Variant report

Variant	rs200953422
Chromosome Location	chr19:52097433-52097434
allele	C/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	MAX	chr19:52097011-52098187	A549	lung:	n/a	n/a
2	MAX	chr19:52097398-52097906	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr19:52097152-52097907	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr19:52097212-52097989	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:52097371-52098150	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:52097213-52098016	GM15510	blood:	n/a	n/a
7	SP1	chr19:52097432-52097984	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:52096649-52098159	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:52097124-52098203	MCF-7	breast:	n/a	n/a
10	BCL3	chr19:52097374-52098262	A549	lung:	n/a	chr19:52097706-52097719 chr19:52097907-52097920
11	POLR2A	chr19:52097317-52097810	ECC-1	luminal epithelium:	n/a	n/a
12	ZMIZ1	chr19:52097416-52097992	K562	blood:	n/a	n/a
13	YY1	chr19:52097363-52098111	ECC-1	luminal epithelium:	n/a	chr19:52098008-52098016 chr19:52097707-52097718
14	NRF1	chr19:52096917-52098423	SK-N-SH	brain:	n/a	chr19:52097639-52097648 chr19:52097639-52097653 chr19:52097639-52097650 chr19:52097636-52097650 chr19:52097644-52097655
15	HCFC1	chr19:52097053-52098362	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr19:52095177-52098004	U87	brain:	n/a	n/a
17	POLR2A	chr19:52097352-52097933	U87	brain:	n/a	n/a
18	PML	chr19:52097214-52098091	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:52097285-52097857	PFSK-1	brain:	n/a	n/a
20	ETS1	chr19:52097399-52098135	A549	lung:	n/a	chr19:52097829-52097842 chr19:52097729-52097742 chr19:52097796-52097809
21	ZC3H11A	chr19:52097325-52098160	K562	blood:	n/a	n/a
22	POLR2A	chr19:52095947-52098295	K562	blood:	n/a	n/a
23	MAX	chr19:52097217-52098234	K562	blood:	n/a	n/a
24	ZNF263	chr19:52096973-52098574	HEK293-T-REx	kidney:	n/a	n/a
25	BCLAF1	chr19:52097426-52097966	GM12878	blood:	n/a	chr19:52097706-52097719 chr19:52097907-52097920
26	ETS1	chr19:52097431-52097993	GM12878	blood:	n/a	chr19:52097829-52097842 chr19:52097729-52097742 chr19:52097796-52097809
27	CHD2	chr19:52097118-52098214	K562	blood:	n/a	n/a
28	POLR2A	chr19:52097262-52098096	Raji	blood:	n/a	n/a
29	GABPA	chr19:52097407-52098019	A549	lung:	n/a	chr19:52097639-52097648 chr19:52097639-52097653 chr19:52097639-52097650 chr19:52097636-52097650
30	YY1	chr19:52097302-52098207	SK-N-SH_RA	brain:	n/a	chr19:52098008-52098016 chr19:52097707-52097718
31	ZNF143	chr19:52097417-52098249	K562	blood:	n/a	chr19:52097822-52097840 chr19:52097729-52097738 chr19:52097722-52097740 chr19:52097831-52097840 chr19:52097789-52097807 chr19:52097796-52097805 chr19:52097829-52097838
32	SP4	chr19:52097422-52097925	H1-hESC	embryonic stem cell:	n/a	n/a
33	CUX1	chr19:52097422-52097786	K562	blood:	n/a	n/a
34	POLR2A	chr19:52097293-52097554	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr19:52097395-52098029	ECC-1	luminal epithelium:	n/a	n/a
36	STAT5A	chr19:52097297-52098176	GM12878	blood:	n/a	n/a
37	ELF1	chr19:52097205-52098313	GM12878	blood:	n/a	chr19:52097710-52097719
38	GATA2	chr19:52096634-52097472	HUVEC	blood vessel:	n/a	chr19:52096856-52096877 chr19:52096863-52096872 chr19:52097058-52097074 chr19:52096859-52096875 chr19:52096862-52096872 chr19:52097056-52097077 chr19:52096863-52096870 chr19:52096833-52096840 chr19:52097060-52097074
39	TCF12	chr19:52097149-52098234	A549	lung:	n/a	chr19:52097604-52097611 chr19:52097787-52097797
40	BHLHE40	chr19:52096954-52097910	K562	blood:	n/a	n/a
41	CCNT2	chr19:52097073-52098002	K562	blood:	n/a	n/a
42	MTA3	chr19:52096806-52098235	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:52097028-52098348	H1-neurons	neurons:	n/a	n/a
44	ETS1	chr19:52097213-52098206	A549	lung:	n/a	chr19:52097829-52097842 chr19:52097729-52097742 chr19:52097796-52097809
45	ELF1	chr19:52097272-52098159	GM12878	blood:	n/a	chr19:52097710-52097719
46	MAZ	chr19:52097043-52098242	K562	blood:	n/a	n/a
47	EGR1	chr19:52097354-52097659	K562	blood:	n/a	chr19:52097640-52097649
48	REST	chr19:52097176-52097606	A549	lung:	n/a	n/a
49	POLR2A	chr19:52097207-52097455	MCF-7	breast:	n/a	n/a
50	POLR2A	chr19:52097190-52098033	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52095454..52097791-chr19:52104410..52105932,2	K562	blood:
2	chr19:51869850..51871538-chr19:52096656..52099033,2	K562	blood:
3	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:
4	chr19:51897297..51899400-chr19:52095029..52099296,3	K562	blood:
5	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018755.11.1-1	chr19:52097202-52097633	NR_034159

