Variant report

Variant	rs574993577
Chromosome Location	chr19:41257625-41257626
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	chr19:41255477-41257972	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:41255880-41257853	GM15510	blood:	n/a	n/a
3	TAF7	chr19:41256652-41257953	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:41255591-41257965	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:41255795-41257990	HepG2	liver:	n/a	n/a
6	MAX	chr19:41255999-41257948	H1-hESC	embryonic stem cell:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
7	FOXA2	chr19:41256222-41257678	A549	lung:	n/a	n/a
8	MYC	chr19:41256220-41257755	MCF10A-Er-Src	breast:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
9	MYC	chr19:41256146-41257842	K562	blood:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
10	ZNF143	chr19:41256171-41257784	Hela-S3	cervix:	n/a	chr19:41257073-41257091
11	POLR2A	chr19:41255403-41257957	GM12891	blood:	n/a	n/a
12	STAT5A	chr19:41256597-41257889	GM12878	blood:	n/a	chr19:41257197-41257204
13	POLR2A	chr19:41257490-41257786	A549	lung:	n/a	n/a
14	MAX	chr19:41255844-41257827	Hela-S3	cervix:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
15	TBP	chr19:41256104-41257861	K562	blood:	n/a	n/a
16	USF1	chr19:41257355-41257892	A549	lung:	n/a	n/a
17	USF1	chr19:41257565-41257735	GM12878	blood:	n/a	n/a
18	TAF1	chr19:41257458-41257829	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr19:41257447-41257825	HepG2	liver:	n/a	n/a
20	YY1	chr19:41257537-41257984	GM12878	blood:	n/a	chr19:41257824-41257834
21	BCL3	chr19:41255259-41258065	A549	lung:	n/a	n/a
22	STAT1	chr19:41256004-41257721	GM12878	blood:	n/a	chr19:41257197-41257204
23	MAX	chr19:41256228-41257777	HUVEC	blood vessel:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
24	MXI1	chr19:41255751-41257913	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:41255546-41257864	HCT-116	colon:	n/a	n/a
26	MAX	chr19:41256223-41257862	H1-hESC	embryonic stem cell:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
27	CHD2	chr19:41256174-41257860	K562	blood:	n/a	n/a
28	POLR2A	chr19:41255259-41257957	HL-60	blood:	n/a	n/a
29	POLR2A	chr19:41255355-41257801	NB4	blood:	n/a	n/a
30	TBP	chr19:41255849-41257768	Hela-S3	cervix:	n/a	n/a
31	PML	chr19:41257499-41257808	GM12878	blood:	n/a	n/a
32	TBL1XR1	chr19:41255729-41257824	K562	blood:	n/a	n/a
33	POLR2A	chr19:41255536-41257993	Hela-S3	cervix:	n/a	n/a
34	PML	chr19:41255985-41257923	K562	blood:	n/a	chr19:41256771-41256779
35	POLR2A	chr19:41255295-41258005	U87	brain:	n/a	n/a
36	REST	chr19:41255871-41258036	H1-neurons	neurons:	n/a	n/a
37	SIX5	chr19:41256091-41257745	A549	lung:	n/a	n/a
38	POLR2A	chr19:41255276-41257951	GM12891	blood:	n/a	n/a
39	POLR2A	chr19:41256564-41257957	K562	blood:	n/a	n/a
40	ZBTB33	chr19:41255684-41257975	A549	lung:	n/a	chr19:41257090-41257105 chr19:41257098-41257107
41	MAX	chr19:41255934-41257852	A549	lung:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
42	CHD2	chr19:41256136-41257764	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF1	chr19:41257430-41257749	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:41256017-41257761	HEK293	kidney:	n/a	n/a
45	E2F6	chr19:41256154-41257854	A549	lung:	n/a	chr19:41256760-41256770 chr19:41256736-41256745 chr19:41256721-41256736 chr19:41256805-41256815 chr19:41256721-41256736 chr19:41256442-41256453
46	BHLHE40	chr19:41255391-41257820	K562	blood:	n/a	chr19:41256462-41256471 chr19:41256463-41256472 chr19:41256456-41256477 chr19:41256460-41256473 chr19:41256462-41256471
47	POLR2A	chr19:41255721-41258007	GM12878	blood:	n/a	n/a
48	MYC	chr19:41255359-41257881	K562	blood:	n/a	chr19:41256419-41256432 chr19:41256421-41256430 chr19:41256420-41256430 chr19:41256416-41256435 chr19:41256461-41256472 chr19:41256420-41256431 chr19:41256419-41256432 chr19:41256422-41256431 chr19:41256460-41256473 chr19:41256417-41256432 chr19:41256461-41256470 chr19:41256421-41256430 chr19:41256462-41256471 chr19:41257268-41257276 chr19:41256461-41256472 chr19:41256419-41256432 chr19:41256462-41256471
49	TCF7L2	chr19:41255862-41257934	Hela-S3	cervix:	n/a	n/a
50	ZBTB7A	chr19:41257508-41257793	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41254487..41259247-chr19:41302579..41309995,18	K562	blood:
2	chr19:41253776..41259894-chr19:41301950..41310086,19	MCF-7	breast:
3	chr19:41219701..41225554-chr19:41255271..41259667,13	K562	blood:
4	chr11:65190254..65190996-chr19:41257060..41258041,2	Hela-S3	cervix:
5	chr19:41253175..41255589-chr19:41255801..41257660,2	MCF-7	breast:
6	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
7	chr19:41254354..41258983-chr19:41282435..41286100,11	MCF-7	breast:
8	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
9	chr19:41253829..41256175-chr19:41256460..41259109,2	K562	blood:
10	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
