Variant report

Variant	rs150685722
Chromosome Location	chr19:18527550-18527551
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	chr19:18527098-18529165	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	POLR2A	chr19:18527049-18529017	K562	blood:	n/a	n/a
4	CREB1	chr19:18526983-18528154	H1-hESC	embryonic stem cell:	n/a	n/a
5	HMGN3	chr19:18527316-18528048	K562	blood:	n/a	n/a
6	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
7	ZBTB7A	chr19:18527543-18528967	K562	blood:	n/a	chr19:18528162-18528171 chr19:18528520-18528527
8	TAF1	chr19:18527277-18527588	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:18527095-18528938	K562	blood:	n/a	n/a
10	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
11	POLR2A	chr19:18527025-18528787	HCT-116	colon:	n/a	n/a
12	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
13	POLR2A	chr19:18527064-18528665	SK-N-MC	brain:	n/a	n/a
14	YY1	chr19:18527146-18528026	K562	blood:	n/a	n/a
15	POLR2A	chr19:18526995-18528898	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr19:18527063-18527612	K562	blood:	n/a	n/a
17	POLR2A	chr19:18527518-18528728	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr19:18527532-18528740	U87	brain:	n/a	n/a
19	ARID3A	chr19:18527122-18528092	K562	blood:	n/a	n/a
20	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
21	SIN3A	chr19:18527191-18528608	H1-hESC	embryonic stem cell:	n/a	chr19:18528334-18528347
22	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
23	POLR2A	chr19:18527226-18528921	U87	brain:	n/a	n/a
24	GTF2F1	chr19:18527142-18528469	K562	blood:	n/a	n/a
25	HA-E2F1	chr19:18527487-18528226	MCF-7	breast:	n/a	chr19:18527812-18527824 chr19:18527824-18527833 chr19:18527812-18527823
26	RFX5	chr19:18527229-18527564	H1-hESC	embryonic stem cell:	n/a	n/a
27	SMARCC1	chr19:18527164-18528528	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr19:18526951-18529116	K562	blood:	n/a	n/a
29	MYC	chr19:18527071-18528215	K562	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
30	POLR2A	chr19:18527066-18529321	HL-60	blood:	n/a	n/a
31	POLR2A	chr19:18527337-18528582	Gliobla	brain:	n/a	n/a
32	POLR2A	chr19:18527039-18528371	K562	blood:	n/a	n/a
33	CHD2	chr19:18527176-18528519	H1-hESC	embryonic stem cell:	n/a	n/a
34	RCOR1	chr19:18527107-18528681	K562	blood:	n/a	n/a
35	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:18527484-18528120	H1-neurons	neurons:	n/a	n/a
37	EP300	chr19:18527133-18528159	K562	blood:	n/a	chr19:18527976-18527989 chr19:18527817-18527833 chr19:18527702-18527718
38	EGR1	chr19:18527189-18528144	K562	blood:	n/a	chr19:18527657-18527670
39	MAX	chr19:18527096-18528624	Hela-S3	cervix:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
40	ELK1	chr19:18527215-18527850	K562	blood:	n/a	n/a
41	EGR1	chr19:18527476-18527989	GM12878	blood:	n/a	chr19:18527657-18527670
42	CHD2	chr19:18527164-18528669	K562	blood:	n/a	n/a
43	MYC	chr19:18527097-18529134	NB4	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
44	POLR2A	chr19:18527532-18529082	U87	brain:	n/a	n/a
45	MAZ	chr19:18527328-18528692	Hela-S3	cervix:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
46	HEY1	chr19:18527005-18527896	K562	blood:	n/a	n/a
47	TCF12	chr19:18527398-18528742	ECC-1	luminal epithelium:	n/a	n/a
48	MTA3	chr19:18526999-18529265	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:18525346-18530410	K562	blood:	n/a	n/a
50	ELF1	chr19:18527045-18528869	GM12878	blood:	n/a	chr19:18528477-18528489 chr19:18528483-18528495 chr19:18528533-18528546

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr11:133446628..133447627-chr19:18526800..18527688,2	HCT-116	colon:
3	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
4	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
5	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
6	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
7	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
8	chr19:18496287..18498156-chr19:18525962..18527694,2	MCF-7	breast:
9	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
10	chr19:18483533..18485446-chr19:18527365..18529374,2	K562	blood:
11	chr19:18521178..18523940-chr19:18526171..18529152,3	MCF-7	breast:
12	chr19:18265654..18267596-chr19:18526831..18528675,2	K562	blood:
13	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
14	chr19:18527544..18530023-chr19:18699407..18700970,2	K562	blood:
15	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
16	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
17	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
18	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
19	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
20	chr19:18527420..18529466-chr19:49466752..49468633,2	K562	blood:
21	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
22	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
23	chr1:225117290..225118037-chr19:18526807..18527782,2	Hela-S3	cervix:
24	chr19:18526729..18529360-chr19:19028525..19030689,2	MCF-7	breast:
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
ENSG00000241464	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000185842	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000267898	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18524800-18527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:18524800-18527800	Flanking Active TSS	K562	blood
3	chr19:18524800-18528000	Enhancers	Primary hematopoietic stem cells	blood
4	chr19:18525000-18527600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:18525000-18527800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr19:18525000-18528000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:18525000-18528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:18525000-18529600	Enhancers	Liver	Liver
9	chr19:18525000-18529600	Enhancers	Spleen	Spleen
10	chr19:18525200-18528000	Enhancers	Brain Angular Gyrus	brain
11	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:18525400-18527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:18525400-18528000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr19:18525400-18528000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:18525400-18529600	Enhancers	Lung	lung
16	chr19:18525600-18527600	Enhancers	Esophagus	oesophagus
17	chr19:18526000-18527600	Weak transcription	Gastric	stomach
18	chr19:18526200-18528400	Flanking Active TSS	Fetal Lung	lung
19	chr19:18526400-18527600	Enhancers	Left Ventricle	heart
20	chr19:18526400-18528000	Enhancers	Pancreas	Pancrea
21	chr19:18526400-18528000	Enhancers	NHLF	lung
22	chr19:18526400-18528800	Active TSS	Ovary	ovary
23	chr19:18526600-18527600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
24	chr19:18526600-18528000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:18526600-18528000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:18526600-18528000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr19:18526600-18528000	Enhancers	HSMM	muscle
28	chr19:18526600-18528000	Enhancers	HSMMtube	muscle
29	chr19:18526600-18528000	Enhancers	HUVEC	blood vessel
30	chr19:18526800-18527600	Enhancers	GM12878-XiMat	blood
31	chr19:18526800-18528000	Enhancers	NHDF-Ad	bronchial
32	chr19:18526800-18528200	Bivalent Enhancer	Fetal Thymus	thymus
33	chr19:18527000-18527600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:18527000-18527800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr19:18527200-18527600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:18527200-18527600	Flanking Active TSS	Fetal Brain Male	brain
37	chr19:18527200-18527600	Flanking Active TSS	Fetal Brain Female	brain
38	chr19:18527200-18527600	Flanking Active TSS	Fetal Kidney	kidney
39	chr19:18527200-18527600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr19:18527200-18527600	Bivalent Enhancer	Small Intestine	intestine
41	chr19:18527200-18527800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:18527200-18527800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:18527200-18527800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr19:18527200-18527800	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr19:18527200-18527800	Flanking Active TSS	Hela-S3	cervix
46	chr19:18527200-18528000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:18527200-18528000	Bivalent Enhancer	Fetal Heart	heart
48	chr19:18527200-18528000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr19:18527200-18528200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr19:18527200-18528400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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