Variant report

Variant	rs73586855
Chromosome Location	chr19:51307386-51307387
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	POLR2A	chr19:51306598-51307510	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:51305171-51308575	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:51306817-51308499	MCF-7	breast:	n/a	n/a
4	MAX	chr19:51306885-51308746	HCT-116	colon:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
5	POLR2A	chr19:51307239-51308586	SK-N-MC	brain:	n/a	n/a
6	TAF1	chr19:51307329-51308544	K562	blood:	n/a	n/a
7	TAF1	chr19:51307381-51308294	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:51306345-51308647	HL-60	blood:	n/a	n/a
9	BCL3	chr19:51306668-51308338	A549	lung:	n/a	chr19:51307558-51307571 chr19:51307558-51307567 chr19:51307959-51307968 chr19:51307280-51307289
10	POLR2A	chr19:51305218-51308754	SK-N-MC	brain:	n/a	n/a
11	REST	chr19:51307232-51308752	H1-neurons	neurons:	n/a	chr19:51308032-51308039 chr19:51308032-51308052 chr19:51307571-51307584 chr19:51308032-51308052
12	MAX	chr19:51306993-51308542	K562	blood:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
13	TAF1	chr19:51307205-51308602	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr19:51307368-51308036	GM12878	blood:	n/a	n/a
15	MXI1	chr19:51306560-51308750	IMR90	lung:	n/a	chr19:51308329-51308338 chr19:51308331-51308340
16	YY1	chr19:51307000-51308447	GM12878	blood:	n/a	chr19:51307516-51307524 chr19:51307503-51307525 chr19:51307514-51307522 chr19:51307731-51307750 chr19:51307508-51307527 chr19:51307515-51307525 chr19:51308278-51308292
17	TBP	chr19:51307033-51308460	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr19:51307336-51308210	NT2-D1	testis:	n/a	chr19:51307516-51307524 chr19:51307503-51307525 chr19:51307514-51307522 chr19:51307731-51307750 chr19:51307508-51307527 chr19:51307515-51307525
19	TAF1	chr19:51307191-51308582	ECC-1	luminal epithelium:	n/a	n/a
20	MYC	chr19:51306974-51308659	A549	lung:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
21	SIN3AK20	chr19:51306850-51308702	MCF-7	breast:	n/a	n/a
22	NRF1	chr19:51307136-51307434	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr19:51307223-51308278	GM12892	blood:	n/a	chr19:51307516-51307524 chr19:51307503-51307525 chr19:51307514-51307522 chr19:51307731-51307750 chr19:51307508-51307527 chr19:51307515-51307525
24	POLR2A	chr19:51305213-51308097	GM12892	blood:	n/a	n/a
25	JUND	chr19:51307377-51308582	A549	lung:	n/a	n/a
26	POLR2A	chr19:51306721-51308607	GM12892	blood:	n/a	n/a
27	POLR2A	chr19:51306807-51308641	Hela-S3	cervix:	n/a	n/a
28	REST	chr19:51307365-51308443	HL-60	blood:	n/a	chr19:51308032-51308039 chr19:51308032-51308052 chr19:51307571-51307584 chr19:51308032-51308052
29	POLR2A	chr19:51305850-51308510	Hela-S3	cervix:	n/a	n/a
30	TAF7	chr19:51306894-51308582	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:51306624-51308585	GM18951	blood:	n/a	n/a
32	YY1	chr19:51307336-51308545	HepG2	liver:	n/a	chr19:51307516-51307524 chr19:51307503-51307525 chr19:51307514-51307522 chr19:51307731-51307750 chr19:51307508-51307527 chr19:51307515-51307525 chr19:51308278-51308292
33	MAX	chr19:51306821-51308602	Hela-S3	cervix:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
34	POLR2A	chr19:51305153-51308634	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:51306885-51308484	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr19:51305170-51308571	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr19:51307169-51308520	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr19:51306958-51308587	HUVEC	blood vessel:	n/a	n/a
