Variant report

Variant	rs73043015
Chromosome Location	chr19:38827805-38827806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
2	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
3	chr19:38824766..38830853-chr19:38863348..38868089,16	MCF-7	breast:
4	chr19:38825004..38828693-chr19:38863595..38867873,9	K562	blood:
5	chr19:38823410..38828693-chr19:38863569..38867873,9	K562	blood:
6	chr19:38791989..38796796-chr19:38825093..38829391,7	MCF-7	breast:
7	chr19:38825537..38827989-chr19:38835886..38838412,2	K562	blood:
8	chr19:38753791..38756428-chr19:38824915..38829046,7	MCF-7	breast:
9	chr19:38826255..38829380-chr19:38850634..38854376,3	MCF-7	breast:
10	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
11	chr19:38826223..38828930-chr19:38842574..38845020,2	MCF-7	breast:
12	chr19:38793982..38798570-chr19:38826004..38829304,4	K562	blood:
13	chr19:38826489..38830578-chr19:38835148..38838719,4	K562	blood:
14	chr19:38825745..38829204-chr19:38906597..38909224,3	K562	blood:
15	chr19:38824024..38830842-chr19:38863522..38868048,10	MCF-7	breast:
16	chr19:38793475..38795482-chr19:38826442..38828638,2	K562	blood:
17	chr19:38733984..38735573-chr19:38825634..38828607,2	K562	blood:
18	chr19:38827274..38829284-chr19:38833779..38835815,2	MCF-7	breast:
19	chr19:38746246..38748291-chr19:38825736..38828521,3	K562	blood:
20	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
21	chr19:38712277..38715341-chr19:38824721..38827828,3	K562	blood:
22	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:
23	chr19:38745286..38748830-chr19:38824490..38828580,5	K562	blood:
24	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
25	chr19:38826766..38829028-chr19:38851929..38854753,2	K562	blood:
26	chr19:38810007..38812286-chr19:38825422..38828123,4	MCF-7	breast:
27	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267748	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000130244	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060454	0.92[ASN][1000 genomes]
rs2270092	1.00[ASN][1000 genomes]
rs2286548	0.92[ASN][1000 genomes]
rs2302185	0.84[ASN][1000 genomes]
rs2302187	0.92[ASN][1000 genomes]
rs3745953	0.92[ASN][1000 genomes]
rs3786881	0.92[ASN][1000 genomes]
rs3786882	0.92[ASN][1000 genomes]
rs3885340	0.87[EUR][1000 genomes]
rs61734615	0.87[EUR][1000 genomes]
rs73037321	0.87[EUR][1000 genomes]
rs73037333	0.84[EUR][1000 genomes]
rs73037343	0.87[EUR][1000 genomes]
rs73037346	0.87[EUR][1000 genomes]
rs73041292	0.87[EUR][1000 genomes]
rs73043012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043019	1.00[EUR][1000 genomes]
rs73043021	1.00[EUR][1000 genomes]
rs73043022	1.00[EUR][1000 genomes]
rs73043027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043028	1.00[EUR][1000 genomes]
rs73043029	0.97[EUR][1000 genomes]
rs73043030	0.84[EUR][1000 genomes]
rs73043033	0.84[EUR][1000 genomes]
rs73043098	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv21001	chr19:38826488-38827974	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38826000-38828000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:38826000-38828000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:38826000-38828000	Active TSS	Fetal Brain Female	brain
4	chr19:38826000-38828200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:38826000-38828200	Active TSS	HSMM	muscle
6	chr19:38826200-38828000	Active TSS	Fetal Kidney	kidney
7	chr19:38826200-38828200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:38826200-38828200	Active TSS	Brain Anterior Caudate	brain
9	chr19:38826400-38828000	Active TSS	Aorta	Aorta
10	chr19:38826400-38828000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr19:38826400-38828000	Active TSS	Ovary	ovary
12	chr19:38826400-38828000	Bivalent/Poised TSS	HepG2	liver
13	chr19:38826400-38828200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:38826400-38828200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr19:38826400-38828200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:38826400-38828200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr19:38826400-38828400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr19:38826600-38828000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:38826600-38828000	Active TSS	Brain Substantia Nigra	brain
20	chr19:38826600-38828000	Active TSS	HSMMtube	muscle
21	chr19:38826600-38828200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:38826600-38828200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:38826600-38828200	Flanking Active TSS	Liver	Liver
24	chr19:38826600-38828200	Active TSS	Gastric	stomach
25	chr19:38826600-38828400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:38826600-38828400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:38826600-38828800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr19:38827200-38828000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:38827200-38828000	Flanking Active TSS	Placenta	Placenta
30	chr19:38827200-38828200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:38827200-38828200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr19:38827200-38828200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:38827200-38828200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:38827200-38828200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr19:38827200-38828200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr19:38827200-38828200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:38827200-38828400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr19:38827400-38828000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr19:38827400-38828200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:38827400-38828200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr19:38827600-38828000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:38827600-38828000	Flanking Active TSS	Fetal Stomach	stomach
43	chr19:38827600-38828200	Flanking Active TSS	Fetal Brain Male	brain
44	chr19:38827600-38828200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr19:38827600-38828400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr19:38827800-38828000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:38827800-38828000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:38827800-38828000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:38827800-38828000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:38827800-38828000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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