Variant report

Variant	rs7249465
Chromosome Location	chr19:55727830-55727831
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	MYC	chr19:55727492-55728833	K562	blood:	n/a	chr19:55728694-55728703
2	RAD21	chr19:55727802-55728650	A549	lung:	n/a	chr19:55728092-55728106 chr19:55728249-55728263
3	CEBPB	chr19:55727297-55728186	IMR90	lung:	n/a	n/a
4	ELF1	chr19:55727673-55728522	A549	lung:	n/a	chr19:55727999-55728012 chr19:55728001-55728012 chr19:55727965-55727978
5	RAD21	chr19:55727776-55728117	H1-hESC	embryonic stem cell:	n/a	chr19:55728092-55728106
6	CTCF	chr19:55727800-55727950	SK-N-SH_RA	brain:	n/a	n/a
7	NR3C1	chr19:55727718-55728655	A549	lung:	n/a	chr19:55728604-55728613
8	REST	chr19:55727764-55728826	PFSK-1	brain:	n/a	chr19:55728502-55728522 chr19:55728502-55728522 chr19:55728503-55728521 chr19:55728502-55728511 chr19:55728253-55728266 chr19:55728507-55728516 chr19:55728502-55728522 chr19:55728508-55728522 chr19:55728505-55728518
9	YY1	chr19:55727715-55728452	SK-N-SH_RA	brain:	n/a	n/a
10	RXRA	chr19:55727671-55728330	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr19:55726972-55728957	K562	blood:	n/a	n/a
12	SP1	chr19:55727638-55728196	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr19:55727228-55729044	A549	lung:	n/a	chr19:55728694-55728703 chr19:55727423-55727432
14	USF2	chr19:55726702-55728888	Hela-S3	cervix:	n/a	n/a
15	UBTF	chr19:55727764-55728907	K562	blood:	n/a	n/a
16	REST	chr19:55727740-55728762	SK-N-SH	brain:	n/a	chr19:55728502-55728522 chr19:55728502-55728522 chr19:55728503-55728521 chr19:55728502-55728511 chr19:55728253-55728266 chr19:55728507-55728516 chr19:55728502-55728522 chr19:55728508-55728522 chr19:55728505-55728518
17	JUND	chr19:55727526-55728866	SK-N-SH	brain:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
18	ELF1	chr19:55727780-55728147	GM12878	blood:	n/a	chr19:55727999-55728012 chr19:55728001-55728012 chr19:55727965-55727978
19	REST	chr19:55727752-55728786	HepG2	liver:	n/a	chr19:55728502-55728522 chr19:55728502-55728522 chr19:55728503-55728521 chr19:55728502-55728511 chr19:55728253-55728266 chr19:55728507-55728516 chr19:55728502-55728522 chr19:55728508-55728522 chr19:55728505-55728518
20	GATA2	chr19:55727742-55728117	HUVEC	blood vessel:	n/a	n/a
21	SIN3AK20	chr19:55727590-55728918	HCT-116	colon:	n/a	n/a
22	USF1	chr19:55727697-55728166	K562	blood:	n/a	n/a
23	CREB1	chr19:55727665-55728806	A549	lung:	n/a	n/a
24	RFX5	chr19:55727150-55728950	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr19:55727115-55728910	K562	blood:	n/a	n/a
26	ELF1	chr19:55727646-55728749	MCF-7	breast:	n/a	chr19:55727999-55728012 chr19:55728001-55728012 chr19:55727965-55727978
27	ELF1	chr19:55727717-55728236	K562	blood:	n/a	chr19:55727999-55728012 chr19:55728001-55728012 chr19:55727965-55727978
28	CBX3	chr19:55727534-55728972	HCT-116	colon:	n/a	n/a
29	MAFK	chr19:55727758-55728634	H1-hESC	embryonic stem cell:	n/a	chr19:55728020-55728035
30	POLR2A	chr19:55727696-55729020	HCT-116	colon:	n/a	n/a
31	POLR2A	chr19:55727719-55728540	U87	brain:	n/a	n/a
32	CBX3	chr19:55727622-55728173	K562	blood:	n/a	n/a
33	MEF2A	chr19:55727569-55728330	SK-N-SH	brain:	n/a	n/a
34	NFIC	chr19:55727729-55728191	HepG2	liver:	n/a	n/a
35	MEF2A	chr19:55727662-55728133	K562	blood:	n/a	n/a
