Variant report

Variant	rs62119723
Chromosome Location	chr19:39872795-39872796
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	JUND	chr19:39872508-39872909	K562	blood:	n/a	n/a
2	GABPA	chr19:39872460-39872882	K562	blood:	n/a	n/a
3	CCNT2	chr19:39872500-39872998	K562	blood:	n/a	n/a
4	CUX1	chr19:39872631-39872842	K562	blood:	n/a	n/a
5	BACH1	chr19:39872629-39872838	K562	blood:	n/a	n/a
6	ZNF143	chr19:39872582-39872829	K562	blood:	n/a	n/a
7	MYC	chr19:39872540-39872884	K562	blood:	n/a	n/a
8	GATA2	chr19:39872417-39872949	K562	blood:	n/a	chr19:39872693-39872702 chr19:39872692-39872704 chr19:39872695-39872702 chr19:39872597-39872610 chr19:39872693-39872703
9	EGR1	chr19:39872519-39872812	K562	blood:	n/a	n/a
10	ATF1	chr19:39872524-39872888	K562	blood:	n/a	n/a
11	CEBPD	chr19:39872396-39872967	K562	blood:	n/a	n/a
12	ZNF384	chr19:39872618-39872873	K562	blood:	n/a	n/a
13	TBL1XR1	chr19:39872556-39872882	K562	blood:	n/a	n/a
14	POLR2A	chr19:39850716-39886400	PANC-1	pancreas:	n/a	n/a
15	MAZ	chr19:39872546-39872868	K562	blood:	n/a	n/a
16	SIN3AK20	chr19:39872585-39872923	K562	blood:	n/a	n/a
17	HDAC2	chr19:39872495-39873137	K562	blood:	n/a	chr19:39872694-39872703
18	REST	chr19:39872491-39872851	K562	blood:	n/a	chr19:39872657-39872675
19	EP300	chr19:39872500-39872875	K562	blood:	n/a	chr19:39872672-39872688
20	ZBTB7A	chr19:39872402-39872887	K562	blood:	n/a	n/a
21	CEBPD	chr19:39872460-39872951	K562	blood:	n/a	n/a
22	TEAD4	chr19:39872325-39873098	K562	blood:	n/a	n/a
23	MAFK	chr19:39872568-39873120	K562	blood:	n/a	chr19:39873036-39873047 chr19:39873035-39873049
24	MXI1	chr19:39872592-39872863	K562	blood:	n/a	n/a
25	GATA2	chr19:39872478-39872858	K562	blood:	n/a	chr19:39872693-39872702 chr19:39872692-39872704 chr19:39872695-39872702 chr19:39872597-39872610 chr19:39872693-39872703
26	TRIM28	chr19:39872363-39872957	K562	blood:	n/a	n/a
27	HMGN3	chr19:39872559-39872838	K562	blood:	n/a	chr19:39872694-39872701
28	GATA1	chr19:39872507-39872885	K562	blood:	n/a	chr19:39872693-39872702 chr19:39872692-39872704 chr19:39872695-39872702 chr19:39872597-39872610 chr19:39872693-39872703
29	HDAC2	chr19:39872408-39873021	K562	blood:	n/a	chr19:39872694-39872703
30	EP300	chr19:39872543-39872854	K562	blood:	n/a	chr19:39872672-39872688
31	GATA1	chr19:39872404-39872935	PBDE	blood:	n/a	chr19:39872693-39872702 chr19:39872692-39872704 chr19:39872695-39872702 chr19:39872597-39872610 chr19:39872693-39872703
32	POLR2A	chr19:39872441-39872989	K562	blood:	n/a	n/a
33	POLR2A	chr19:39872468-39873906	K562	blood:	n/a	n/a
34	TEAD4	chr19:39872394-39873032	K562	blood:	n/a	n/a
35	MYC	chr19:39872559-39872875	K562	blood:	n/a	n/a
36	NR2F2	chr19:39872396-39872922	K562	blood:	n/a	n/a
37	MAFF	chr19:39872573-39873125	K562	blood:	n/a	n/a
38	POLR2A	chr19:39872391-39873006	K562	blood:	n/a	n/a
39	SIN3AK20	chr19:39870428-39883708	PANC-1	pancreas:	n/a	n/a
40	ARID3A	chr19:39872616-39872854	K562	blood:	n/a	n/a
41	TBL1XR1	chr19:39872491-39872900	K562	blood:	n/a	n/a
42	MYC	chr19:39872613-39872851	K562	blood:	n/a	n/a
43	TAL1	chr19:39872468-39872992	K562	blood:	n/a	chr19:39872804-39872819 chr19:39872804-39872819
44	POLR2A	chr19:39872772-39872838	HepG2	liver:	n/a	n/a
45	REST	chr19:39872524-39872797	K562	blood:	n/a	chr19:39872657-39872675
46	RCOR1	chr19:39872495-39873108	K562	blood:	n/a	n/a
47	STAT5A	chr19:39872439-39872862	K562	blood:	n/a	n/a
48	ZMIZ1	chr19:39872492-39872840	K562	blood:	n/a	n/a
49	POLR2A	chr19:39872388-39873822	K562	blood:	n/a	n/a
50	GATA1	chr19:39871995-39873205	K562	blood:	n/a	chr19:39872693-39872702 chr19:39872692-39872704 chr19:39873110-39873117 chr19:39872695-39872702 chr19:39872597-39872610 chr19:39872693-39872703

