Variant report

Variant	rs7255488
Chromosome Location	chr19:42364800-42364801
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	POLR2A	chr19:42363501-42365411	A549	lung:	n/a	n/a
2	TAF1	chr19:42363477-42365003	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:42363492-42365452	GM12878	blood:	n/a	n/a
4	NR3C1	chr19:42363468-42365429	A549	lung:	n/a	chr19:42364276-42364285 chr19:42364257-42364266
5	POLR2A	chr19:42364627-42365149	SK-N-SH	brain:	n/a	n/a
6	ZBTB33	chr19:42363414-42364934	SK-N-SH	brain:	n/a	chr19:42364255-42364265 chr19:42363801-42363811 chr19:42364277-42364287 chr19:42364276-42364285 chr19:42364273-42364282
7	TBP	chr19:42363390-42365335	K562	blood:	n/a	n/a
8	TAL1	chr19:42363651-42365332	K562	blood:	n/a	n/a
9	MYC	chr19:42363483-42365160	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
10	RFX5	chr19:42364757-42364935	K562	blood:	n/a	n/a
11	POLR2A	chr19:42363437-42365915	HUVEC	blood vessel:	n/a	n/a
12	ETS1	chr19:42364560-42365575	A549	lung:	n/a	n/a
13	POLR2A	chr19:42363645-42368022	GM12891	blood:	n/a	n/a
14	STAT5A	chr19:42363573-42365827	GM12878	blood:	n/a	chr19:42363975-42363987 chr19:42363847-42363859
15	MAX	chr19:42363525-42365095	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
16	POLR2A	chr19:42363390-42369920	PFSK-1	brain:	n/a	n/a
17	SIN3AK20	chr19:42363610-42365163	K562	blood:	n/a	n/a
18	MYC	chr19:42363503-42365618	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
19	CREB1	chr19:42363491-42364854	A549	lung:	n/a	n/a
20	POLR2A	chr19:42363477-42365443	A549	lung:	n/a	n/a
21	POLR2A	chr19:42363378-42369942	GM12892	blood:	n/a	n/a
22	POLR2A	chr19:42363456-42367920	H1-hESC	embryonic stem cell:	n/a	n/a
23	ELF1	chr19:42364515-42366095	A549	lung:	n/a	chr19:42364697-42364709 chr19:42364624-42364636
24	POLR2A	chr19:42363517-42365120	GM18526	blood:	n/a	n/a
25	POLR2A	chr19:42363427-42365153	HCT-116	colon:	n/a	n/a
26	TBL1XR1	chr19:42364795-42364810	GM12878	blood:	n/a	n/a
27	WRNIP1	chr19:42364658-42367751	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:42363398-42368111	HUVEC	blood vessel:	n/a	n/a
29	TAF7	chr19:42363464-42365043	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr19:42363287-42365260	MCF-7	breast:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
31	TAF1	chr19:42363371-42364836	ECC-1	luminal epithelium:	n/a	n/a
32	CHD2	chr19:42363533-42364985	GM12878	blood:	n/a	chr19:42364276-42364285 chr19:42364386-42364396
33	POLR2A	chr19:42363462-42368058	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr19:42363486-42365684	K562	blood:	n/a	n/a
35	POLR2A	chr19:42363451-42369744	K562	blood:	n/a	n/a
36	TAF1	chr19:42363393-42364860	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:42363421-42379264	HepG2	liver:	n/a	n/a
38	MYC	chr19:42363068-42365488	A549	lung:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
39	CHD2	chr19:42363553-42365057	K562	blood:	n/a	chr19:42364276-42364285 chr19:42364386-42364396
40	HEY1	chr19:42363489-42367963	K562	blood:	n/a	chr19:42364548-42364563 chr19:42364341-42364356 chr19:42364693-42364708
41	POLR2A	chr19:42364755-42364955	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:42363534-42366991	Hela-S3	cervix:	n/a	n/a
43	MAX	chr19:42363445-42365063	HepG2	liver:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
44	MYC	chr19:42363533-42364897	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
45	SIN3AK20	chr19:42364651-42365878	A549	lung:	n/a	n/a
46	POLR2A	chr19:42363496-42365347	GM12892	blood:	n/a	n/a
47	ZBTB33	chr19:42363255-42366571	A549	lung:	n/a	chr19:42364255-42364265 chr19:42363801-42363811 chr19:42364277-42364287 chr19:42364276-42364285 chr19:42364273-42364282
48	GATA3	chr19:42363229-42366026	A549	lung:	n/a	chr19:42363699-42363712 chr19:42363701-42363708 chr19:42363699-42363711
49	POLR2A	chr19:42363388-42365743	K562	blood:	n/a	n/a
50	POLR2A	chr19:42363383-42365730	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42364764-42364814	SK-N-SH_RA	brain:	n/a
2	chr19:42364764-42364814	AG09319	gingival:	n/a
3	chr19:42364764-42364814	T-47D	breast:	n/a
4	chr19:42364764-42364814	BE2_C	brain:	n/a
