Variant report

Variant	rs1423053
Chromosome Location	chr19:56111420-56111421
allele	A/C
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	CHD2	chr19:56110558-56111948	K562	blood:	n/a	n/a
2	HDAC2	chr19:56111303-56111610	K562	blood:	n/a	n/a
3	ETS1	chr19:56111193-56111754	GM12878	blood:	n/a	chr19:56111514-56111524 chr19:56111599-56111613 chr19:56111590-56111601
4	EP300	chr19:56110772-56111597	GM12878	blood:	n/a	chr19:56110789-56110805 chr19:56110841-56110857
5	YY1	chr19:56110310-56111765	GM12891	blood:	n/a	chr19:56110867-56110881 chr19:56110866-56110880 chr19:56111041-56111049 chr19:56111363-56111373 chr19:56111036-56111055 chr19:56111337-56111359 chr19:56111038-56111060 chr19:56110725-56110739
6	FOXM1	chr19:56110347-56111682	GM12878	blood:	n/a	n/a
7	TBL1XR1	chr19:56110307-56111638	K562	blood:	n/a	n/a
8	ETS1	chr19:56110522-56111812	K562	blood:	n/a	chr19:56111514-56111524 chr19:56111599-56111613 chr19:56110667-56110678 chr19:56110870-56110881 chr19:56111590-56111601
9	ATF1	chr19:56110298-56111498	K562	blood:	n/a	n/a
10	JUND	chr19:56110081-56111648	H1-hESC	embryonic stem cell:	n/a	chr19:56111585-56111594 chr19:56110711-56110720
11	YY1	chr19:56110210-56112179	SK-N-SH_RA	brain:	n/a	chr19:56111931-56111945 chr19:56110867-56110881 chr19:56111936-56111945 chr19:56110866-56110880 chr19:56111041-56111049 chr19:56111363-56111373 chr19:56111792-56111803 chr19:56111036-56111055 chr19:56111337-56111359 chr19:56111038-56111060 chr19:56111934-56111948 chr19:56111799-56111810 chr19:56110725-56110739 chr19:56111930-56111944 chr19:56111786-56111800
12	POLR2A	chr19:56110343-56112269	HCT-116	colon:	n/a	n/a
13	MAX	chr19:56110233-56111646	NB4	blood:	n/a	chr19:56110495-56110505
14	TCF7L2	chr19:56110614-56111593	Hela-S3	cervix:	n/a	n/a
15	ELF1	chr19:56110220-56111625	A549	lung:	n/a	chr19:56111580-56111592
16	REST	chr19:56109773-56111723	A549	lung:	n/a	chr19:56110729-56110742 chr19:56110666-56110679 chr19:56111112-56111120 chr19:56110867-56110880
17	TAF1	chr19:56110465-56111546	GM12891	blood:	n/a	n/a
18	NFIC	chr19:56110565-56111607	HepG2	liver:	n/a	n/a
19	CTCF	chr19:56111400-56111550	AG04449	skin:	n/a	n/a
20	FOSL1	chr19:56111247-56111777	H1-hESC	embryonic stem cell:	n/a	chr19:56111585-56111594
21	TAF1	chr19:56110309-56111780	ECC-1	luminal epithelium:	n/a	n/a
22	HDAC2	chr19:56111401-56111785	H1-hESC	embryonic stem cell:	n/a	chr19:56111732-56111741 chr19:56111734-56111743
23	HCFC1	chr19:56109967-56112882	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr19:56110197-56112202	H1-hESC	embryonic stem cell:	n/a	n/a
25	NRF1	chr19:56111338-56111627	K562	blood:	n/a	chr19:56111579-56111588 chr19:56111504-56111515 chr19:56111505-56111519 chr19:56111505-56111516 chr19:56111502-56111516 chr19:56111505-56111514
26	JUN	chr19:56110811-56111556	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:56110403-56112396	HCT-116	colon:	n/a	n/a
28	EP300	chr19:56110491-56111654	A549	lung:	n/a	chr19:56110789-56110805 chr19:56110640-56110656 chr19:56110841-56110857
29	RCOR1	chr19:56110226-56111674	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr19:56110279-56112325	HepG2	liver:	n/a	n/a
31	CREB1	chr19:56110230-56112225	H1-hESC	embryonic stem cell:	n/a	n/a
32	POU2F2	chr19:56110823-56111601	GM12878	blood:	n/a	chr19:56111340-56111351
33	TAF1	chr19:56110393-56112223	ECC-1	luminal epithelium:	n/a	n/a
34	SIN3A	chr19:56110320-56111684	GM12878	blood:	n/a	n/a
35	CREB1	chr19:56111390-56111738	A549	lung:	n/a	n/a
36	HA-E2F1	chr19:56110713-56112124	Hela-S3	cervix:	n/a	chr19:56111952-56111962 chr19:56111568-56111575 chr19:56111586-56111597 chr19:56111508-56111518 chr19:56111568-56111575 chr19:56111931-56111941 chr19:56111371-56111378 chr19:56111506-56111515 chr19:56111371-56111378 chr19:56111568-56111575 chr19:56110870-56110880 chr19:56110725-56110735 chr19:56111586-56111598 chr19:56111371-56111378 chr19:56111936-56111945
37	POLR2A	chr19:56110306-56111505	HepG2	liver:	n/a	n/a
38	TAF1	chr19:56111153-56111632	HepG2	liver:	n/a	n/a
39	MYBL2	chr19:56110330-56111767	HepG2	liver:	n/a	n/a
40	BHLHE40	chr19:56110278-56112129	GM12878	blood:	n/a	chr19:56111932-56111948
41	MAX	chr19:56110285-56112008	Hela-S3	cervix:	n/a	chr19:56111783-56111793 chr19:56110495-56110505