39	IRF1	chr19:51306703-51308549	K562	blood:	n/a	chr19:51306800-51306807 chr19:51308224-51308238 chr19:51306932-51306949 chr19:51308347-51308361 chr19:51308280-51308294 chr19:51307441-51307454 chr19:51306937-51306949
40	POLR2A	chr19:51305179-51309471	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:51307375-51308585	A549	lung:	n/a	n/a
42	POLR2A	chr19:51306458-51308608	K562	blood:	n/a	n/a
43	MAX	chr19:51306921-51308560	NB4	blood:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51307163-51307172 chr19:51308329-51308340
44	YY1	chr19:51307268-51308594	SK-N-SH	brain:	n/a	chr19:51307516-51307524 chr19:51307503-51307525 chr19:51307514-51307522 chr19:51307731-51307750 chr19:51307508-51307527 chr19:51307515-51307525 chr19:51308278-51308292
45	CREB1	chr19:51307357-51308721	HepG2	liver:	n/a	n/a
46	MAX	chr19:51307338-51308613	H1-hESC	embryonic stem cell:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51308329-51308340
47	SIN3AK20	chr19:51306828-51308559	K562	blood:	n/a	n/a
48	EGR1	chr19:51307334-51308493	K562	blood:	n/a	chr19:51308281-51308291 chr19:51307482-51307492 chr19:51307483-51307496 chr19:51307918-51307928 chr19:51307482-51307497
49	MYC	chr19:51307308-51308552	Hela-S3	cervix:	n/a	chr19:51308329-51308339 chr19:51308330-51308339 chr19:51308330-51308339 chr19:51308328-51308337 chr19:51308330-51308339 chr19:51308329-51308340
50	POLR2A	chr19:51305452-51308828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51306486..51308352-chr19:51377900..51380168,3	K562	blood:
2	chr19:51225685..51229614-chr19:51306371..51310193,7	MCF-7	breast:
3	chr15:100888968..100891280-chr19:51305902..51308003,2	MCF-7	breast:
4	chr19:51306616..51308250-chr19:51611321..51612835,2	K562	blood:
5	chr19:51306849..51308707-chr19:51324714..51327546,2	MCF-7	breast:
6	chr19:50878289..50880426-chr19:51306206..51308776,2	K562	blood:
7	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
8	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:
9	chr19:51305915..51308029-chr19:51455480..51457752,2	K562	blood:
10	chr19:51307346..51307950-chr2:25194320..25194911,2	Hela-S3	cervix:
11	chr19:51306023..51307815-chr19:51411885..51414130,3	K562	blood:
12	chr19:51291032..51294383-chr19:51305809..51308243,6	MCF-7	breast:
13	chr19:51306828..51309257-chr19:51411309..51414080,2	MCF-7	breast:
14	chr19:51221053..51222783-chr19:51305600..51307865,2	K562	blood:
15	chr19:51161291..51162823-chr19:51306692..51308386,2	K562	blood:
16	chr19:51306795..51309015-chr19:51522024..51524887,2	K562	blood:
17	chr19:51306219..51311443-chr19:51320268..51326410,9	MCF-7	breast:
18	chr14:70233572..70234808-chr19:51306783..51308006,3	Hela-S3	cervix:
19	chr19:51306448..51310717-chr19:51372415..51375235,4	K562	blood:
20	chr19:51306094..51308089-chr20:55841025..55842580,2	MCF-7	breast:
21	chr19:51306173..51309320-chr19:51331029..51336004,5	MCF-7	breast:
22	chr19:51305829..51307927-chr19:51320436..51323745,3	MCF-7	breast:
23	chr19:51307008..51307924-chr3:33481967..33482752,2	NB4	blood:
24	chr19:51306202..51308468-chr19:51372838..51375377,2	K562	blood:
25	chr19:51014538..51017258-chr19:51306499..51308230,2	K562	blood:
26	chr19:50878669..50883054-chr19:51306301..51308717,4	MCF-7	breast:
27	chr19:51305954..51309003-chr19:51339405..51341608,4	K562	blood:
28	chr19:51305909..51308309-chr19:51411302..51414101,3	MCF-7	breast:

Variant related genes	Relation type
SNORD88C	TF binding region
C19orf48	TF binding region
SNORD88A	TF binding region
ENSG00000167751	Chromatin interaction
ENSG00000267968	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000174562	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000142544	Chromatin interaction
ENSG00000267880	Chromatin interaction
ENSG00000142513	Chromatin interaction
ENSG00000153560	Chromatin interaction
ENSG00000115137	Chromatin interaction
ENSG00000167754	Chromatin interaction
ENSG00000180279	Chromatin interaction
ENSG00000204653	Chromatin interaction
ENSG00000161677	Chromatin interaction
ENSG00000161681	Chromatin interaction
ENSG00000235034	Chromatin interaction
ENSG00000131408	Chromatin interaction
ENSG00000167748	Chromatin interaction
ENSG00000105472	Chromatin interaction
ENSG00000189419	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000129451	Chromatin interaction

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

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

rs_ID	r²[population]
rs10405938	1.00[AFR][1000 genomes]
rs10416051	1.00[AFR][1000 genomes]
rs10416096	1.00[AFR][1000 genomes]
rs10417989	0.90[AFR][1000 genomes]
rs10420205	1.00[AFR][1000 genomes]
rs28722127	0.90[AFR][1000 genomes]
rs3212827	1.00[AFR][1000 genomes]
rs3212832	1.00[AFR][1000 genomes]
rs59340026	0.90[AFR][1000 genomes]
rs73586820	1.00[AFR][1000 genomes]
rs73586821	1.00[AFR][1000 genomes]
rs73586825	1.00[AFR][1000 genomes]
rs73586828	1.00[AFR][1000 genomes]
rs73586834	1.00[AFR][1000 genomes]
rs73586837	0.90[AFR][1000 genomes]
rs73586853	1.00[AFR][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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv526232	chr19:51301230-51335943	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr19:51305200-51307400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr19:51305800-51307400	Enhancers	Spleen	Spleen
3	chr19:51305800-51309000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:51306000-51307400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr19:51306000-51307400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:51306000-51307400	Flanking Active TSS	Fetal Brain Female	brain
7	chr19:51306000-51307400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:51306000-51307400	Flanking Active TSS	HSMMtube	muscle
9	chr19:51306000-51308600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:51306000-51308600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:51306000-51309000	Active TSS	Colonic Mucosa	Colon
12	chr19:51306200-51307400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr19:51306200-51307400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:51306200-51308200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr19:51306200-51308600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:51306200-51308600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:51306200-51308600	Active TSS	Fetal Intestine Large	intestine
18	chr19:51306200-51308800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:51306200-51308800	Active TSS	NHLF	lung
20	chr19:51306400-51307400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:51306400-51307400	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr19:51306400-51307400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr19:51306400-51307400	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr19:51306400-51307400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr19:51306400-51307400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr19:51306400-51307400	Flanking Active TSS	Thymus	Thymus
27	chr19:51306400-51308600	Active TSS	Esophagus	oesophagus
28	chr19:51306400-51308800	Active TSS	H1 Cell Line	embryonic stem cell
29	chr19:51306400-51308800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr19:51306400-51308800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:51306400-51308800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:51306400-51308800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:51306400-51308800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:51306400-51309000	Active TSS	GM12878-XiMat	blood
35	chr19:51306600-51307400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr19:51306600-51307400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr19:51306600-51307400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:51306600-51307400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr19:51306600-51307400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr19:51306600-51307400	Flanking Active TSS	Liver	Liver
41	chr19:51306600-51307400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr19:51306600-51307400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:51306600-51307400	Flanking Active TSS	Placenta	Placenta
44	chr19:51306600-51308600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:51306600-51308600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:51306600-51308600	Active TSS	Fetal Intestine Small	intestine
47	chr19:51306600-51308800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:51306600-51308800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:51306600-51308800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:51306600-51308800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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