36	TEAD4	chr19:55726775-55728999	K562	blood:	n/a	n/a
37	SIN3AK20	chr19:55727732-55728192	PFSK-1	brain:	n/a	n/a
38	REST	chr19:55727773-55728823	SK-N-SH	brain:	n/a	chr19:55728502-55728522 chr19:55728502-55728522 chr19:55728503-55728521 chr19:55728502-55728511 chr19:55728253-55728266 chr19:55728507-55728516 chr19:55728502-55728522 chr19:55728508-55728522 chr19:55728505-55728518
39	JUN	chr19:55726637-55729664	K562	blood:	n/a	chr19:55727876-55727890
40	E2F6	chr19:55727675-55728211	K562	blood:	n/a	n/a
41	POLR2A	chr19:55727687-55728704	K562	blood:	n/a	n/a
42	FOSL2	chr19:55727698-55728618	A549	lung:	n/a	chr19:55728020-55728031 chr19:55727876-55727890
43	MAX	chr19:55727042-55729016	HCT-116	colon:	n/a	chr19:55728694-55728703 chr19:55727423-55727432
44	TAF1	chr19:55727723-55728609	H1-neurons	neurons:	n/a	n/a
45	BHLHE40	chr19:55726934-55728817	K562	blood:	n/a	n/a
46	MYC	chr19:55727761-55728644	NB4	blood:	n/a	n/a
47	POLR2A	chr19:55727650-55728818	K562	blood:	n/a	n/a
48	ZBTB33	chr19:55727687-55728218	A549	lung:	n/a	n/a
49	JUND	chr19:55727761-55728883	MCF-7	breast:	n/a	chr19:55728019-55728030 chr19:55727876-55727890
50	TCF12	chr19:55727598-55728249	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55727782-55727832	Hepatocyte	liver:	n/a
2	chr19:55727782-55727832	HIPEpiC	eye:	n/a
3	chr19:55727782-55727832	AG04450	lung:	fetal
4	chr19:55727782-55727832	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:55727782-55727832	HepG2	liver:	n/a
6	chr19:55727782-55727832	AG09319	gingival:	n/a
7	chr19:55727782-55727832	NHBE	bronchial:	n/a
8	chr19:55727782-55727832	HEK293	kidney:	embryo
9	chr19:55727782-55727832	AG09309	skin:	n/a
10	chr19:55727782-55727832	PrEC	prostate:	n/a
11	chr19:55727782-55727832	GM19239	blood:	n/a
12	chr19:55727782-55727832	AoSMC	blood vessel:	n/a
13	chr19:55727782-55727832	HCF	heart:	n/a
14	chr19:55727782-55727832	PANC-1	pancreas:	n/a
15	chr19:55727782-55727832	GM12878	blood:	n/a
16	chr19:55727782-55727832	A549	lung:	n/a
17	chr19:55727782-55727832	Jurkat	blood:	n/a
18	chr19:55727782-55727832	SK-N-MC	brain:	n/a
19	chr19:55727782-55727832	HRPEpiC	eye:	n/a
20	chr19:55727782-55727832	ProgFib	skin:	n/a
21	chr19:55727782-55727832	NHDF-neo	bronchial:	n/a
22	chr19:55727782-55727832	NH-A	brain:	n/a
23	chr19:55727782-55727832	RPTEC	kidney:	n/a
24	chr19:55727782-55727832	GM06990	blood:	n/a
25	chr19:55727782-55727832	BJ	skin:	n/a
26	chr19:55727782-55727832	AG04449	skin:	fetal
27	chr19:55727782-55727832	H1-hESC	embryonic stem cell:	embryo
28	chr19:55727782-55727832	HNPCEpiC	eye:	n/a
29	chr19:55727782-55727832	NB4	blood:	n/a
30	chr19:55727782-55727832	T-47D	breast:	n/a
31	chr19:55727782-55727832	Hela-S3	cervix:	n/a
32	chr19:55727782-55727832	GM12892	blood:	n/a
33	chr19:55727782-55727832	LNCaP	prostate:	n/a
34	chr19:55727782-55727832	BE2_C	brain:	n/a
35	chr19:55727782-55727832	Caco-2	colon:	n/a
36	chr19:55727782-55727832	HEEpiC	esophagus:	n/a
37	chr19:55727782-55727832	ovcar-3	ovarian:	n/a
38	chr19:55727782-55727832	HL-60	blood:	n/a
39	chr19:55727782-55727832	CMK	blood:	n/a
40	chr19:55727782-55727832	SK-N-SH_RA	brain:	n/a
41	chr19:55727782-55727832	U87	brain:	n/a
42	chr19:55727782-55727832	PFSK-1	brain:	n/a
43	chr19:55727782-55727832	GM12891	blood:	n/a
