[EUR][1000 genomes]
rs8102397	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	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
15	nsv482217	chr19:18545625-18548943	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
5	chr19:18541600-18548000	Weak transcription	Stomach Mucosa	stomach
6	chr19:18542600-18548000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:18544200-18547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:18544200-18547400	Weak transcription	NHDF-Ad	bronchial
9	chr19:18544200-18547800	Weak transcription	Fetal Kidney	kidney
10	chr19:18544400-18547400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:18544400-18547400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:18544400-18547600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:18544400-18547600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:18544400-18547600	Weak transcription	HSMM	muscle
15	chr19:18544400-18547600	Strong transcription	NHLF	lung
16	chr19:18544400-18547800	Weak transcription	Brain Angular Gyrus	brain
17	chr19:18544400-18548600	Weak transcription	Brain Substantia Nigra	brain
18	chr19:18544800-18547400	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr19:18544800-18547400	Genic enhancers	Placenta	Placenta
20	chr19:18544800-18547400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:18545000-18547600	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr19:18545000-18547600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:18545000-18547800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:18545200-18547400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:18545200-18547400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:18545200-18547400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:18545200-18547400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:18545200-18547400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:18545200-18547400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:18545200-18547400	Weak transcription	Colonic Mucosa	Colon
31	chr19:18545200-18547400	Genic enhancers	Fetal Muscle Leg	muscle
32	chr19:18545200-18547400	Weak transcription	Right Atrium	heart
33	chr19:18545200-18547600	Weak transcription	Left Ventricle	heart
34	chr19:18545200-18547600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:18545200-18547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:18545200-18547800	Weak transcription	Brain Anterior Caudate	brain
37	chr19:18545200-18547800	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:18545200-18547800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr19:18545200-18548400	Weak transcription	NHEK	skin
40	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
41	chr19:18545400-18547400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:18545400-18547400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr19:18545400-18547400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:18545400-18547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:18545400-18547400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:18545400-18547400	Strong transcription	A549	lung
47	chr19:18545400-18547600	Genic enhancers	Spleen	Spleen
48	chr19:18545400-18547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:18545600-18547400	Strong transcription	Ovary	ovary
50	chr19:18545800-18547400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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