42	POLR2A	chr19:56110299-56112347	HUVEC	blood vessel:	n/a	n/a
43	MYC	chr19:56110264-56112022	K562	blood:	n/a	chr19:56111783-56111793 chr19:56110495-56110505
44	MAFK	chr19:56110964-56111525	HepG2	liver:	n/a	n/a
45	GABPA	chr19:56111400-56111664	GM12878	blood:	n/a	chr19:56111579-56111588 chr19:56111505-56111519 chr19:56111505-56111516 chr19:56111502-56111516 chr19:56111505-56111514
46	MAX	chr19:56110811-56111768	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:56110211-56112145	K562	blood:	n/a	n/a
48	BACH1	chr19:56111370-56111864	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:56110141-56113242	HepG2	liver:	n/a	n/a
50	YY1	chr19:56110217-56112133	K562	blood:	n/a	chr19:56111931-56111945 chr19:56110867-56110881 chr19:56111936-56111945 chr19:56110866-56110880 chr19:56111041-56111049 chr19:56111363-56111373 chr19:56111792-56111803 chr19:56111036-56111055 chr19:56111337-56111359 chr19:56111038-56111060 chr19:56111934-56111948 chr19:56111799-56111810 chr19:56110725-56110739 chr19:56111930-56111944 chr19:56111786-56111800

No.	Distal block	Cell Line	Cell type
1	chr19:55986000..55989537-chr19:56108522..56112833,7	MCF-7	breast:
2	chr19:55726839..55729396-chr19:56109968..56112582,3	K562	blood:
3	chr19:56054458..56057373-chr19:56110132..56112985,3	MCF-7	breast:
4	chr19:56110029..56112023-chr19:56153492..56156368,2	K562	blood:
5	chr19:56109729..56112451-chr19:56165377..56168122,5	MCF-7	breast:
6	chr19:56109995..56114029-chr19:56145200..56149074,4	MCF-7	breast:
7	chr19:55986046..55989016-chr19:56110567..56114260,3	K562	blood:
8	chr19:56046531..56048112-chr19:56108698..56111511,2	MCF-7	breast:
9	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:
10	chr19:55789004..55791837-chr19:56110524..56113034,2	K562	blood:
11	chr19:55986419..55989388-chr19:56109213..56112341,4	K562	blood:
12	chr1:28832112..28832968-chr19:56111203..56112184,2	Hela-S3	cervix:
13	chr19:55994299..55997215-chr19:56109132..56111964,3	K562	blood:
14	chr19:56109380..56112832-chr19:56163189..56166704,4	K562	blood:
15	chr19:55685793..55687332-chr19:56110126..56112536,2	K562	blood:
16	chr19:56110415..56112373-chr19:56134518..56138349,4	MCF-7	breast:
17	chr19:56110428..56112493-chr19:56168408..56170811,2	MCF-7	breast:
18	chr19:56110713..56111422-chr8:134308869..134309544,2	Hela-S3	cervix:
19	chr19:55971481..55973062-chr19:56110408..56111924,2	MCF-7	breast:
20	chr19:55917650..55919623-chr19:56109574..56112521,4	MCF-7	breast:
21	chr19:56110522..56112658-chr19:56163189..56166668,4	K562	blood:
22	chr19:56109378..56114662-chr19:56134412..56139001,15	K562	blood:
23	chr19:55972027..55974548-chr19:56111000..56113265,2	MCF-7	breast:
24	chr19:56087311..56094258-chr19:56108819..56113699,11	K562	blood:
25	chr19:56110764..56111777-chr6:52441462..52442203,3	Hela-S3	cervix:
26	chr15:78729890..78730544-chr19:56111063..56111868,2	Hela-S3	cervix:
27	chr19:56087628..56093963-chr19:56108517..56113906,9	MCF-7	breast:
28	chr19:56109287..56112853-chr19:56149861..56154883,7	MCF-7	breast:
29	chr19:55685793..55687548-chr19:56110126..56112399,2	K562	blood:
30	chr19:55590451..55592160-chr19:56109992..56112858,2	K562	blood:
31	chr19:56110523..56113100-chr19:56152133..56154992,3	K562	blood:
32	chr19:56091409..56094452-chr19:56108819..56113428,6	K562	blood:
33	chr19:55917877..55920503-chr19:56111114..56113096,2	K562	blood:
34	chr19:56110285..56113089-chr19:56164482..56167654,4	MCF-7	breast:
35	chr19:56107792..56111497-chr19:56151607..56154571,3	MCF-7	breast:
36	chr19:55971482..55974428-chr19:56110628..56113037,3	K562	blood:
37	chr19:56110896..56111544-chr2:149402301..149403005,2	Hela-S3	cervix:
38	chr19:55996873..55998600-chr19:56111069..56112624,2	K562	blood:

Variant related genes	Relation type
FIZ1	TF binding region
ZNF524	TF binding region
ENSG00000136381	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000225791	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000187550	Chromatin interaction
ENSG00000104419	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000231274	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000135999	Chromatin interaction
ENSG00000065308	Chromatin interaction
ENSG00000133265	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1423054	0.95[ASN][1000 genomes]