44	chr19:55727782-55727832	IMR90	lung:	fetal
45	chr19:55727782-55727832	HCT-116	colon:	n/a
46	chr19:55727782-55727832	AG10803	skin:	n/a
47	chr19:55727782-55727832	SAEC	small airway:	n/a
48	chr19:55727782-55727832	HUVEC	blood vessel:	n/a
49	chr19:55727782-55727832	HAEpiC	amniotic membrane:	n/a
50	chr19:55727782-55727832	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
2	chr19:55726024..55729916-chr19:55768850..55773519,13	MCF-7	breast:
3	chr19:55727366..55728438-chr19:55769798..55771153,4	Hela-S3	cervix:
4	chr19:55725879..55730013-chr19:55916052..55921296,12	K562	blood:
5	chr19:55723794..55727841-chr19:55908469..55911856,3	K562	blood:
6	chr19:55683524..55688236-chr19:55723837..55729899,9	K562	blood:
7	chr19:55727193..55729698-chr19:55972676..55975009,2	K562	blood:
8	chr19:55726882..55729830-chr19:55758716..55760558,2	K562	blood:
9	chr19:55726866..55728775-chr19:55791537..55793466,2	K562	blood:
10	chr19:55726934..55728897-chr19:55951676..55953853,3	K562	blood:
11	chr19:55688567..55692973-chr19:55725028..55730023,9	K562	blood:
12	chr19:55727159..55729586-chr19:55769569..55772417,4	MCF-7	breast:
13	chr19:55723904..55730206-chr19:55894141..55899052,9	MCF-7	breast:
14	chr19:55689066..55691659-chr19:55726623..55728296,2	MCF-7	breast:
15	chr19:55723991..55730191-chr19:55895529..55902666,13	K562	blood:
16	chr19:55726786..55728358-chr19:55864550..55866363,2	K562	blood:
17	chr19:55727003..55728897-chr19:55950447..55953853,4	K562	blood:
18	chr19:55726686..55729337-chr19:55790310..55792413,2	MCF-7	breast:
19	chr19:55726173..55729345-chr19:55985956..55989855,5	K562	blood:
20	chr19:55726839..55729396-chr19:56109968..56112582,3	K562	blood:
21	chr19:55725474..55728358-chr19:55864550..55866958,2	K562	blood:
22	chr19:55676374..55679520-chr19:55726674..55730754,4	K562	blood:
23	chr19:55688544..55691824-chr19:55726439..55729589,6	K562	blood:
24	chr19:55726487..55728063-chr19:55766262..55769057,2	MCF-7	breast:
25	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
26	chr19:55725155..55730672-chr19:55787708..55794060,8	K562	blood:
27	chr19:55726436..55728514-chr19:55894954..55897683,2	MCF-7	breast:
28	chr19:55723660..55729639-chr19:55916052..55920716,13	K562	blood:
29	chr19:55656421..55658879-chr19:55726514..55729367,3	K562	blood:
30	chr19:55725965..55728542-chr19:55794758..55796322,2	K562	blood:
31	chr19:55725795..55728005-chr19:55752487..55754140,2	K562	blood:
32	chr19:55718998..55723683-chr19:55726226..55730125,7	MCF-7	breast:
33	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
34	chr19:55682890..55686413-chr19:55726859..55729575,3	K562	blood:
35	chr19:55725364..55727987-chr19:55789124..55791099,2	MCF-7	breast:
36	chr19:55726329..55730291-chr19:55739732..55743145,6	K562	blood:

Variant related genes	Relation type
ENSG00000267649	TF binding region
ENSG00000267649	CpG island
ENSG00000187902	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000180089	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10426959	1.00[EUR][1000 genomes]
rs57232155	1.00[EUR][1000 genomes]
rs73605177	1.00[EUR][1000 genomes]
rs73605189	1.00[EUR][1000 genomes]
rs73605193	1.00[EUR][1000 genomes]
