Variant report

Variant	rs67248178
Chromosome Location	chr19:39628683-39628684
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39624151..39625876-chr19:39627199..39629585,2	K562	blood:
2	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:
3	chr19:39628513..39631605-chr19:39651561..39654703,3	K562	blood:
4	chr19:39627514..39630051-chr19:39655173..39657511,2	MCF-7	breast:
5	chr19:39622591..39626006-chr19:39627126..39631368,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1077457	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1079442	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11083509	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11083510	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12610624	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12611361	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12611365	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12611376	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12984418	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17722300	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17795295	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2873913	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34058542	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34110379	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34270590	0.84[EUR][1000 genomes]
rs34326918	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34808880	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34846983	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35163943	0.83[EUR][1000 genomes]
rs35591784	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36148214	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3889485	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55748546	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61171111	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71356838	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71356839	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71356840	0.86[EUR][1000 genomes]
rs71356841	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs737450	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8107629	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39617000-39630800	Weak transcription	Primary T cells from cord blood	blood
2	chr19:39617000-39635000	Weak transcription	Aorta	Aorta
3	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:39617800-39630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:39617800-39641600	Weak transcription	Thymus	Thymus
6	chr19:39618400-39646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr19:39620000-39630000	Weak transcription	HepG2	liver
8	chr19:39622400-39629000	Weak transcription	NH-A	brain
9	chr19:39622400-39635200	Weak transcription	Fetal Brain Female	brain
10	chr19:39622600-39639600	Weak transcription	HSMM	muscle
11	chr19:39623000-39635200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr19:39623400-39629000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:39623400-39646000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:39623600-39630200	Weak transcription	Brain Angular Gyrus	brain
15	chr19:39623800-39630200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:39624000-39647000	Weak transcription	NHLF	lung
17	chr19:39624200-39629000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:39624200-39630200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:39624200-39634800	Weak transcription	Fetal Kidney	kidney
20	chr19:39624400-39629000	Weak transcription	Right Ventricle	heart
21	chr19:39624400-39629000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:39624400-39629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:39624400-39630200	Weak transcription	Liver	Liver
24	chr19:39624600-39629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:39624600-39629000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:39624600-39630200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:39624800-39629200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:39624800-39629400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:39624800-39629600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:39624800-39629600	Weak transcription	Left Ventricle	heart
31	chr19:39624800-39632600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:39624800-39633000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:39625000-39629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:39625000-39630000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:39625200-39629000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:39625800-39629800	Weak transcription	K562	blood
37	chr19:39626200-39629000	Strong transcription	Fetal Stomach	stomach
38	chr19:39626600-39631000	Enhancers	Spleen	Spleen
39	chr19:39626800-39629600	Enhancers	Lung	lung
40	chr19:39626800-39631200	Enhancers	Brain Substantia Nigra	brain
41	chr19:39627200-39629000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:39627200-39629200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:39627200-39646800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:39627400-39629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:39627400-39629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:39627400-39629400	Weak transcription	Colon Smooth Muscle	Colon
47	chr19:39627400-39630200	Weak transcription	Small Intestine	intestine
48	chr19:39627400-39632000	Enhancers	Brain Germinal Matrix	brain
49	chr19:39627600-39628800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:39627600-39629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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