Variant report

Variant	rs371350033
Chromosome Location	chr19:45311814-45311815
allele	C/G
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	NR2F2	chr19:45311029-45312611	MCF-7	breast:	n/a	n/a
2	SP1	chr19:45311002-45312446	A549	lung:	n/a	chr19:45311679-45311688 chr19:45311467-45311481 chr19:45311678-45311692 chr19:45311331-45311345 chr19:45311466-45311478 chr19:45311678-45311688 chr19:45311466-45311478
3	TCF12	chr19:45311029-45312613	ECC-1	luminal epithelium:	n/a	chr19:45311761-45311769
4	MAZ	chr19:45311056-45313023	IMR90	lung:	n/a	chr19:45311331-45311341
5	SMC3	chr19:45310944-45312433	SK-N-SH	brain:	n/a	chr19:45311372-45311386
6	SIN3AK20	chr19:45311152-45311847	A549	lung:	n/a	n/a
7	CEBPD	chr19:45311800-45312626	HepG2	liver:	n/a	n/a
8	YY1	chr19:45311306-45311912	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr19:45311191-45312492	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr19:45311099-45312581	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:45311270-45312616	ECC-1	luminal epithelium:	n/a	n/a
12	ZBTB7A	chr19:45311017-45313039	ECC-1	luminal epithelium:	n/a	chr19:45311326-45311337
13	REST	chr19:45311728-45312192	A549	lung:	n/a	chr19:45312159-45312168
14	TBP	chr19:45311259-45312590	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr19:45311076-45312700	A549	lung:	n/a	chr19:45311331-45311341
16	EP300	chr19:45310984-45312779	ECC-1	luminal epithelium:	n/a	chr19:45312367-45312376
17	NR2F2	chr19:45311119-45312336	MCF-7	breast:	n/a	n/a
18	ATF2	chr19:45311188-45311983	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr19:45311780-45312030	GM12874	blood:	n/a	n/a
20	YY1	chr19:45311211-45312129	H1-hESC	embryonic stem cell:	n/a	chr19:45312001-45312015
21	GATA3	chr19:45311385-45311877	T-47D	breast:	n/a	n/a
22	JUND	chr19:45311229-45311843	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFIC	chr19:45311253-45312621	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr19:45311808-45312259	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr19:45310852-45312815	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
26	SP1	chr19:45311135-45311922	H1-hESC	embryonic stem cell:	n/a	chr19:45311679-45311688 chr19:45311467-45311481 chr19:45311678-45311692 chr19:45311331-45311345 chr19:45311466-45311478 chr19:45311678-45311688 chr19:45311466-45311478
27	POLR2A	chr19:45311331-45312155	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr19:45311180-45311829	MCF-7	breast:	n/a	chr19:45311331-45311341
29	POLR2A	chr19:45311188-45312660	HCT-116	colon:	n/a	n/a
30	MYBL2	chr19:45311746-45312168	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:45311062-45312807	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr19:45311159-45312450	ECC-1	luminal epithelium:	n/a	chr19:45311331-45311341
33	BCL3	chr19:45311038-45312314	A549	lung:	n/a	chr19:45312244-45312257 chr19:45311679-45311692
34	MAZ	chr19:45311215-45312404	HepG2	liver:	n/a	chr19:45311331-45311341
35	TEAD4	chr19:45311228-45311814	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:45311344-45311859	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:45311184-45312264	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr19:45311198-45311818	MCF-7	breast:	n/a	chr19:45311331-45311341
39	POLR2A	chr19:45311112-45313551	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr19:45310159-45312773	A549	lung:	n/a	chr19:45310284-45310291 chr19:45311761-45311769
41	TEAD4	chr19:45311290-45311866	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr19:45311181-45312934	ECC-1	luminal epithelium:	n/a	chr19:45311761-45311769
43	POLR2A	chr19:45311233-45312555	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr19:45311135-45312466	A549	lung:	n/a	chr19:45311331-45311341
45	SP1	chr19:45311102-45312002	H1-hESC	embryonic stem cell:	n/a	chr19:45311679-45311688 chr19:45311467-45311481 chr19:45311678-45311692 chr19:45311331-45311345 chr19:45311466-45311478 chr19:45311678-45311688 chr19:45311466-45311478
46	CHD2	chr19:45311664-45311841	HepG2	liver:	n/a	n/a
47	CTCF	chr19:45311680-45311830	HRE	kidney:	n/a	n/a
48	SP4	chr19:45311187-45311928	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZBTB7A	chr19:45311027-45312906	ECC-1	luminal epithelium:	n/a	chr19:45311326-45311337
50	SIN3A	chr19:45311214-45312609	H1-hESC	embryonic stem cell:	n/a	chr19:45312137-45312146 chr19:45311260-45311269 chr19:45311842-45311853

