Variant report

Variant	rs554526119
Chromosome Location	chr19:18527777-18527778
allele	A/C
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	chr19:18527098-18529165	MCF-7	breast:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
2	POLR2A	chr19:18527106-18528760	Hela-S3	cervix:	n/a	n/a
3	ZNF143	chr19:18527701-18527957	GM12878	blood:	n/a	n/a
4	UBTF	chr19:18527657-18528662	K562	blood:	n/a	n/a
5	POLR2A	chr19:18527049-18529017	K562	blood:	n/a	n/a
6	YY1	chr19:18527607-18528090	K562	blood:	n/a	n/a
7	POLR2A	chr19:18527573-18527871	A549	lung:	n/a	n/a
8	EP300	chr19:18527618-18528178	A549	lung:	n/a	chr19:18527976-18527989 chr19:18527817-18527833 chr19:18527702-18527718
9	CREB1	chr19:18526983-18528154	H1-hESC	embryonic stem cell:	n/a	n/a
10	HMGN3	chr19:18527316-18528048	K562	blood:	n/a	n/a
11	SIN3A	chr19:18527700-18528230	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:18527623-18528179	ProgFib	skin:	n/a	n/a
13	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
14	ZBTB7A	chr19:18527543-18528967	K562	blood:	n/a	chr19:18528162-18528171 chr19:18528520-18528527
15	POLR2A	chr19:18527095-18528938	K562	blood:	n/a	n/a
16	MAX	chr19:18526925-18531451	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
17	POLR2A	chr19:18527025-18528787	HCT-116	colon:	n/a	n/a
18	MAX	chr19:18526998-18529277	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
19	POLR2A	chr19:18527622-18528480	MCF-7	breast:	n/a	n/a
20	POLR2A	chr19:18527064-18528665	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr19:18527637-18527787	HepG2	liver:	n/a	n/a
22	YY1	chr19:18527146-18528026	K562	blood:	n/a	n/a
23	POLR2A	chr19:18526995-18528898	HUVEC	blood vessel:	n/a	n/a
24	MAZ	chr19:18527615-18528793	HepG2	liver:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
25	POLR2A	chr19:18527518-18528728	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr19:18527532-18528740	U87	brain:	n/a	n/a
27	ZBTB7A	chr19:18527576-18528943	ECC-1	luminal epithelium:	n/a	chr19:18528162-18528171 chr19:18528520-18528527
28	ARID3A	chr19:18527122-18528092	K562	blood:	n/a	n/a
29	EGR1	chr19:18527244-18529118	K562	blood:	n/a	chr19:18528591-18528601 chr19:18528838-18528852 chr19:18528842-18528852 chr19:18528990-18529003 chr19:18528537-18528546 chr19:18528842-18528851 chr19:18528993-18529006 chr19:18528840-18528854 chr19:18527657-18527670 chr19:18528989-18528999 chr19:18528498-18528512 chr19:18528586-18528599 chr19:18528688-18528698 chr19:18528842-18528852 chr19:18528686-18528696 chr19:18528683-18528696
30	SIN3A	chr19:18527191-18528608	H1-hESC	embryonic stem cell:	n/a	chr19:18528334-18528347
31	MYC	chr19:18527031-18531008	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
32	POLR2A	chr19:18527226-18528921	U87	brain:	n/a	n/a
33	GTF2F1	chr19:18527142-18528469	K562	blood:	n/a	n/a
34	HA-E2F1	chr19:18527487-18528226	MCF-7	breast:	n/a	chr19:18527812-18527824 chr19:18527824-18527833 chr19:18527812-18527823
35	SMARCC1	chr19:18527164-18528528	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr19:18526951-18529116	K562	blood:	n/a	n/a
37	EBF1	chr19:18527599-18528105	GM12878	blood:	n/a	chr19:18527945-18527956
38	MYC	chr19:18527071-18528215	K562	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
39	CTBP2	chr19:18527646-18528535	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr19:18527596-18527862	A549	lung:	n/a	n/a
41	POLR2A	chr19:18527066-18529321	HL-60	blood:	n/a	n/a
42	POLR2A	chr19:18527337-18528582	Gliobla	brain:	n/a	n/a
43	POLR2A	chr19:18527039-18528371	K562	blood:	n/a	n/a
44	CHD2	chr19:18527176-18528519	H1-hESC	embryonic stem cell:	n/a	n/a
45	RCOR1	chr19:18527107-18528681	K562	blood:	n/a	n/a
46	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
47	MYC	chr19:18527715-18528177	HUVEC	blood vessel:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
48	POLR2A	chr19:18527484-18528120	H1-neurons	neurons:	n/a	n/a
49	EP300	chr19:18527133-18528159	K562	blood:	n/a	chr19:18527976-18527989 chr19:18527817-18527833 chr19:18527702-18527718
50	EGR1	chr19:18527189-18528144	K562	blood:	n/a	chr19:18527657-18527670

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
3	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
4	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
5	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
6	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
7	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
8	chr19:18483533..18485446-chr19:18527365..18529374,2	K562	blood:
9	chr19:18421126..18423149-chr19:18527568..18529347,2	MCF-7	breast:
10	chr19:18521178..18523940-chr19:18526171..18529152,3	MCF-7	breast:
11	chr19:18265654..18267596-chr19:18526831..18528675,2	K562	blood:
