Variant report

Variant	rs577511423
Chromosome Location	chr19:45311172-45311173
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	CTCF	chr19:45311151-45311601	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
3	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
4	RAD21	chr19:45311095-45311637	A549	lung:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
5	TCF12	chr19:45311029-45312613	ECC-1	luminal epithelium:	n/a	chr19:45311761-45311769
6	MYBL2	chr19:45310990-45311616	HepG2	liver:	n/a	n/a
7	MAZ	chr19:45311056-45313023	IMR90	lung:	n/a	chr19:45311331-45311341
8	SMC3	chr19:45310944-45312433	SK-N-SH	brain:	n/a	chr19:45311372-45311386
9	SIN3AK20	chr19:45311152-45311847	A549	lung:	n/a	n/a
10	CTCF	chr19:45311136-45311535	ECC-1	luminal epithelium:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
11	RAD21	chr19:45311166-45311546	Hela-S3	cervix:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
12	SIN3AK20	chr19:45311099-45312581	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:45311080-45311648	MCF-7	breast:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
14	ESR1	chr19:45311046-45311808	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr19:45311046-45311684	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
16	RAD21	chr19:45311119-45311666	MCF-7	breast:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
17	ZBTB7A	chr19:45311017-45313039	ECC-1	luminal epithelium:	n/a	chr19:45311326-45311337
18	MAX	chr19:45311076-45312700	A549	lung:	n/a	chr19:45311331-45311341
19	EP300	chr19:45310984-45312779	ECC-1	luminal epithelium:	n/a	chr19:45312367-45312376
20	RAD21	chr19:45311164-45311655	H1-hESC	embryonic stem cell:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
21	NR2F2	chr19:45311119-45312336	MCF-7	breast:	n/a	n/a
22	RAD21	chr19:45311114-45311597	HepG2	liver:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
23	RAD21	chr19:45311147-45311627	MCF-7	breast:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
24	CEBPD	chr19:45311160-45311701	HepG2	liver:	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	MYBL2	chr19:45311048-45311709	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:45311062-45312807	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF384	chr19:45311043-45311504	K562	blood:	n/a	n/a
30	MAX	chr19:45311159-45312450	ECC-1	luminal epithelium:	n/a	chr19:45311331-45311341
31	BCL3	chr19:45311038-45312314	A549	lung:	n/a	chr19:45312244-45312257 chr19:45311679-45311692
32	POLR2A	chr19:45311112-45313551	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr19:45311158-45311609	SK-N-SH_RA	brain:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
34	TCF12	chr19:45310159-45312773	A549	lung:	n/a	chr19:45310284-45310291 chr19:45311761-45311769
35	RAD21	chr19:45311025-45311798	ECC-1	luminal epithelium:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
36	RAD21	chr19:45310993-45311782	A549	lung:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
37	RAD21	chr19:45311074-45311725	SK-N-SH	brain:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
38	CTCF	chr19:45311005-45311691	SK-N-SH	brain:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
39	CTCF	chr19:45311097-45311591	HepG2	liver:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
40	MAX	chr19:45311135-45312466	A549	lung:	n/a	chr19:45311331-45311341
41	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
42	CTCF	chr19:45311168-45311626	H1-hESC	embryonic stem cell:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
43	ZBTB7A	chr19:45311127-45311589	K562	blood:	n/a	chr19:45311326-45311337
44	ZBTB7A	chr19:45311027-45312906	ECC-1	luminal epithelium:	n/a	chr19:45311326-45311337
45	RAD21	chr19:45311063-45311677	HepG2	liver:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
46	MAX	chr19:45311159-45311830	H1-hESC	embryonic stem cell:	n/a	chr19:45311331-45311341
47	CTCF	chr19:45311147-45311536	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
48	RAD21	chr19:45311095-45311692	ECC-1	luminal epithelium:	n/a	chr19:45311368-45311387 chr19:45311378-45311385
49	CTCF	chr19:45311040-45311190	AoAF	blood vessel:	n/a	n/a
50	EGR1	chr19:45311159-45311511	K562	blood:	n/a	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	chr19:45287462..45288194-chr19:45311126..45311751,2	MCF-7	breast:
4	chr19:45227043..45229115-chr19:45309849..45311993,3	MCF-7	breast:
5	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
6	chr19:45256385..45258826-chr19:45310390..45312154,2	MCF-7	breast:
7	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:
8	chr19:45309744..45311644-chr19:45324913..45327057,2	MCF-7	breast:
9	chr19:45309587..45312322-chr19:45456957..45459370,2	MCF-7	breast:
10	chr19:45147379..45150123-chr19:45308817..45312008,3	MCF-7	breast:
11	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
12	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:
13	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
14	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
15	chr19:45311083..45313001-chr19:45347399..45349440,2	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
4	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
6	chr19:45307400-45311200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:45307600-45311200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:45307600-45311200	Weak transcription	Spleen	Spleen
9	chr19:45307600-45311400	Weak transcription	Lung	lung
10	chr19:45307800-45311400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:45309400-45311200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:45309400-45311800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:45309600-45311200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr19:45309600-45311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr19:45309600-45311800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:45309600-45311800	Enhancers	Placenta	Placenta
17	chr19:45309600-45311800	Enhancers	HMEC	breast
18	chr19:45309600-45311800	Enhancers	NHEK	skin
19	chr19:45309800-45311200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr19:45309800-45311400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr19:45309800-45311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:45309800-45311400	Enhancers	Fetal Heart	heart
23	chr19:45309800-45312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:45310000-45311200	Weak transcription	NHLF	lung
25	chr19:45310000-45311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr19:45310200-45311400	Enhancers	Liver	Liver
27	chr19:45310200-45311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:45310200-45311800	Enhancers	Fetal Intestine Large	intestine
29	chr19:45310200-45311800	Enhancers	Fetal Intestine Small	intestine
30	chr19:45310200-45311800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr19:45310200-45312000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:45310200-45312400	Enhancers	Gastric	stomach
33	chr19:45310400-45311400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:45310400-45311600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:45310400-45311600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:45310400-45311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:45310400-45311800	Enhancers	Fetal Muscle Trunk	muscle
38	chr19:45310400-45311800	Enhancers	Pancreas	Pancrea
39	chr19:45310400-45311800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:45310400-45312000	Enhancers	Stomach Mucosa	stomach
41	chr19:45310400-45312200	Flanking Active TSS	A549	lung
42	chr19:45310400-45312400	Enhancers	Esophagus	oesophagus
43	chr19:45310600-45311200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr19:45310600-45311200	Enhancers	Stomach Smooth Muscle	stomach
45	chr19:45310600-45311200	Enhancers	Hela-S3	cervix
46	chr19:45310600-45311400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:45310600-45311400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr19:45310600-45311600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr19:45310600-45311800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:45310600-45311800	Enhancers	Colonic Mucosa	Colon

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