rs73935333	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55722200-55728000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:55722400-55728000	Weak transcription	Pancreas	Pancrea
3	chr19:55724000-55728000	Weak transcription	Right Atrium	heart
4	chr19:55727400-55728000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:55727400-55728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:55727400-55728000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:55727400-55728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:55727400-55728000	Enhancers	Fetal Intestine Large	intestine
9	chr19:55727400-55728000	Enhancers	Right Ventricle	heart
10	chr19:55727400-55728000	Enhancers	NH-A	brain
11	chr19:55727400-55728000	Enhancers	NHEK	skin
12	chr19:55727400-55728000	Enhancers	Osteobl	bone
13	chr19:55727400-55729400	Flanking Active TSS	Hela-S3	cervix
14	chr19:55727600-55728000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:55727600-55728000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:55727600-55728000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:55727600-55728000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr19:55727600-55728000	Enhancers	HMEC	breast
19	chr19:55727600-55728000	Enhancers	NHDF-Ad	bronchial
20	chr19:55727600-55728000	Enhancers	NHLF	lung
21	chr19:55727600-55728200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:55727600-55728200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:55727600-55728400	Active TSS	A549	lung
24	chr19:55727600-55729000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr19:55727600-55729000	Enhancers	Spleen	Spleen
26	chr19:55727800-55728000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:55727800-55728000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr19:55727800-55728000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr19:55727800-55728000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr19:55727800-55728000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:55727800-55728000	Enhancers	Liver	Liver
32	chr19:55727800-55728000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr19:55727800-55728000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr19:55727800-55728000	Active TSS	Brain Hippocampus Middle	brain
35	chr19:55727800-55728000	Active TSS	Brain Substantia Nigra	brain
36	chr19:55727800-55728000	Flanking Active TSS	Colonic Mucosa	Colon
37	chr19:55727800-55728000	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:55727800-55728000	Enhancers	Esophagus	oesophagus
39	chr19:55727800-55728000	Enhancers	Fetal Heart	heart
40	chr19:55727800-55728000	Enhancers	Fetal Intestine Small	intestine
41	chr19:55727800-55728000	Enhancers	Fetal Muscle Trunk	muscle
42	chr19:55727800-55728000	Enhancers	Fetal Muscle Leg	muscle
43	chr19:55727800-55728000	Enhancers	Placenta	Placenta
44	chr19:55727800-55728000	Bivalent Enhancer	Fetal Stomach	stomach
45	chr19:55727800-55728000	Enhancers	Gastric	stomach
46	chr19:55727800-55728000	Enhancers	Lung	lung
47	chr19:55727800-55728000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr19:55727800-55728000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr19:55727800-55728000	Enhancers	GM12878-XiMat	blood
50	chr19:55727800-55728000	Enhancers	HSMM	muscle

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