Variant report

Variant	rs581023
Chromosome Location	chr19:56166879-56166880
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	BACH1	chr19:56166807-56167132	K562	blood:	n/a	n/a
2	POLR2A	chr19:56165031-56167285	ProgFib	skin:	n/a	n/a
3	MAX	chr19:56166169-56167315	SK-N-SH	brain:	n/a	chr19:56166757-56166772 chr19:56167157-56167173 chr19:56166761-56166771 chr19:56166756-56166775 chr19:56166759-56166774 chr19:56166762-56166771 chr19:56166759-56166768 chr19:56166760-56166770 chr19:56166761-56166770
4	POLR2A	chr19:56164916-56167231	NB4	blood:	n/a	n/a
5	BHLHE40	chr19:56166347-56167081	HepG2	liver:	n/a	chr19:56166743-56166759 chr19:56166661-56166670 chr19:56166655-56166676 chr19:56166659-56166672 chr19:56166662-56166671
6	POLR2A	chr19:56166249-56166969	HepG2	liver:	n/a	n/a
7	YY1	chr19:56166864-56167187	GM12891	blood:	n/a	chr19:56166959-56166976 chr19:56166965-56166975 chr19:56166965-56166975 chr19:56166953-56166975 chr19:56166964-56166972
8	MYC	chr19:56166111-56167358	K562	blood:	n/a	chr19:56166757-56166772 chr19:56167157-56167173 chr19:56166761-56166771 chr19:56166756-56166775 chr19:56166759-56166774 chr19:56166762-56166771 chr19:56166759-56166768 chr19:56166760-56166770 chr19:56166761-56166770
9	USF1	chr19:56166419-56166989	H1-hESC	embryonic stem cell:	n/a	chr19:56166743-56166759 chr19:56166661-56166670 chr19:56166655-56166676 chr19:56166659-56166672 chr19:56166662-56166671
10	POLR2A	chr19:56164945-56167518	K562	blood:	n/a	n/a
11	POLR2A	chr19:56166863-56167162	SK-N-SH	brain:	n/a	n/a
12	BHLHE40	chr19:56164964-56167362	GM12878	blood:	n/a	chr19:56166743-56166759 chr19:56165519-56165535 chr19:56166661-56166670 chr19:56165625-56165641 chr19:56166655-56166676 chr19:56166659-56166672 chr19:56166662-56166671
13	POLR2A	chr19:56164939-56167194	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr19:56164949-56167718	Hela-S3	cervix:	n/a	n/a
15	ETS1	chr19:56166669-56167135	K562	blood:	n/a	chr19:56166917-56166926 chr19:56166917-56166926 chr19:56166909-56166919 chr19:56166917-56166926 chr19:56166916-56166929 chr19:56166915-56166925 chr19:56166917-56166926 chr19:56166909-56166920 chr19:56166917-56166926 chr19:56166917-56166926 chr19:56166915-56166926 chr19:56166911-56166920 chr19:56166908-56166923 chr19:56166914-56166930
16	POLR2A	chr19:56164963-56167641	GM12892	blood:	n/a	n/a
17	POLR2A	chr19:56164855-56168213	PANC-1	pancreas:	n/a	n/a
18	EGR1	chr19:56166836-56167048	GM12878	blood:	n/a	chr19:56166987-56166997 chr19:56166911-56166920 chr19:56166944-56166958
19	HCFC1	chr19:56164938-56168188	Hela-S3	cervix:	n/a	n/a
20	TBL1XR1	chr19:56164987-56167432	GM12878	blood:	n/a	n/a
21	RCOR1	chr19:56165007-56167144	Hela-S3	cervix:	n/a	n/a
22	ELF1	chr19:56164961-56167380	HCT-116	colon:	n/a	chr19:56166912-56166921 chr19:56165209-56165220 chr19:56165210-56165219 chr19:56166458-56166470
23	YY1	chr19:56166307-56167303	ECC-1	luminal epithelium:	n/a	chr19:56166581-56166591 chr19:56166959-56166976 chr19:56166965-56166975 chr19:56166965-56166975 chr19:56166577-56166586 chr19:56166953-56166975 chr19:56166581-56166591 chr19:56166964-56166972
24	CHD2	chr19:56166443-56166948	K562	blood:	n/a	n/a
25	ATF3	chr19:56166395-56167001	GM12878	blood:	n/a	chr19:56166661-56166670 chr19:56166650-56166670
26	TCF12	chr19:56166140-56167137	ECC-1	luminal epithelium:	n/a	n/a
27	E2F4	chr19:56166093-56167073	MCF10A-Er-Src	breast:	n/a	chr19:56166732-56166741
28	TAF1	chr19:56166803-56167202	GM12892	blood:	n/a	n/a
29	RUNX3	chr19:56166292-56167389	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:56164905-56167273	K562	blood:	n/a	n/a
31	POLR2A	chr19:56166272-56167349	U87	brain:	n/a	n/a
32	POLR2A	chr19:56166293-56167216	K562	blood:	n/a	n/a
33	USF2	chr19:56166456-56167167	H1-hESC	embryonic stem cell:	n/a	chr19:56166743-56166759 chr19:56166760-56166771 chr19:56166661-56166670 chr19:56166655-56166676 chr19:56166659-56166672 chr19:56166662-56166671
34	TAF1	chr19:56166817-56167119	PFSK-1	brain:	n/a	n/a