Variant related genes	Relation type
ENSG00000269388	TF binding region
ENSG00000269403	Chromatin interaction
ENSG00000269388	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000160318	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
10	nsv9740	chr19:52096231-52107021	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52096400-52097600	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr19:52096400-52097600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr19:52096600-52097600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr19:52096600-52098000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:52096600-52098200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:52096600-52098200	Active TSS	Muscle Satellite Cultured Cells	--
7	chr19:52096600-52098200	Active TSS	Fetal Kidney	kidney
8	chr19:52096600-52098400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:52096600-52098400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:52096600-52098400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:52096600-52098400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr19:52096600-52098400	Active TSS	NHDF-Ad	bronchial
13	chr19:52096600-52098600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:52096600-52098600	Active TSS	A549	lung
15	chr19:52096600-52098800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:52096800-52097600	Flanking Active TSS	Liver	Liver
17	chr19:52096800-52097600	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr19:52096800-52097600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr19:52096800-52098000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:52096800-52098000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:52096800-52098000	Active TSS	HMEC	breast
22	chr19:52096800-52098200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr19:52096800-52098200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:52096800-52098200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:52096800-52098400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr19:52096800-52098400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:52096800-52098400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:52096800-52098400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr19:52096800-52098400	Active TSS	Fetal Intestine Large	intestine
30	chr19:52096800-52098400	Active TSS	Rectal Smooth Muscle	rectum
31	chr19:52096800-52098400	Active TSS	HSMMtube	muscle
32	chr19:52096800-52098600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:52097000-52097600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:52097000-52097600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:52097000-52098000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:52097000-52098200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr19:52097000-52098200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:52097000-52098200	Active TSS	Aorta	Aorta
39	chr19:52097000-52098200	Active TSS	Right Ventricle	heart
40	chr19:52097000-52098200	Flanking Active TSS	HUVEC	blood vessel
41	chr19:52097000-52098400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:52097000-52098400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:52097000-52098400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:52097000-52098400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr19:52097000-52098400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr19:52097000-52098400	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr19:52097000-52098400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr19:52097000-52098400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:52097000-52098400	Active TSS	Gastric	stomach
50	chr19:52097000-52098400	Active TSS	Psoas Muscle	Psoas

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