5	chr19:42364764-42364814	HUVEC	blood vessel:	n/a
6	chr19:42364764-42364814	RPTEC	kidney:	n/a
7	chr19:42364764-42364814	Hela-S3	cervix:	n/a
8	chr19:42364764-42364814	HRCEpiC	kidney:	n/a
9	chr19:42364764-42364814	AoSMC	blood vessel:	n/a
10	chr19:42364764-42364814	AG10803	skin:	n/a
11	chr19:42364764-42364814	HRE	kidney:	n/a
12	chr19:42364764-42364814	HCPEpiC	choroid plexus:	n/a
13	chr19:42364764-42364814	HEEpiC	esophagus:	n/a
14	chr19:42364764-42364814	SKMC	muscle:	n/a
15	chr19:42364764-42364814	BJ	skin:	n/a
16	chr19:42364764-42364814	HCT-116	colon:	n/a
17	chr19:42364764-42364814	HIPEpiC	eye:	n/a
18	chr19:42364764-42364814	ECC-1	luminal epithelium:	n/a
19	chr19:42364764-42364814	AG09309	skin:	n/a
20	chr19:42364764-42364814	NB4	blood:	n/a
21	chr19:42364764-42364814	A549	lung:	n/a
22	chr19:42364764-42364814	GM19239	blood:	n/a
23	chr19:42364764-42364814	PANC-1	pancreas:	n/a
24	chr19:42364764-42364814	SK-N-MC	brain:	n/a
25	chr19:42364764-42364814	GM12878	blood:	n/a
26	chr19:42364764-42364814	HEK293	kidney:	embryo
27	chr19:42364764-42364814	Hepatocyte	liver:	n/a
28	chr19:42364764-42364814	HCF	heart:	n/a
29	chr19:42364764-42364814	ovcar-3	ovarian:	n/a
30	chr19:42364764-42364814	HMEC	breast:	n/a
31	chr19:42364764-42364814	HepG2	liver:	n/a
32	chr19:42364764-42364814	HRPEpiC	eye:	n/a
33	chr19:42364764-42364814	SK-N-SH	brain:	n/a
34	chr19:42364764-42364814	U87	brain:	n/a
35	chr19:42364764-42364814	GM12892	blood:	n/a
36	chr19:42364764-42364814	GM12891	blood:	n/a
37	chr19:42364764-42364814	LNCaP	prostate:	n/a
38	chr19:42364764-42364814	K562	blood:	n/a
39	chr19:42364764-42364814	NHDF-neo	bronchial:	n/a
40	chr19:42364764-42364814	H1-hESC	embryonic stem cell:	embryo
41	chr19:42364764-42364814	CMK	blood:	n/a
42	chr19:42364764-42364814	HCM	heart:	n/a
43	chr19:42364764-42364814	ProgFib	skin:	n/a
44	chr19:42364764-42364814	HAEpiC	amniotic membrane:	n/a
45	chr19:42364764-42364814	SAEC	small airway:	n/a
46	chr19:42364764-42364814	Caco-2	colon:	n/a
47	chr19:42364764-42364814	Jurkat	blood:	n/a
48	chr19:42364764-42364814	NT2-D1	testis:	n/a
49	chr19:42364764-42364814	HL-60	blood:	n/a
50	chr19:42364764-42364814	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42362804..42368897-chr19:42386582..42393421,16	MCF-7	breast:
2	chr19:42351673..42358248-chr19:42360570..42366998,12	K562	blood:
3	chr19:42347384..42349576-chr19:42363024..42365083,2	K562	blood:
4	chr19:42362767..42365637-chr19:42577892..42581321,5	K562	blood:
5	chr19:42333324..42335444-chr19:42364379..42366261,2	K562	blood:
6	chr12:54678901..54681605-chr19:42364228..42365826,2	K562	blood:
7	chr19:42361051..42365836-chr19:42460461..42465209,10	K562	blood:
8	chr19:42364075..42365757-chr19:42408269..42410021,2	K562	blood:
9	chr19:42361938..42366462-chr19:42459916..42465209,13	K562	blood:
10	chr19:42333324..42335444-chr19:42363709..42366261,3	K562	blood:
11	chr19:42362802..42365669-chr19:42579542..42583856,4	MCF-7	breast:
12	chr19:42363979..42365756-chr19:42409559..42411922,2	MCF-7	breast:
13	chr19:42363781..42365777-chr19:42424724..42427512,3	K562	blood:
14	chr19:42347384..42349429-chr19:42363024..42365795,2	K562	blood:
15	chr11:62599152..62599822-chr19:42364246..42365008,2	Hela-S3	cervix:
16	chr19:42362818..42366371-chr19:42406679..42410305,7	MCF-7	breast:
17	chr19:42362719..42367011-chr19:42578185..42581831,5	K562	blood:
18	chr19:42362466..42365153-chr19:42745908..42747542,2	K562	blood:
19	chr19:42364213..42366472-chr19:42430072..42433705,3	K562	blood:
20	chr19:42362135..42368129-chr19:42461941..42464761,7	MCF-7	breast:
21	chr19:42361079..42367934-chr19:42431466..42436133,8	K562	blood:
22	chr19:42362252..42368846-chr19:42460307..42464966,15	MCF-7	breast:
23	chr19:42348714..42350614-chr19:42362981..42365600,2	MCF-7	breast:

Variant related genes	Relation type
RPS19	TF binding region
RPS19	CpG island
ENSG00000269119	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000142025	Chromatin interaction
ENSG00000183103	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10406901	1.00[EUR][1000 genomes]
rs11878687	1.00[MEX][hapmap]