11	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
12	chr19:41219350..41226574-chr19:41253922..41258567,22	MCF-7	breast:
13	chr19:41219701..41226727-chr19:41253156..41258804,17	K562	blood:
14	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
15	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
16	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
17	chr19:41254948..41257942-chr19:41767479..41769277,2	MCF-7	breast:
18	chr19:41219625..41226874-chr19:41252287..41258959,29	MCF-7	breast:
19	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
20	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
21	chr19:41253320..41258890-chr19:41311950..41315573,6	MCF-7	breast:

Variant related genes	Relation type
C19orf54	TF binding region
ENSG00000123815	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1793665	chr19:41249508-41258355	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
4	esv1803061	chr19:41249508-41258355	Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
5	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
6	esv1798663	chr19:41256519-41258355	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
7	esv1799699	chr19:41256519-41258355	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
8	esv1795486	chr19:41256581-41257816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
9	esv1797942	chr19:41256581-41257816	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
10	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 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	chr19:41254600-41259200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:41255400-41258200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:41255400-41258200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:41255400-41258600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr19:41255400-41258600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:41255600-41258000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41255600-41258200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41255600-41258600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:41255600-41258800	Active TSS	Gastric	stomach
10	chr19:41255600-41259000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:41255800-41258400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:41255800-41258400	Active TSS	Fetal Kidney	kidney
13	chr19:41255800-41258600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:41255800-41258600	Active TSS	Esophagus	oesophagus
15	chr19:41255800-41258600	Active TSS	GM12878-XiMat	blood
16	chr19:41255800-41258800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:41255800-41258800	Active TSS	Right Ventricle	heart
18	chr19:41255800-41259000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr19:41256000-41257800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:41256000-41258000	Active TSS	Aorta	Aorta
21	chr19:41256000-41258000	Active TSS	Left Ventricle	heart
22	chr19:41256000-41258000	Active TSS	Spleen	Spleen
23	chr19:41256000-41258200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:41256000-41258200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:41256000-41258200	Active TSS	Liver	Liver
26	chr19:41256000-41258200	Active TSS	Lung	lung
27	chr19:41256000-41258200	Active TSS	Psoas Muscle	Psoas
28	chr19:41256000-41258400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:41256000-41258400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:41256000-41258400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:41256000-41258600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:41256000-41258600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:41256000-41258600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:41256000-41258600	Active TSS	Ovary	ovary
35	chr19:41256000-41258600	Active TSS	Pancreas	Pancrea
36	chr19:41256000-41258600	Active TSS	HSMM	muscle
37	chr19:41256000-41258800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:41256000-41258800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr19:41256200-41257800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr19:41256200-41257800	Active TSS	Fetal Heart	heart
41	chr19:41256200-41257800	Active TSS	Fetal Lung	lung
42	chr19:41256200-41257800	Active TSS	Fetal Thymus	thymus
43	chr19:41256200-41257800	Active TSS	Thymus	Thymus
44	chr19:41256200-41258000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:41256200-41258000	Active TSS	Fetal Stomach	stomach
46	chr19:41256200-41258200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:41256200-41258200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:41256200-41258200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:41256200-41258200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:41256200-41258200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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