35	MAZ	chr19:56164940-56167582	IMR90	lung:	n/a	chr19:56166757-56166772 chr19:56167157-56167173 chr19:56166761-56166771 chr19:56166756-56166775 chr19:56166759-56166774 chr19:56166762-56166771 chr19:56166759-56166768 chr19:56166760-56166770 chr19:56166761-56166770
36	FOXM1	chr19:56166659-56167409	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:56164986-56167431	HL-60	blood:	n/a	n/a
38	POLR2A	chr19:56166278-56167343	U87	brain:	n/a	n/a
39	E2F4	chr19:56166759-56167212	GM12878	blood:	n/a	n/a
40	MAX	chr19:56164967-56167360	Hela-S3	cervix:	n/a	chr19:56166757-56166772 chr19:56167157-56167173 chr19:56166761-56166771 chr19:56166756-56166775 chr19:56166759-56166774 chr19:56166762-56166771 chr19:56166759-56166768 chr19:56166760-56166770 chr19:56166761-56166770
41	ZKSCAN1	chr19:56166430-56166998	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr19:56166580-56167328	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:56166862-56167187	A549	lung:	n/a	n/a
44	POLR2A	chr19:56166703-56167194	GM12891	blood:	n/a	n/a
45	YY1	chr19:56166416-56167189	K562	blood:	n/a	chr19:56166581-56166591 chr19:56166959-56166976 chr19:56166965-56166975 chr19:56166965-56166975 chr19:56166577-56166586 chr19:56166953-56166975 chr19:56166581-56166591 chr19:56166964-56166972
46	ELK1	chr19:56164985-56167377	Hela-S3	cervix:	n/a	chr19:56166917-56166926 chr19:56166917-56166926
47	TBP	chr19:56166832-56167223	HepG2	liver:	n/a	n/a
48	IRF1	chr19:56166316-56168146	K562	blood:	n/a	chr19:56166942-56166956
49	REST	chr19:56166200-56167369	H1-neurons	neurons:	n/a	chr19:56166748-56166761 chr19:56166745-56166758
50	REST	chr19:56166362-56167293	HL-60	blood:	n/a	chr19:56166748-56166761 chr19:56166745-56166758

No.	Distal block	Cell Line	Cell type
1	chr19:56164558..56166993-chr20:49346694..49348650,2	MCF-7	breast:
2	chr16:70557237..70558124-chr19:56166218..56167009,2	Hela-S3	cervix:
3	chr19:56135761..56137279-chr19:56166087..56167869,2	MCF-7	breast:
4	chr19:56164975..56168855-chr19:56176069..56182259,9	MCF-7	breast:
5	chr19:55986503..55989848-chr19:56164025..56167760,5	K562	blood:
6	chr19:55864307..55867114-chr19:56165229..56167152,3	K562	blood:
7	chr19:56165204..56168088-chr19:56651419..56654921,3	MCF-7	breast:
8	chr19:56165463..56168899-chr19:56631045..56633379,3	K562	blood:
9	chr19:55972391..55974736-chr19:56164397..56167331,2	MCF-7	breast:
10	chr19:56109729..56112451-chr19:56165377..56168122,5	MCF-7	breast:
11	chr19:55897327..55900767-chr19:56164045..56167151,4	K562	blood:
12	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
13	chr19:55970859..55974182-chr19:56164245..56166880,4	K562	blood:
14	chr19:56115993..56118637-chr19:56165089..56166891,2	K562	blood:
15	chr19:55897327..55899035-chr19:56164311..56166921,2	K562	blood:
16	chr19:56165703..56169980-chr19:56194386..56196896,5	MCF-7	breast:
17	chr19:56164264..56167135-chr19:56631802..56633967,4	K562	blood:
18	chr19:55627421..55629071-chr19:56166474..56168541,2	MCF-7	breast:
19	chr19:55850613..55852119-chr19:56166654..56168818,2	K562	blood:
20	chr19:56134733..56137004-chr19:56165358..56168098,3	MCF-7	breast:
21	chr19:56165194..56167874-chr19:56829304..56831856,2	K562	blood:
22	chr19:56110285..56113089-chr19:56164482..56167654,4	MCF-7	breast:
23	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:

Variant related genes	Relation type
U2AF2	TF binding region
ENSG00000179943	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000211571	Chromatin interaction
ENSG00000213014	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000267096	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000063245	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11545669	1.00[ASN][1000 genomes]
rs310438	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310439	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310442	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310443	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310444	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310470	0.84[EUR][1000 genomes]
rs310471	0.84[EUR][1000 genomes]
rs310474	0.84[EUR][1000 genomes]
rs507498	1.00[ASN][1000 genomes]