rs2902749	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs310458	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs310459	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs310460	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs310461	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs310462	0.95[ASN][1000 genomes]
rs497264	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs498199	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs609075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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 target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	esv3376919	chr19:56110840-56112888	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 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	chr19:56108800-56111600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56109000-56112400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:56109600-56112000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:56109800-56112000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:56109800-56112200	Active TSS	Duodenum Mucosa	Duodenum
6	chr19:56109800-56112200	Active TSS	Stomach Smooth Muscle	stomach
7	chr19:56109800-56112400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:56109800-56112400	Active TSS	Thymus	Thymus
9	chr19:56109800-56112400	Active TSS	NHDF-Ad	bronchial
10	chr19:56109800-56112600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:56109800-56113000	Active TSS	Brain Germinal Matrix	brain
12	chr19:56110000-56112200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:56110000-56112200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:56110000-56112200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:56110000-56112200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:56110000-56112200	Active TSS	Brain Cingulate Gyrus	brain
17	chr19:56110000-56112200	Active TSS	Brain Hippocampus Middle	brain
18	chr19:56110000-56112200	Active TSS	HMEC	breast
19	chr19:56110000-56112200	Active TSS	HSMM	muscle
20	chr19:56110000-56112200	Active TSS	HSMMtube	muscle
21	chr19:56110000-56112800	Active TSS	Psoas Muscle	Psoas
22	chr19:56110200-56112000	Active TSS	Primary T cells from cord blood	blood
23	chr19:56110200-56112000	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:56110200-56112000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:56110200-56112000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:56110200-56112000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:56110200-56112000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:56110200-56112000	Active TSS	Fetal Muscle Trunk	muscle
29	chr19:56110200-56112200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:56110200-56112200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:56110200-56112200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr19:56110200-56112200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:56110200-56112200	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr19:56110200-56112200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr19:56110200-56112200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:56110200-56112200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:56110200-56112200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:56110200-56112200	Active TSS	Colon Smooth Muscle	Colon
39	chr19:56110200-56112200	Active TSS	Fetal Brain Female	brain
40	chr19:56110200-56112200	Active TSS	A549	lung
41	chr19:56110200-56112200	Active TSS	GM12878-XiMat	blood
42	chr19:56110200-56112200	Active TSS	HUVEC	blood vessel
43	chr19:56110200-56112200	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr19:56110200-56112200	Active TSS	NH-A	brain
45	chr19:56110200-56112200	Active TSS	NHLF	lung
46	chr19:56110200-56112400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:56110200-56112400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr19:56110200-56112400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:56110200-56112400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:56110200-56112400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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