Variant report

Variant	rs561973751
Chromosome Location	chr19:18529813-18529814
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	RCOR1	chr19:18529709-18530326	K562	blood:	n/a	n/a
2	HDAC2	chr19:18529489-18530463	HepG2	liver:	n/a	chr19:18530235-18530249
3	MAZ	chr19:18529597-18531407	IMR90	lung:	n/a	chr19:18529634-18529643
4	POLR2A	chr19:18529695-18530595	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:18529556-18531174	HepG2	liver:	n/a	n/a
6	YY1	chr19:18529810-18530679	K562	blood:	n/a	chr19:18530437-18530446 chr19:18530405-18530419 chr19:18530438-18530449 chr19:18530431-18530445 chr19:18530255-18530269 chr19:18530410-18530419 chr19:18530434-18530448 chr19:18530402-18530416 chr19:18530142-18530156 chr19:18530440-18530449 chr19:18530532-18530541
7	MAX	chr19:18529688-18530803	A549	lung:	n/a	n/a
8	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
9	MYC	chr19:18529680-18530744	MCF-7	breast:	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	SP1	chr19:18529626-18530442	A549	lung:	n/a	chr19:18530253-18530266 chr19:18530130-18530137
12	MXI1	chr19:18529617-18529972	K562	blood:	n/a	n/a
13	HEY1	chr19:18529766-18530086	K562	blood:	n/a	n/a
14	NRF1	chr19:18529568-18530463	SK-N-SH	brain:	n/a	chr19:18530372-18530381 chr19:18530151-18530160 chr19:18530083-18530094 chr19:18530114-18530125
15	RCOR1	chr19:18529173-18530395	K562	blood:	n/a	n/a
16	PAX5	chr19:18529807-18530083	GM12878	blood:	n/a	n/a
17	MYC	chr19:18529625-18529814	MCF-7	breast:	n/a	chr19:18529634-18529643
18	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
19	SMC3	chr19:18529768-18530418	Hela-S3	cervix:	n/a	n/a
20	FOS	chr19:18529734-18529900	MCF10A-Er-Src	breast:	n/a	n/a
21	GTF2F1	chr19:18529436-18530242	K562	blood:	n/a	n/a
22	KAP1	chr19:18529431-18529950	U2OS	brain:	n/a	n/a
23	MTA3	chr19:18529513-18529937	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:18529774-18530427	HCT-116	colon:	n/a	n/a
25	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
26	MAX	chr19:18529749-18531238	HepG2	liver:	n/a	n/a
27	MXI1	chr19:18529605-18531473	IMR90	lung:	n/a	chr19:18530381-18530396
28	POLR2A	chr19:18529477-18530764	MCF-7	breast:	n/a	n/a
29	EP300	chr19:18529498-18530393	K562	blood:	n/a	chr19:18530346-18530362 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530151-18530160
30	MAX	chr19:18529576-18530608	Hela-S3	cervix:	n/a	chr19:18529634-18529643
31	EP300	chr19:18529651-18531514	SK-N-SH	brain:	n/a	chr19:18530346-18530362 chr19:18531046-18531062 chr19:18530439-18530448 chr19:18531010-18531026 chr19:18530436-18530445 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530410-18530419 chr19:18530151-18530160
32	TCF7L2	chr19:18529416-18530161	Hela-S3	cervix:	n/a	n/a
33	MAX	chr19:18529315-18530648	H1-hESC	embryonic stem cell:	n/a	chr19:18529634-18529643
34	E2F6	chr19:18529340-18530465	H1-hESC	embryonic stem cell:	n/a	chr19:18530435-18530445 chr19:18529641-18529655 chr19:18529646-18529655 chr19:18530438-18530448
35	UBTF	chr19:18529398-18530464	K562	blood:	n/a	n/a
36	HCFC1	chr19:18529420-18530465	K562	blood:	n/a	n/a
37	TAF1	chr19:18529811-18531260	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:18525346-18530410	K562	blood:	n/a	n/a
39	MAX	chr19:18529177-18531013	ECC-1	luminal epithelium:	n/a	chr19:18529211-18529221 chr19:18529634-18529643
40	POLR2A	chr19:18529767-18530395	PANC-1	pancreas:	n/a	n/a
41	HMGN3	chr19:18529390-18531020	K562	blood:	n/a	n/a
42	SMARCC1	chr19:18528948-18529973	Hela-S3	cervix:	n/a	n/a
43	MAX	chr19:18529217-18531474	HepG2	liver:	n/a	chr19:18529634-18529643
44	TEAD4	chr19:18529310-18530401	K562	blood:	n/a	n/a
45	CHD2	chr19:18529474-18531203	K562	blood:	n/a	n/a
46	SP1	chr19:18529700-18530393	A549	lung:	n/a	chr19:18530253-18530266 chr19:18530130-18530137
47	E2F6	chr19:18529346-18531198	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
48	POLR2A	chr19:18529636-18530744	PANC-1	pancreas:	n/a	n/a
49	MAX	chr19:18529572-18530718	K562	blood:	n/a	chr19:18529634-18529643
50	E2F6	chr19:18527005-18531166	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18528989-18528998 chr19:18527812-18527824 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18528562-18528577 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18528660-18528672 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18527824-18527833 chr19:18528591-18528600 chr19:18530814-18530824 chr19:18528688-18528697

No.	Distal block	Cell Line	Cell type
1	chr19:18313264..18315629-chr19:18528906..18531425,2	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18220149..18221787-chr19:18528170..18529964,2	K562	blood:
4	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
