Variant report

Variant	rs571051476
Chromosome Location	chr19:52192266-52192267
allele	A/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	POLR2A	chr19:52192017-52192475	HepG2	liver:	n/a	n/a
2	CEBPD	chr19:52192241-52192618	HepG2	liver:	n/a	n/a
3	CTCF	chr19:52192240-52192390	AG04450	lung:	n/a	chr19:52192372-52192385
4	REST	chr19:52191919-52192466	A549	lung:	n/a	n/a
5	MAX	chr19:52191992-52192642	MCF-7	breast:	n/a	chr19:52192371-52192381 chr19:52192441-52192451 chr19:52192611-52192621
6	POLR2A	chr19:52190937-52192524	HUVEC	blood vessel:	n/a	n/a
7	REST	chr19:52190820-52192503	A549	lung:	n/a	chr19:52192489-52192502 chr19:52192486-52192499 chr19:52192486-52192499 chr19:52192482-52192502
8	POLR2A	chr19:52190786-52194855	IMR90	lung:	n/a	n/a
9	POLR2A	chr19:52192008-52192897	HUVEC	blood vessel:	n/a	n/a
10	SP1	chr19:52190731-52192818	HCT-116	colon:	n/a	chr19:52191803-52191812 chr19:52192291-52192302 chr19:52192255-52192266 chr19:52191799-52191813 chr19:52192445-52192459 chr19:52191803-52191813 chr19:52192317-52192328
11	CTCF	chr19:52192240-52192390	HEK293	kidney:	n/a	chr19:52192372-52192385
12	TAF1	chr19:52191155-52192632	H1-neurons	neurons:	n/a	n/a
13	USF1	chr19:52191967-52192531	A549	lung:	n/a	n/a
14	POLR2A	chr19:52191975-52192919	A549	lung:	n/a	n/a
15	MYC	chr19:52192172-52192283	MCF-7	breast:	n/a	n/a
16	YY1	chr19:52191883-52192485	H1-hESC	embryonic stem cell:	n/a	chr19:52192365-52192379 chr19:52192368-52192382 chr19:52192370-52192379
17	POLR2A	chr19:52191161-52194568	HUVEC	blood vessel:	n/a	n/a
18	TCF12	chr19:52191961-52192379	A549	lung:	n/a	n/a
19	ZBTB7A	chr19:52192199-52192932	K562	blood:	n/a	n/a
20	MAX	chr19:52190747-52194793	A549	lung:	n/a	chr19:52192371-52192381 chr19:52193788-52193797 chr19:52194166-52194176 chr19:52193267-52193277 chr19:52192441-52192451 chr19:52194223-52194233 chr19:52192611-52192621
21	POLR2A	chr19:52191999-52192522	A549	lung:	n/a	n/a
22	NFIC	chr19:52192001-52192811	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr19:52190899-52192930	U87	brain:	n/a	n/a
24	CTCF	chr19:52192226-52192312	MCF-7	breast:	n/a	n/a
25	MAZ	chr19:52190733-52195005	IMR90	lung:	n/a	chr19:52192371-52192381 chr19:52193788-52193797 chr19:52194166-52194176 chr19:52193267-52193277 chr19:52192441-52192451 chr19:52194223-52194233 chr19:52192611-52192621
26	FOXP2	chr19:52192152-52192825	PFSK-1	brain:	n/a	n/a
27	SP1	chr19:52191952-52192507	H1-hESC	embryonic stem cell:	n/a	chr19:52192291-52192302 chr19:52192255-52192266 chr19:52192445-52192459 chr19:52192317-52192328
28	POLR2A	chr19:52190880-52195017	PFSK-1	brain:	n/a	n/a
29	BCL3	chr19:52191885-52194262	A549	lung:	n/a	chr19:52193326-52193335 chr19:52194168-52194181 chr19:52192591-52192604 chr19:52192366-52192379 chr19:52194169-52194178 chr19:52193878-52193887 chr19:52192370-52192383 chr19:52193169-52193182 chr19:52193321-52193334
30	POLR2A	chr19:52190893-52192936	U87	brain:	n/a	n/a
31	CTCF	chr19:52192126-52192303	Fibrobl	skin:	n/a	n/a
32	JUND	chr19:52192072-52192776	K562	blood:	n/a	n/a
33	UBTF	chr19:52191202-52193378	K562	blood:	n/a	n/a
34	MAFK	chr19:52192089-52192289	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr19:52190804-52195103	SK-N-SH	brain:	n/a	chr19:52193788-52193803
36	POLR2A	chr19:52192150-52192917	A549	lung:	n/a	n/a
37	KAP1	chr19:52191952-52192410	U2OS	brain:	n/a	n/a
38	EGR1	chr19:52192011-52192500	H1-hESC	embryonic stem cell:	n/a	chr19:52192372-52192382 chr19:52192426-52192436 chr19:52192369-52192379
39	TBL1XR1	chr19:52192208-52192442	K562	blood:	n/a	n/a
40	MYC	chr19:52192104-52192427	MCF-7	breast:	n/a	chr19:52192371-52192381
41	POLR2A	chr19:52190868-52194746	PFSK-1	brain:	n/a	n/a
42	UBTF	chr19:52191922-52192836	K562	blood:	n/a	n/a
43	REST	chr19:52190718-52193267	H1-neurons	neurons:	n/a	chr19:52192489-52192502 chr19:52192486-52192499 chr19:52192486-52192499 chr19:52192482-52192502
44	TAF1	chr19:52192011-52192857	ECC-1	luminal epithelium:	n/a	n/a
45	HDAC2	chr19:52192009-52192292	K562	blood:	n/a	n/a
46	REST	chr19:52192123-52192506	K562	blood:	n/a	chr19:52192489-52192502 chr19:52192486-52192499 chr19:52192486-52192499 chr19:52192482-52192502
47	TBL1XR1	chr19:52192122-52192321	K562	blood:	n/a	n/a
48	YY1	chr19:52192016-52192692	ECC-1	luminal epithelium:	n/a	chr19:52192503-52192514 chr19:52192365-52192379 chr19:52192368-52192382 chr19:52192590-52192604 chr19:52192370-52192379
49	POLR2A	chr19:52192055-52192352	A549	lung:	n/a	n/a
50	POLR2A	chr19:52192103-52192432	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52191310..52193737-chr19:54959271..54961784,2	MCF-7	breast:
2	chr19:52191235..52193231-chr19:52302966..52304607,2	MCF-7	breast:
3	chr19:52190822..52192582-chr19:52204625..52207087,2	K562	blood:
4	chr19:52191055..52194888-chr19:52301421..52305190,4	MCF-7	breast:
5	chr19:51979609..51981467-chr19:52190733..52192569,2	K562	blood:
6	chr19:52189832..52192322-chr19:52204625..52207481,2	K562	blood:
7	chr19:52186234..52189243-chr19:52190984..52192960,3	K562	blood:
