Variant report

Variant	rs73561387
Chromosome Location	chr19:23444668-23444669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr19:23444200-23444749	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:23444566-23445241	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:23444577-23445159	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr19:23444293-23444878	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:23444247-23444991	HepG2	liver:	n/a	n/a
6	FOXA1	chr19:23444221-23444763	HepG2	liver:	n/a	n/a
7	CHD2	chr19:23444267-23444841	HepG2	liver:	n/a	n/a
8	EP300	chr19:23444214-23444720	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:23444163-23444961	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:23444261-23444709	HepG2	liver:	n/a	n/a
11	RAD21	chr19:23444322-23444944	HepG2	liver:	n/a	n/a
12	MAFF	chr19:23444307-23444861	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:23444444-23445025	IMR90	lung:	n/a	n/a
14	CEBPB	chr19:23443663-23445174	HepG2	liver:	n/a	n/a
15	HDAC2	chr19:23444603-23444853	HepG2	liver:	n/a	n/a
16	MAX	chr19:23444231-23445009	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:23444585-23445195	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUN	chr19:23444216-23444857	HepG2	liver:	n/a	chr19:23444704-23444717
19	FOXA2	chr19:23444273-23444853	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:23444292-23447511	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr19:23443670-23445159	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:23444405-23444967	A549	lung:	n/a	n/a
23	MAFK	chr19:23444432-23444822	HepG2	liver:	n/a	n/a
24	TCF7L2	chr19:23444367-23444727	HepG2	liver:	n/a	n/a
25	RFX5	chr19:23444344-23444896	HepG2	liver:	n/a	n/a
26	MAFK	chr19:23444414-23444836	HepG2	liver:	n/a	n/a
27	FOXA1	chr19:23444232-23444728	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:23444570-23444959	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr19:23443966-23445054	HepG2	liver:	n/a	n/a
30	SMC3	chr19:23444334-23444939	HepG2	liver:	n/a	n/a
31	BRCA1	chr19:23444310-23444991	HepG2	liver:	n/a	n/a
32	JUND	chr19:23444140-23445011	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:23444567-23445152	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23431827..23434798-chr19:23443635..23445528,2	MCF-7	breast:
2	chr19:23443599..23446084-chr19:23455345..23457112,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092329.1-1	chr19:23444422-23447570	XLOC_013274
2	lnc-AC092329.1-1	chr19:23444026-23446676	ENSG00000213971.3
3	lnc-AC092329.1-1	chr19:23444422-23445436	ENSG00000213971.3

No data

Variant related genes	Relation type
ENSG00000269837	TF binding region
ENSG00000213971	Chromatin interaction
ENSG00000196081	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10401688	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409583	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413047	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883091	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28808363	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61200147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245811	0.83[AMR][1000 genomes]
rs73559552	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73561352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
2	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
3	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
4	nsv817826	chr19:23000745-23620632	Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
6	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	esv3424935	chr19:23111817-23495542	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	esv3429878	chr19:23246650-23590744	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	esv3410568	chr19:23246670-23590714	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	esv3433243	chr19:23249108-23585814	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	esv3387823	chr19:23265885-23590028	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
14	esv3321838	chr19:23303462-23482478	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv833789	chr19:23329463-23487797	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	esv3440847	chr19:23361380-23481908	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	esv3446056	chr19:23361400-23481878	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv579033	chr19:23387788-23461424	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv579034	chr19:23387788-23610784	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
20	nsv833790	chr19:23405972-23557520	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23433200-23455000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:23433200-23456200	Weak transcription	Small Intestine	intestine
3	chr19:23433400-23450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:23433400-23455400	Weak transcription	Stomach Mucosa	stomach
5	chr19:23433400-23455800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:23433400-23456000	Weak transcription	Osteobl	bone
7	chr19:23433600-23449400	Weak transcription	Fetal Intestine Small	intestine
8	chr19:23433600-23453800	Weak transcription	Fetal Brain Male	brain
9	chr19:23433600-23455000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:23433600-23455600	Weak transcription	Psoas Muscle	Psoas
11	chr19:23433600-23455600	Weak transcription	NHDF-Ad	bronchial
12	chr19:23433600-23455800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:23433600-23455800	Weak transcription	Right Atrium	heart
14	chr19:23433600-23455800	Weak transcription	NH-A	brain
15	chr19:23437600-23455600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:23438600-23450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:23438600-23455000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:23440400-23447600	Strong transcription	Brain Germinal Matrix	brain
19	chr19:23441200-23445000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:23441200-23445200	Strong transcription	Fetal Brain Female	brain
21	chr19:23441200-23447400	Strong transcription	Thymus	Thymus
22	chr19:23441200-23447800	Strong transcription	Primary T cells from cord blood	blood
23	chr19:23441400-23444800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:23441400-23445000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:23441400-23445000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr19:23441400-23445000	Strong transcription	Brain Hippocampus Middle	brain
27	chr19:23441400-23445000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:23441400-23445000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:23441400-23445200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:23441400-23445200	Strong transcription	Lung	lung
31	chr19:23441400-23445200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:23441400-23446200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:23441400-23446200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr19:23441400-23446800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr19:23441400-23447400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:23441400-23447400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:23441400-23447400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr19:23441400-23447400	Strong transcription	Dnd41	blood
39	chr19:23441400-23447800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:23441400-23451400	Strong transcription	Fetal Stomach	stomach
41	chr19:23441400-23452400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:23441400-23454800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:23441400-23455200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:23441400-23455200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:23441600-23444800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:23441600-23445200	Strong transcription	Primary B cells from cord blood	blood
47	chr19:23441600-23446200	Strong transcription	Brain Anterior Caudate	brain
48	chr19:23441600-23447200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:23441600-23447400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:23441600-23447400	Strong transcription	Liver	Liver

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