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39826203..39828584-chr19:39871220..39872824,2	K562	blood:
2	chr19:39872596..39873101-chr19:39881272..39881848,2	K562	blood:

Variant related genes	Relation type
SAMD4B	TF binding region
ENSG00000130755	Chromatin interaction
ENSG00000006712	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs40469	0.82[EUR][1000 genomes]
rs45591338	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45613331	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61736260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122891	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
4	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
6	nsv911682	chr19:39847132-39914748	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
7	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39834800-39880000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39835800-39880200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:39835800-39880200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr19:39836200-39880400	Strong transcription	Primary T cells from cord blood	blood
5	chr19:39836600-39880400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr19:39836600-39880400	Strong transcription	Fetal Brain Female	brain
7	chr19:39837400-39880000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:39838000-39880000	Strong transcription	Brain Germinal Matrix	brain
9	chr19:39838600-39880400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:39838800-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:39839200-39879200	Strong transcription	Dnd41	blood
12	chr19:39841600-39880000	Strong transcription	Fetal Intestine Large	intestine
13	chr19:39842000-39880000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:39842200-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:39842200-39880400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:39842400-39880400	Strong transcription	Thymus	Thymus
17	chr19:39842600-39880400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:39848200-39880000	Weak transcription	Fetal Heart	heart
19	chr19:39850400-39881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:39852800-39880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:39854000-39876000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:39856600-39880200	Strong transcription	Fetal Thymus	thymus
23	chr19:39857200-39875600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr19:39857200-39880200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:39857200-39880400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:39857400-39875000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:39857400-39875200	Strong transcription	Primary B cells from cord blood	blood
28	chr19:39858800-39879600	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr19:39859000-39875400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:39859000-39880200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:39860000-39875000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr19:39860000-39880400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:39860800-39875800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:39863600-39873000	Strong transcription	A549	lung
35	chr19:39864000-39880200	Strong transcription	Placenta	Placenta
36	chr19:39864000-39880400	Strong transcription	Fetal Intestine Small	intestine
37	chr19:39864200-39875200	Strong transcription	Brain Angular Gyrus	brain
38	chr19:39864200-39880400	Strong transcription	Fetal Muscle Leg	muscle
39	chr19:39864400-39878000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:39864400-39879400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:39864400-39879800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:39864400-39880000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:39864400-39880000	Strong transcription	Esophagus	oesophagus
44	chr19:39864400-39880000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:39864400-39880200	Strong transcription	Brain Substantia Nigra	brain
46	chr19:39864400-39880200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:39864400-39880200	Strong transcription	Fetal Stomach	stomach
48	chr19:39864400-39880400	Strong transcription	Lung	lung
49	chr19:39864400-39880400	Weak transcription	Right Atrium	heart
50	chr19:39864600-39880400	Strong transcription	Fetal Muscle Trunk	muscle

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