rs11879437	1.00[MEX][hapmap]
rs11880977	1.00[MEX][hapmap]
rs16975478	1.00[EUR][1000 genomes]
rs2191140	1.00[EUR][1000 genomes]
rs34537433	1.00[MEX][hapmap]
rs35272495	1.00[ASW][hapmap]
rs55711976	1.00[EUR][1000 genomes]
rs60395739	1.00[EUR][1000 genomes]
rs61736642	1.00[EUR][1000 genomes]
rs73545183	1.00[EUR][1000 genomes]
rs73933904	1.00[EUR][1000 genomes]
rs73933905	1.00[EUR][1000 genomes]
rs73933906	1.00[EUR][1000 genomes]
rs930103	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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats 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	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42363200-42364800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:42363200-42364800	Active TSS	Fetal Brain Female	brain
3	chr19:42363200-42364800	Active TSS	Stomach Mucosa	stomach
4	chr19:42363200-42365000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:42363200-42365000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:42363200-42365200	Active TSS	Fetal Kidney	kidney
7	chr19:42363400-42364800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:42363400-42364800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:42363400-42364800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:42363400-42364800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:42363400-42364800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:42363400-42364800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:42363400-42364800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:42363400-42364800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:42363400-42364800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:42363400-42364800	Active TSS	Brain Cingulate Gyrus	brain
17	chr19:42363400-42364800	Active TSS	Brain Substantia Nigra	brain
18	chr19:42363400-42364800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr19:42363400-42364800	Active TSS	Left Ventricle	heart
20	chr19:42363400-42364800	Active TSS	Pancreas	Pancrea
21	chr19:42363400-42364800	Active TSS	Right Ventricle	heart
22	chr19:42363400-42364800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:42363400-42364800	Active TSS	K562	blood
24	chr19:42363400-42365000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:42363400-42365000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr19:42363400-42365000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:42363400-42365000	Active TSS	Colonic Mucosa	Colon
28	chr19:42363400-42365000	Active TSS	Right Atrium	heart
29	chr19:42363400-42365000	Active TSS	NHDF-Ad	bronchial
30	chr19:42363400-42365200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:42363400-42365200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:42363400-42365200	Active TSS	Aorta	Aorta
33	chr19:42363400-42365200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:42363400-42365200	Active TSS	Ovary	ovary
35	chr19:42363400-42365200	Active TSS	Small Intestine	intestine
36	chr19:42363400-42365200	Active TSS	HSMMtube	muscle
37	chr19:42363400-42365400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr19:42363400-42365400	Active TSS	GM12878-XiMat	blood
39	chr19:42363400-42365600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr19:42363400-42365600	Active TSS	Psoas Muscle	Psoas
41	chr19:42363600-42364800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:42363600-42364800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr19:42363600-42364800	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr19:42363600-42364800	Active TSS	Primary T cells from cord blood	blood
45	chr19:42363600-42364800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:42363600-42364800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr19:42363600-42364800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:42363600-42364800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr19:42363600-42364800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:42363600-42364800	Active TSS	Muscle Satellite Cultured Cells	--

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