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45311781-45311831	NB4	blood:	n/a
2	chr19:45311781-45311831	Jurkat	blood:	n/a
3	chr19:45311781-45311831	U87	brain:	n/a
4	chr19:45311781-45311831	AG04449	skin:	fetal
5	chr19:45311781-45311831	NT2-D1	testis:	n/a
6	chr19:45311781-45311831	NH-A	brain:	n/a
7	chr19:45311781-45311831	BE2_C	brain:	n/a
8	chr19:45311781-45311831	GM06990	blood:	n/a
9	chr19:45311781-45311831	HEK293	kidney:	embryo
10	chr19:45311781-45311831	HUVEC	blood vessel:	n/a
11	chr19:45311781-45311831	H1-hESC	embryonic stem cell:	embryo
12	chr19:45311781-45311831	GM12878	blood:	n/a
13	chr19:45311781-45311831	HepG2	liver:	n/a
14	chr19:45311781-45311831	GM12891	blood:	n/a
15	chr19:45311781-45311831	Hepatocyte	liver:	n/a
16	chr19:45311781-45311831	HIPEpiC	eye:	n/a
17	chr19:45311781-45311831	AG04450	lung:	fetal
18	chr19:45311781-45311831	ovcar-3	ovarian:	n/a
19	chr19:45311781-45311831	RPTEC	kidney:	n/a
20	chr19:45311781-45311831	IMR90	lung:	fetal
21	chr19:45311781-45311831	HCM	heart:	n/a
22	chr19:45311781-45311831	PANC-1	pancreas:	n/a
23	chr19:45311781-45311831	AG09309	skin:	n/a
24	chr19:45311781-45311831	MCF10A-Er-Src	breast:	n/a
25	chr19:45311781-45311831	HRPEpiC	eye:	n/a
26	chr19:45311781-45311831	Caco-2	colon:	n/a
27	chr19:45311781-45311831	HL-60	blood:	n/a
28	chr19:45311781-45311831	SK-N-SH_RA	brain:	n/a
29	chr19:45311781-45311831	BJ	skin:	n/a
30	chr19:45311781-45311831	A549	lung:	n/a
31	chr19:45311781-45311831	K562	blood:	n/a
32	chr19:45311781-45311831	LNCaP	prostate:	n/a
33	chr19:45311781-45311831	HEEpiC	esophagus:	n/a
34	chr19:45311781-45311831	SAEC	small airway:	n/a
35	chr19:45311781-45311831	HCF	heart:	n/a
36	chr19:45311781-45311831	SK-N-MC	brain:	n/a
37	chr19:45311781-45311831	CMK	blood:	n/a
38	chr19:45311781-45311831	SK-N-SH	brain:	n/a
39	chr19:45311781-45311831	T-47D	breast:	n/a
40	chr19:45311781-45311831	GM12892	blood:	n/a
41	chr19:45311781-45311831	Hela-S3	cervix:	n/a
42	chr19:45311781-45311831	HNPCEpiC	eye:	n/a
43	chr19:45311781-45311831	HAEpiC	amniotic membrane:	n/a
44	chr19:45311781-45311831	HMEC	breast:	n/a
45	chr19:45311781-45311831	SKMC	muscle:	n/a
46	chr19:45311781-45311831	AG09319	gingival:	n/a
47	chr19:45311781-45311831	NHBE	bronchial:	n/a
48	chr19:45311781-45311831	AoSMC	blood vessel:	n/a
49	chr19:45311781-45311831	NHDF-neo	bronchial:	n/a
50	chr19:45311781-45311831	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45258326..45260627-chr19:45310152..45311875,2	MCF-7	breast:
2	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
3	chr19:45227043..45229115-chr19:45309849..45311993,3	MCF-7	breast:
4	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
5	chr19:45256385..45258826-chr19:45310390..45312154,2	MCF-7	breast:
6	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:
7	chr19:45309587..45312322-chr19:45456957..45459370,2	MCF-7	breast:
8	chr19:45147379..45150123-chr19:45308817..45312008,3	MCF-7	breast:
9	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
10	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:
11	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
12	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
13	chr19:45311083..45313001-chr19:45347399..45349440,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region
BCAM	CpG island
ENSG00000130202	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000267114	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv579861	chr19:45309972-45314395	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv912123	chr19:45310319-45314395	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv579862	chr19:45310319-45316807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv912124	chr19:45310319-45318564	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv912125	chr19:45310319-45321841	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv579863	chr19:45310319-45322451	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv912126	chr19:45311523-45317089	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45309800-45312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:45310200-45312000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:45310200-45312400	Enhancers	Gastric	stomach
4	chr19:45310400-45312000	Enhancers	Stomach Mucosa	stomach
5	chr19:45310400-45312200	Flanking Active TSS	A549	lung
6	chr19:45310400-45312400	Enhancers	Esophagus	oesophagus
7	chr19:45311000-45312000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr19:45311000-45312000	Enhancers	Brain Angular Gyrus	brain
9	chr19:45311200-45312000	Enhancers	Spleen	Spleen
10	chr19:45311200-45312000	Flanking Active TSS	HepG2	liver
11	chr19:45311200-45312200	Flanking Active TSS	Fetal Lung	lung
12	chr19:45311200-45312400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:45311200-45312400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr19:45311200-45313000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr19:45311400-45312000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr19:45311400-45312000	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:45311400-45312000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr19:45311400-45312000	Flanking Active TSS	Fetal Heart	heart
19	chr19:45311400-45312000	Enhancers	Lung	lung
20	chr19:45311400-45312200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr19:45311400-45312200	Flanking Active TSS	Liver	Liver
22	chr19:45311400-45312200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr19:45311400-45312200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:45311400-45312200	Flanking Active TSS	Osteobl	bone
25	chr19:45311400-45312400	Enhancers	NHDF-Ad	bronchial
26	chr19:45311400-45312600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr19:45311400-45312600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:45311400-45312800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:45311400-45312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:45311400-45313000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:45311400-45313600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:45311400-45314200	Active TSS	Fetal Kidney	kidney
33	chr19:45311600-45312000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:45311600-45312000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:45311600-45312000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:45311600-45312000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr19:45311600-45312000	Bivalent Enhancer	Fetal Brain Male	brain
38	chr19:45311600-45312200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr19:45311600-45312200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:45311600-45312200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr19:45311600-45312400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr19:45311600-45312400	Enhancers	Small Intestine	intestine
43	chr19:45311600-45312600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:45311600-45312800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr19:45311600-45313000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:45311800-45312000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:45311800-45312000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:45311800-45312000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr19:45311800-45312000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:45311800-45312000	Flanking Active TSS	Brain Cingulate Gyrus	brain

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