8	chr19:52166500..52170915-chr19:52189684..52193816,5	MCF-7	breast:
9	chr19:52190894..52195343-chr19:52204099..52207909,11	MCF-7	breast:
10	chr17:48943612..48944270-chr19:52191708..52192701,3	HCT-116	colon:
11	chr19:52191774..52192450-chr3:55003928..55004428,2	HCT-116	colon:
12	chr19:52171940..52173838-chr19:52191282..52193363,2	MCF-7	breast:
13	chr19:52192175..52194202-chr19:52301235..52302921,2	MCF-7	breast:
14	chr19:52189901..52192880-chr19:52273718..52275861,2	MCF-7	breast:
15	chr19:52191148..52193451-chr19:52208033..52210074,2	MCF-7	breast:
16	chr19:52191800..52194773-chr19:52195976..52198030,3	K562	blood:
17	chr19:52192066..52193660-chr19:52283404..52285811,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAS1-1	chr19:52190491-52192335	NONHSAT067461

Variant related genes	Relation type
SPACA6P	TF binding region
ENSG00000273318	TF binding region
MIRLET7E	TF binding region
MIR125A	TF binding region
MIR99B	TF binding region
ENSG00000208008	Chromatin interaction
ENSG00000238486	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000198972	Chromatin interaction
ENSG00000226696	Chromatin interaction
ENSG00000167615	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000213822	Chromatin interaction
ENSG00000273318	Chromatin interaction
ENSG00000182310	Chromatin interaction
ENSG00000269959	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases
15	esv3371725	chr19:52192115-52194388	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52190400-52194600	Active TSS	Fetal Brain Female	brain
2	chr19:52190800-52194400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:52190800-52194400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:52190800-52194800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:52190800-52194800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:52190800-52195000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:52190800-52195000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:52190800-52195200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:52191000-52193400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr19:52191000-52194000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:52191000-52194600	Active TSS	Psoas Muscle	Psoas
12	chr19:52191000-52194600	Active TSS	A549	lung
13	chr19:52191000-52195200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:52191000-52195400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:52191000-52195800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr19:52191200-52192400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:52191200-52193600	Active TSS	Hela-S3	cervix
18	chr19:52191200-52194800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:52191200-52194800	Active TSS	Left Ventricle	heart
20	chr19:52191200-52195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr19:52191200-52195000	Active TSS	Ovary	ovary
22	chr19:52191200-52196200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:52191200-52196200	Active TSS	Fetal Kidney	kidney
24	chr19:52191400-52192400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr19:52191400-52192400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:52191400-52192400	Bivalent/Poised TSS	HepG2	liver
27	chr19:52191400-52193400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr19:52191400-52194400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:52191400-52194600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:52191400-52194600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:52191400-52194600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:52191400-52194800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:52191400-52194800	Active TSS	Aorta	Aorta
34	chr19:52191400-52195000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr19:52191400-52195200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr19:52191400-52195400	Active TSS	HSMMtube	muscle
37	chr19:52191600-52192400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr19:52191600-52193600	Active TSS	Brain Germinal Matrix	brain
39	chr19:52191600-52194200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:52191600-52194400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr19:52191600-52194400	Active TSS	Brain Substantia Nigra	brain
42	chr19:52191600-52194400	Active TSS	NHEK	skin
43	chr19:52191600-52194600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:52191600-52194600	Active TSS	Brain Angular Gyrus	brain
45	chr19:52191600-52194600	Active TSS	Brain Cingulate Gyrus	brain
46	chr19:52191600-52194800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr19:52191600-52194800	Active TSS	Esophagus	oesophagus
48	chr19:52191600-52194800	Active TSS	HSMM	muscle
49	chr19:52191600-52195000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr19:52191600-52195200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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