Variant report

Variant	rs58551711
Chromosome Location	chr19:36422039-36422040
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	MAZ	chr19:36422011-36423028	IMR90	lung:	n/a	chr19:36422407-36422416 chr19:36422406-36422416 chr19:36422406-36422417 chr19:36422403-36422418 chr19:36422408-36422415
2	PML	chr19:36421935-36422913	GM12878	blood:	n/a	chr19:36422347-36422355
3	STAT5A	chr19:36422037-36423140	GM12878	blood:	n/a	chr19:36422590-36422598
4	RAD21	chr19:36421765-36423179	A549	lung:	n/a	chr19:36422700-36422714 chr19:36422919-36422932
5	FOSL2	chr19:36421935-36423171	A549	lung:	n/a	n/a
6	POLR2A	chr19:36421985-36422992	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:36422023-36422816	PFSK-1	brain:	n/a	n/a
8	TCF12	chr19:36421790-36423321	A549	lung:	n/a	n/a
9	POLR2A	chr19:36422038-36422556	U87	brain:	n/a	n/a
10	POLR2A	chr19:36422019-36422644	ProgFib	skin:	n/a	n/a
11	POLR2A	chr19:36422013-36422881	HL-60	blood:	n/a	n/a
12	SP1	chr19:36421742-36423014	A549	lung:	n/a	chr19:36422401-36422411 chr19:36422764-36422773 chr19:36422531-36422541 chr19:36422759-36422773 chr19:36422531-36422541 chr19:36422762-36422774 chr19:36422879-36422890 chr19:36422763-36422772 chr19:36422764-36422773
13	CUX1	chr19:36421819-36422182	K562	blood:	n/a	n/a
14	POLR2A	chr19:36421960-36422871	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr19:36421992-36422908	PANC-1	pancreas:	n/a	n/a
16	SP1	chr19:36422007-36422992	A549	lung:	n/a	chr19:36422401-36422411 chr19:36422764-36422773 chr19:36422531-36422541 chr19:36422759-36422773 chr19:36422531-36422541 chr19:36422762-36422774 chr19:36422879-36422890 chr19:36422763-36422772 chr19:36422764-36422773
17	CTCF	chr19:36421999-36423255	SK-N-SH	brain:	n/a	chr19:36422697-36422710
18	NFIC	chr19:36421964-36422463	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:36422002-36422667	GM12892	blood:	n/a	n/a
20	RAD21	chr19:36421956-36423166	HCT-116	colon:	n/a	chr19:36422700-36422714 chr19:36422919-36422932
21	E2F6	chr19:36422012-36422967	A549	lung:	n/a	chr19:36422232-36422239 chr19:36422444-36422453
22	MAX	chr19:36421947-36423233	A549	lung:	n/a	chr19:36422407-36422416 chr19:36422406-36422416 chr19:36422406-36422417 chr19:36422403-36422418 chr19:36422408-36422415
23	SIN3AK20	chr19:36421960-36423089	MCF-7	breast:	n/a	n/a
24	POLR2A	chr19:36422022-36422480	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:36422027-36422534	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:36421992-36422635	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr19:36422038-36423120	A549	lung:	n/a	n/a
28	BCL3	chr19:36421773-36422833	A549	lung:	n/a	chr19:36422336-36422349
29	MTA3	chr19:36421953-36422961	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:36422005-36422709	MCF-7	breast:	n/a	n/a
31	SIX5	chr19:36421760-36423090	A549	lung:	n/a	chr19:36422594-36422603 chr19:36422596-36422605 chr19:36422593-36422607
32	ATF3	chr19:36421971-36423021	A549	lung:	n/a	chr19:36422502-36422511 chr19:36422469-36422478
33	ETS1	chr19:36421979-36422940	A549	lung:	n/a	chr19:36422593-36422606 chr19:36422594-36422607
34	BCL3	chr19:36421996-36422979	A549	lung:	n/a	chr19:36422336-36422349
35	ATF3	chr19:36422000-36423182	A549	lung:	n/a	chr19:36422502-36422511 chr19:36422469-36422478
36	SIN3AK20	chr19:36421709-36422830	A549	lung:	n/a	n/a
37	POLR2A	chr19:36422020-36422559	U87	brain:	n/a	n/a
38	FOXM1	chr19:36422015-36422919	GM12878	blood:	n/a	n/a
39	MAX	chr19:36421966-36423092	A549	lung:	n/a	chr19:36422407-36422416 chr19:36422406-36422416 chr19:36422406-36422417 chr19:36422403-36422418 chr19:36422408-36422415
40	POLR2A	chr19:36421979-36422658	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:36421942-36422729	PBDE	blood:	n/a	n/a
42	POLR2A	chr19:36422012-36422786	MCF-7	breast:	n/a	n/a
43	POLR2A	chr19:36421945-36422705	GM12878	blood:	n/a	n/a
44	ATF2	chr19:36422035-36422896	GM12878	blood:	n/a	n/a
45	KAP1	chr19:36422005-36422703	U2OS	brain:	n/a	chr19:36422347-36422355
46	ETS1	chr19:36422004-36422935	A549	lung:	n/a	chr19:36422593-36422606 chr19:36422594-36422607
47	GABPA	chr19:36421905-36422910	A549	lung:	n/a	chr19:36422443-36422454 chr19:36422667-36422676 chr19:36422445-36422454 chr19:36422440-36422454 chr19:36422443-36422457 chr19:36422665-36422674
48	POLR2A	chr19:36421995-36422793	HUVEC	blood vessel:	n/a	n/a
49	GABPA	chr19:36421951-36423128	A549	lung:	n/a	chr19:36422443-36422454 chr19:36422667-36422676 chr19:36422445-36422454 chr19:36422440-36422454 chr19:36422443-36422457 chr19:36422665-36422674
50	SMC3	chr19:36421998-36423390	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36390739..36392472-chr19:36420979..36422529,2	K562	blood:
2	chr19:36230402..36233107-chr19:36420998..36423938,3	K562	blood:
