Variant report

Variant	rs62119329
Chromosome Location	chr19:45188710-45188711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45184390..45185901-chr19:45187498..45190107,2	K562	blood:
2	chr19:45188654..45190939-chr19:45193804..45196138,2	K562	blood:
3	chr19:45188304..45193849-chr19:45197312..45200254,4	K562	blood:
4	chr19:45187909..45193050-chr19:45248522..45254697,7	MCF-7	breast:
5	chr19:45187752..45189310-chr19:45272623..45275497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12977854	1.00[ASN][1000 genomes]
rs12984266	0.91[EUR][1000 genomes]
rs35401363	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803740	0.91[EUR][1000 genomes]
rs4803741	1.00[ASN][1000 genomes]
rs61458713	1.00[ASN][1000 genomes]
rs62120564	1.00[ASN][1000 genomes]
rs73046432	1.00[ASN][1000 genomes]
rs73561940	1.00[ASN][1000 genomes]
rs73561943	1.00[ASN][1000 genomes]
rs73561968	1.00[ASN][1000 genomes]
rs74172479	1.00[ASN][1000 genomes]
rs8107008	1.00[ASN][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	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv9737	chr19:45178110-45206629	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45166000-45192400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:45166000-45197400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:45166200-45192600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:45166400-45192400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:45166800-45192400	Weak transcription	Colonic Mucosa	Colon
6	chr19:45167000-45192400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:45167000-45192400	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:45167000-45192800	Weak transcription	Gastric	stomach
9	chr19:45177000-45192400	Weak transcription	Liver	Liver
10	chr19:45181600-45198800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:45182200-45191800	Weak transcription	Placenta	Placenta
12	chr19:45182400-45195200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:45183600-45192200	Weak transcription	Brain Angular Gyrus	brain
14	chr19:45184800-45190200	Weak transcription	Psoas Muscle	Psoas
15	chr19:45185000-45195000	Weak transcription	HSMMtube	muscle
16	chr19:45185600-45189000	Enhancers	GM12878-XiMat	blood
17	chr19:45185600-45193400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr19:45186000-45192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:45186200-45188800	Enhancers	Pancreas	Pancrea
20	chr19:45186200-45189200	Enhancers	Spleen	Spleen
21	chr19:45187000-45188800	Enhancers	Duodenum Mucosa	Duodenum
22	chr19:45187200-45192600	Weak transcription	Right Ventricle	heart
23	chr19:45187200-45195200	Weak transcription	Ovary	ovary
24	chr19:45187400-45192400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:45187600-45190000	Weak transcription	Brain Germinal Matrix	brain
26	chr19:45187600-45190200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:45187800-45189600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:45187800-45190200	Enhancers	HUVEC	blood vessel
29	chr19:45187800-45192600	Weak transcription	Fetal Intestine Large	intestine
30	chr19:45187800-45192800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:45188000-45189600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:45188000-45189600	Enhancers	Fetal Muscle Trunk	muscle
33	chr19:45188000-45189800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:45188000-45190200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr19:45188000-45191600	Enhancers	Primary B cells from cord blood	blood
36	chr19:45188200-45188800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:45188200-45188800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr19:45188200-45188800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr19:45188200-45188800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:45188200-45188800	Enhancers	Esophagus	oesophagus
41	chr19:45188200-45188800	Enhancers	Fetal Thymus	thymus
42	chr19:45188200-45188800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr19:45188200-45188800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr19:45188200-45188800	Flanking Active TSS	A549	lung
45	chr19:45188200-45189000	Enhancers	K562	blood
46	chr19:45188200-45189200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr19:45188200-45189200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:45188200-45189400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:45188200-45189400	Enhancers	NHLF	lung
50	chr19:45188200-45189600	Enhancers	HUES6 Cell Line	embryonic stem cell

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