Variant report

Variant	rs45592833
Chromosome Location	chr19:39369635-39369636
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:39369500-39369650	WERI-Rb-1	eye:	n/a	n/a
2	POLR2A	chr19:39369528-39369714	K562	blood:	n/a	n/a
3	CTCF	chr19:39369580-39369730	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr19:39369560-39369710	GM12866	blood:	n/a	n/a
5	CTCF	chr19:39369493-39369682	HepG2	liver:	n/a	n/a
6	CTCF	chr19:39369540-39369690	GM12875	blood:	n/a	n/a
7	CTCF	chr19:39369534-39369643	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:39369540-39369690	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr19:39369520-39369670	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr19:39369600-39369750	GM12871	blood:	n/a	n/a
11	CTCF	chr19:39369560-39369710	K562	blood:	n/a	n/a
12	ZBTB7A	chr19:39369504-39369739	K562	blood:	n/a	n/a
13	CTCF	chr19:39369406-39369768	K562	blood:	n/a	n/a
14	CTCF	chr19:39369580-39369730	GM12871	blood:	n/a	n/a
15	CTCF	chr19:39369500-39369650	A549	lung:	n/a	n/a
16	CTCF	chr19:39369520-39369670	GM12865	blood:	n/a	n/a
17	CTCF	chr19:39369500-39369650	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr19:39369560-39369710	GM12878	blood:	n/a	n/a
19	CTCF	chr19:39369620-39369770	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr19:39369580-39369730	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:39369560-39369710	HepG2	liver:	n/a	n/a
22	CTCF	chr19:39369497-39369688	GM12891	blood:	n/a	n/a
23	CTCF	chr19:39369524-39369673	K562	blood:	n/a	n/a
24	CTCF	chr19:39369580-39369730	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr19:39369560-39369710	NHLF	lung:	n/a	n/a
26	RAD21	chr19:39369379-39369796	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:39369500-39369650	RPTEC	kidney:	n/a	n/a
28	CTCF	chr19:39369540-39369690	GM12864	blood:	n/a	n/a
29	CTCF	chr19:39369456-39369747	GM12878	blood:	n/a	n/a
30	CTCF	chr19:39369540-39369690	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr19:39369432-39369719	K562	blood:	n/a	n/a
32	CTCF	chr19:39369600-39369750	GM12874	blood:	n/a	n/a
33	CTCF	chr19:39369520-39369670	GM12873	blood:	n/a	n/a
34	CTCF	chr19:39369560-39369710	GM12872	blood:	n/a	n/a
35	CTCF	chr19:39369515-39369642	GM12892	blood:	n/a	n/a
36	CTCF	chr19:39369500-39369790	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr19:39369500-39369650	GM12868	blood:	n/a	n/a
38	CTCF	chr19:39369520-39369670	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:39368007-39370088	PANC-1	pancreas:	n/a	n/a
40	CTCF	chr19:39369560-39369710	AG04449	skin:	n/a	n/a
41	CTCF	chr19:39369500-39369650	GM12867	blood:	n/a	n/a
42	CTCF	chr19:39369500-39369650	HCFaa	heart:	n/a	n/a
43	CTCF	chr19:39369580-39369730	NHEK	skin:	n/a	n/a
44	CTCF	chr19:39369580-39369730	GM12870	blood:	n/a	n/a
45	CTCF	chr19:39369453-39369722	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr19:39369485-39369672	GM19240	blood:	n/a	n/a
47	CTCF	chr19:39369540-39369690	RPTEC	kidney:	n/a	n/a
48	CTCF	chr19:39369531-39369641	HepG2	liver:	n/a	n/a
49	CTCF	chr19:39369500-39369650	HRE	kidney:	n/a	n/a
50	CTCF	chr19:39369500-39369650	GM12872	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39358481..39361924-chr19:39367868..39369637,3	K562	blood:
2	chr19:39338470..39342492-chr19:39367140..39370147,4	K562	blood:
3	chr19:39341787..39344352-chr19:39369532..39371797,3	MCF-7	breast:
4	chr19:39369301..39370035-chr19:39408587..39409292,2	MCF-7	breast:
5	chr19:39338392..39342144-chr19:39367920..39369868,4	K562	blood:
6	chr19:39360424..39362257-chr19:39368137..39371034,2	K562	blood:
7	chr19:39360853..39363331-chr19:39369280..39371226,2	MCF-7	breast:
8	chr19:39339112..39343595-chr19:39368855..39373078,6	MCF-7	breast:

No data

Variant related genes	Relation type
RINL	TF binding region
ENSG00000187994	Chromatin interaction
ENSG00000269050	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10402619	1.00[EUR][1000 genomes]
rs10405371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972862	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28391081	0.84[AMR][1000 genomes]
rs57403354	0.84[AMR][1000 genomes]
rs57981781	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58188607	0.84[AMR][1000 genomes]
rs73537687	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39360800-39371400	Weak transcription	NHLF	lung
2	chr19:39360800-39379200	Weak transcription	NHDF-Ad	bronchial
3	chr19:39361000-39370000	Weak transcription	Aorta	Aorta
4	chr19:39361000-39379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:39361000-39380200	Weak transcription	Psoas Muscle	Psoas
6	chr19:39361200-39369800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:39361200-39369800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:39361200-39369800	Weak transcription	Pancreas	Pancrea
9	chr19:39361200-39370000	Weak transcription	Brain Substantia Nigra	brain
10	chr19:39361200-39370400	Weak transcription	Brain Angular Gyrus	brain
11	chr19:39361200-39370600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:39361200-39370800	Weak transcription	Ovary	ovary
13	chr19:39361200-39371000	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:39361200-39371200	Weak transcription	Liver	Liver
15	chr19:39361200-39376800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:39361600-39369800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:39365400-39379400	Weak transcription	Osteobl	bone
18	chr19:39366400-39370600	Enhancers	HSMMtube	muscle
19	chr19:39366800-39369800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:39367400-39369800	Weak transcription	HSMM	muscle
21	chr19:39367400-39371400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:39367800-39369800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:39368000-39374200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:39368200-39369800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:39368200-39370000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:39368200-39370200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr19:39368200-39370400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr19:39368200-39370400	Enhancers	Small Intestine	intestine
29	chr19:39368400-39369800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr19:39368400-39369800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr19:39368400-39369800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr19:39368400-39369800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:39368400-39369800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:39368400-39370000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr19:39368400-39370000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:39368400-39370000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr19:39368400-39370400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr19:39368400-39370800	Enhancers	Primary hematopoietic stem cells	blood
39	chr19:39368600-39369800	Enhancers	Spleen	Spleen
40	chr19:39368600-39370400	Enhancers	Dnd41	blood
41	chr19:39368600-39373400	Weak transcription	Fetal Brain Male	brain
42	chr19:39368800-39369800	Weak transcription	Gastric	stomach
43	chr19:39368800-39370000	Genic enhancers	Fetal Stomach	stomach
44	chr19:39368800-39376600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:39368800-39378200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr19:39368800-39386400	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr19:39369000-39369800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:39369000-39369800	Genic enhancers	Placenta	Placenta
49	chr19:39369000-39369800	Flanking Active TSS	HepG2	liver
50	chr19:39369000-39370200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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