3	chr19:36408561..36410368-chr19:36420820..36422349,2	MCF-7	breast:
4	chr19:36208876..36211502-chr19:36420769..36422543,2	K562	blood:
5	chr19:36388372..36393126-chr19:36420797..36424227,6	MCF-7	breast:
6	chr19:36247011..36249990-chr19:36420044..36422413,2	K562	blood:
7	chr19:36379793..36382037-chr19:36419529..36422363,2	MCF-7	breast:
8	chr19:36421979..36422542-chr5:89770509..89771162,2	NB4	blood:
9	chr19:36421247..36424179-chr19:36438110..36439999,2	MCF-7	breast:
10	chr19:36359016..36360950-chr19:36421023..36422625,2	K562	blood:
11	chr19:36393312..36396233-chr19:36420925..36423547,3	K562	blood:
12	chr19:36389300..36392686-chr19:36419635..36422381,3	MCF-7	breast:
13	chr19:36359450..36361367-chr19:36421125..36423142,2	K562	blood:
14	chr19:36390886..36393045-chr19:36420979..36424222,3	K562	blood:
15	chr14:71786963..71787523-chr19:36421838..36422619,2	NB4	blood:
16	chr19:36420760..36422359-chr19:36480786..36482872,2	K562	blood:
17	chr19:36415212..36417969-chr19:36419526..36423356,3	MCF-7	breast:

Variant related genes	Relation type
LRFN3	TF binding region
ENSG00000004776	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000126264	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000197555	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000126246	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10221486	0.91[EUR][1000 genomes]
rs1057265	0.95[EUR][1000 genomes]
rs11084834	0.81[EUR][1000 genomes]
rs11878444	0.95[EUR][1000 genomes]
rs11878880	0.87[EUR][1000 genomes]
rs11879537	0.91[EUR][1000 genomes]
rs11880909	0.81[EUR][1000 genomes]
rs11881157	0.91[EUR][1000 genomes]
rs11881358	0.81[EUR][1000 genomes]
rs11881364	0.81[EUR][1000 genomes]
rs11881451	0.81[EUR][1000 genomes]
rs11882386	0.95[EUR][1000 genomes]
rs13382036	0.91[EUR][1000 genomes]
rs16970735	0.81[EUR][1000 genomes]
rs16970737	0.81[EUR][1000 genomes]
rs16970742	0.81[EUR][1000 genomes]
rs16970744	0.81[EUR][1000 genomes]
rs172985	0.81[EUR][1000 genomes]
rs2227909	0.81[EUR][1000 genomes]
rs2242590	0.95[EUR][1000 genomes]
rs230260	0.85[EUR][1000 genomes]
rs230261	0.81[EUR][1000 genomes]
rs230262	0.81[EUR][1000 genomes]
rs230263	0.81[EUR][1000 genomes]
rs230264	0.81[EUR][1000 genomes]
rs230265	0.81[EUR][1000 genomes]
rs230266	0.81[EUR][1000 genomes]
rs230267	0.81[EUR][1000 genomes]
rs230269	0.81[EUR][1000 genomes]
rs2871778	0.81[EUR][1000 genomes]
rs34006827	0.81[EUR][1000 genomes]
rs34933126	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35423326	0.81[EUR][1000 genomes]
rs376240	0.81[EUR][1000 genomes]
rs393116	0.81[EUR][1000 genomes]
rs404299	0.81[EUR][1000 genomes]
rs443186	0.81[EUR][1000 genomes]
rs55797913	0.81[EUR][1000 genomes]
rs55816190	0.81[EUR][1000 genomes]
rs56132838	0.83[EUR][1000 genomes]
rs56744930	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56922307	0.95[EUR][1000 genomes]
rs57053076	0.81[EUR][1000 genomes]
rs57068163	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57094555	0.95[EUR][1000 genomes]
rs57412339	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57516855	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57668132	0.81[EUR][1000 genomes]
rs57962062	0.91[EUR][1000 genomes]
rs58098901	0.81[EUR][1000 genomes]
rs58109577	0.81[EUR][1000 genomes]
rs58161969	0.95[EUR][1000 genomes]
rs58291714	0.85[EUR][1000 genomes]
rs58456578	0.91[EUR][1000 genomes]
rs58504183	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58622306	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58976020	0.91[EUR][1000 genomes]
rs59123406	0.81[EUR][1000 genomes]
rs59150589	0.91[EUR][1000 genomes]
rs59399698	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59416903	0.91[EUR][1000 genomes]
rs59478831	0.85[EUR][1000 genomes]
rs59534183	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59658571	0.81[EUR][1000 genomes]
rs60073802	0.95[EUR][1000 genomes]
rs60268250	0.85[EUR][1000 genomes]
rs60576074	0.85[EUR][1000 genomes]
rs60869994	0.85[EUR][1000 genomes]
rs60935148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61623584	0.81[EUR][1000 genomes]
rs61660311	0.95[EUR][1000 genomes]
rs61672461	0.95[EUR][1000 genomes]
rs619833	0.81[EUR][1000 genomes]
rs7246259	0.91[EUR][1000 genomes]
rs7246541	0.91[EUR][1000 genomes]
rs7247000	0.91[EUR][1000 genomes]
rs7251744	0.81[EUR][1000 genomes]
rs7252526	0.91[EUR][1000 genomes]
rs7253086	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254335	0.91[EUR][1000 genomes]
rs7256280	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256433	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257789	0.91[EUR][1000 genomes]
rs7257911	0.91[EUR][1000 genomes]
rs7258909	0.81[EUR][1000 genomes]