5	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
6	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
7	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
8	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
9	chr19:18527987..18529989-chr19:18630753..18632961,2	K562	blood:
10	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
11	chr19:18527544..18530023-chr19:18699407..18700970,2	K562	blood:
12	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
13	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
14	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
15	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
16	chr19:18396145..18399548-chr19:18528063..18530226,4	K562	blood:
17	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
18	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
19	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000130513	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130517	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	esv3399036	chr19:18529177-18531725	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	esv3391441	chr19:18529402-18531925	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18527200-18530000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:18527200-18530200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:18527400-18530000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:18527400-18530000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:18527400-18530000	Flanking Active TSS	Right Ventricle	heart
8	chr19:18527400-18530200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:18527600-18530000	Active TSS	Fetal Kidney	kidney
10	chr19:18527600-18530000	Enhancers	Small Intestine	intestine
11	chr19:18528000-18530200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr19:18528000-18532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:18528400-18530000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:18528400-18530400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr19:18528600-18530000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:18528600-18530000	Flanking Active TSS	A549	lung
17	chr19:18528800-18530000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr19:18528800-18530000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr19:18528800-18530000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:18528800-18530000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr19:18528800-18530000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr19:18528800-18530000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr19:18528800-18530000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr19:18528800-18530000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:18528800-18530000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:18528800-18530000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr19:18528800-18530000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr19:18528800-18530000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr19:18528800-18530000	Flanking Active TSS	Hela-S3	cervix
30	chr19:18528800-18530000	Flanking Active TSS	HepG2	liver
31	chr19:18528800-18530000	Flanking Active TSS	K562	blood
32	chr19:18528800-18530000	Flanking Active TSS	NHEK	skin
33	chr19:18528800-18530600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:18529000-18530000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:18529000-18530000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:18529000-18530000	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr19:18529000-18530000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr19:18529200-18530000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:18529200-18530000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr19:18529200-18530000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr19:18529200-18530000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr19:18529200-18530000	Flanking Active TSS	Fetal Brain Female	brain
43	chr19:18529400-18530000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr19:18529400-18530000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr19:18529400-18530000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:18529400-18530000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr19:18529400-18530000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr19:18529400-18530000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr19:18529400-18530000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr19:18529400-18530000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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