12	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
13	chr19:18527544..18530023-chr19:18699407..18700970,2	K562	blood:
14	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
15	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
16	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
17	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
18	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
19	chr19:18527420..18529466-chr19:49466752..49468633,2	K562	blood:
20	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
21	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
22	chr1:225117290..225118037-chr19:18526807..18527782,2	Hela-S3	cervix:
23	chr19:18526729..18529360-chr19:19028525..19030689,2	MCF-7	breast:
24	chr12:49760185..49761113-chr19:18527723..18528583,2	Hela-S3	cervix:
25	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
26	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
27	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
28	chr19:18472311..18474156-chr19:18526952..18528977,3	K562	blood:
29	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000105671	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000185842	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000267898	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105650	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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18524800-18527800	Flanking Active TSS	K562	blood
2	chr19:18524800-18528000	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:18525000-18527800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:18525000-18528000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:18525000-18528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr19:18525000-18529600	Enhancers	Liver	Liver
7	chr19:18525000-18529600	Enhancers	Spleen	Spleen
8	chr19:18525200-18528000	Enhancers	Brain Angular Gyrus	brain
9	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr19:18525400-18527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:18525400-18528000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr19:18525400-18528000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:18525400-18529600	Enhancers	Lung	lung
14	chr19:18526200-18528400	Flanking Active TSS	Fetal Lung	lung
15	chr19:18526400-18528000	Enhancers	Pancreas	Pancrea
16	chr19:18526400-18528000	Enhancers	NHLF	lung
17	chr19:18526400-18528800	Active TSS	Ovary	ovary
18	chr19:18526600-18528000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:18526600-18528000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:18526600-18528000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr19:18526600-18528000	Enhancers	HSMM	muscle
22	chr19:18526600-18528000	Enhancers	HSMMtube	muscle
23	chr19:18526600-18528000	Enhancers	HUVEC	blood vessel
24	chr19:18526800-18528000	Enhancers	NHDF-Ad	bronchial
25	chr19:18526800-18528200	Bivalent Enhancer	Fetal Thymus	thymus
26	chr19:18527000-18527800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr19:18527200-18527800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:18527200-18527800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:18527200-18527800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr19:18527200-18527800	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr19:18527200-18527800	Flanking Active TSS	Hela-S3	cervix
32	chr19:18527200-18528000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr19:18527200-18528000	Bivalent Enhancer	Fetal Heart	heart
34	chr19:18527200-18528000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr19:18527200-18528200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:18527200-18528400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:18527200-18528400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr19:18527200-18528400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr19:18527200-18528400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr19:18527200-18528600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr19:18527200-18528600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
42	chr19:18527200-18528600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr19:18527200-18528600	Flanking Bivalent TSS/Enh	Dnd41	blood
44	chr19:18527200-18529000	Flanking Active TSS	Osteobl	bone
45	chr19:18527200-18529200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr19:18527200-18530000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:18527200-18530200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:18527400-18527800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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