rs7258914	0.91[EUR][1000 genomes]
rs7260613	0.85[EUR][1000 genomes]
rs73590883	0.85[EUR][1000 genomes]
rs73590895	0.81[EUR][1000 genomes]
rs73599539	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599540	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599546	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73599554	0.91[EUR][1000 genomes]
rs73599561	0.95[EUR][1000 genomes]
rs73599565	0.95[EUR][1000 genomes]
rs73599577	0.95[EUR][1000 genomes]
rs73599586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599600	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599602	0.95[EUR][1000 genomes]
rs73928332	0.81[EUR][1000 genomes]
rs73928333	0.81[EUR][1000 genomes]
rs73928364	0.91[EUR][1000 genomes]
rs807660	0.81[EUR][1000 genomes]
rs8106732	0.81[EUR][1000 genomes]
rs8110868	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110926	0.81[EUR][1000 genomes]
rs8111209	0.81[EUR][1000 genomes]
rs8111348	0.81[EUR][1000 genomes]
rs879407	0.81[EUR][1000 genomes]
rs909135	0.90[EUR][1000 genomes]
rs909136	0.90[EUR][1000 genomes]
rs9749325	0.81[EUR][1000 genomes]
rs9749492	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36420400-36423000	Enhancers	Fetal Thymus	thymus
2	chr19:36420600-36422400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr19:36420800-36423000	Enhancers	Spleen	Spleen
4	chr19:36421200-36423200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:36421600-36422800	Active TSS	Thymus	Thymus
6	chr19:36421800-36422200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:36421800-36422200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:36421800-36422200	Flanking Active TSS	A549	lung
9	chr19:36421800-36422400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:36421800-36422400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr19:36421800-36422400	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr19:36421800-36422400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:36421800-36422800	Active TSS	Brain Anterior Caudate	brain
14	chr19:36421800-36422800	Enhancers	Fetal Heart	heart
15	chr19:36422000-36422200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:36422000-36422200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:36422000-36422200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:36422000-36422200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:36422000-36422200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:36422000-36422200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:36422000-36422200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:36422000-36422200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr19:36422000-36422200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:36422000-36422200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:36422000-36422200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:36422000-36422200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:36422000-36422200	Active TSS	Colonic Mucosa	Colon
28	chr19:36422000-36422200	Active TSS	Fetal Intestine Large	intestine
29	chr19:36422000-36422200	Active TSS	Fetal Intestine Small	intestine
30	chr19:36422000-36422200	Flanking Active TSS	Fetal Kidney	kidney
31	chr19:36422000-36422200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr19:36422000-36422200	Flanking Active TSS	Fetal Lung	lung
33	chr19:36422000-36422200	Flanking Active TSS	Hela-S3	cervix
34	chr19:36422000-36422200	Flanking Active TSS	K562	blood
35	chr19:36422000-36422200	Flanking Active TSS	NHDF-Ad	bronchial
36	chr19:36422000-36422400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:36422000-36422400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:36422000-36422400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr19:36422000-36422400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr19:36422000-36422400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr19:36422000-36422400	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr19:36422000-36422400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr19:36422000-36422400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr19:36422000-36422400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr19:36422000-36422400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:36422000-36422400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr19:36422000-36422400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr19:36422000-36422400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr19:36422000-36422400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:36422000-36422400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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