rs537728	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57063593	1.00[ASN][1000 genomes]
rs600106	1.00[ASN][1000 genomes]
rs612211	0.84[EUR][1000 genomes]
rs630491	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636466	0.84[EUR][1000 genomes]
rs636467	0.84[EUR][1000 genomes]
rs637788	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644230	0.84[EUR][1000 genomes]
rs679577	1.00[ASN][1000 genomes]
rs680444	1.00[ASN][1000 genomes]
rs681433	1.00[ASN][1000 genomes]
rs7246799	0.84[EUR][1000 genomes]
rs889091	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
7	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 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	chr19:56163400-56167800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:56163400-56168000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:56163400-56168200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:56163600-56167800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:56163600-56167800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:56163600-56168000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:56164200-56168000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:56164400-56167000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:56164400-56167200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:56164400-56167200	Active TSS	NHEK	skin
11	chr19:56164400-56167600	Active TSS	Hela-S3	cervix
12	chr19:56164400-56167800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:56164400-56168000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:56164400-56168000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:56164400-56168400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:56164600-56167000	Active TSS	Rectal Smooth Muscle	rectum
17	chr19:56164600-56167200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:56164600-56167200	Active TSS	Colon Smooth Muscle	Colon
19	chr19:56164600-56167200	Active TSS	Osteobl	bone
20	chr19:56164600-56167400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:56164600-56167400	Active TSS	Fetal Brain Female	brain
22	chr19:56164600-56167600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr19:56164600-56167600	Active TSS	Psoas Muscle	Psoas
24	chr19:56164600-56167800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:56164600-56167800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:56164800-56167000	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:56164800-56167000	Active TSS	Duodenum Mucosa	Duodenum
28	chr19:56164800-56167000	Active TSS	Right Ventricle	heart
29	chr19:56164800-56167000	Active TSS	Thymus	Thymus
30	chr19:56164800-56167000	Active TSS	A549	lung
31	chr19:56164800-56167000	Active TSS	Dnd41	blood
32	chr19:56164800-56167200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:56164800-56167200	Active TSS	Brain Cingulate Gyrus	brain
34	chr19:56164800-56167200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr19:56164800-56167200	Active TSS	Placenta	Placenta
36	chr19:56164800-56167200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:56164800-56167200	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr19:56164800-56167200	Active TSS	NH-A	brain
39	chr19:56164800-56167400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:56164800-56167400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:56164800-56167400	Active TSS	Fetal Intestine Large	intestine
42	chr19:56164800-56167400	Active TSS	HSMM	muscle
43	chr19:56164800-56167600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:56164800-56167600	Active TSS	NHLF	lung
45	chr19:56164800-56167800	Active TSS	Fetal Lung	lung
46	chr19:56164800-56167800	Active TSS	HMEC	breast
47	chr19:56164800-56168000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:56164800-56168000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:56164800-56168200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:56164800-56168200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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