Variant report

Variant	rs28470392
Chromosome Location	chr19:38479539-38479540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38479253..38480071-chr3:38667438..38668135,2	MCF-7	breast:
2	chr19:38473416..38476574-chr19:38478709..38480543,3	MCF-7	breast:
3	chr19:38478199..38481086-chr19:38483839..38485843,2	K562	blood:
4	chr19:38395577..38399442-chr19:38478299..38480957,6	MCF-7	breast:
5	chr19:38393241..38399415-chr19:38476540..38485383,15	MCF-7	breast:
6	chr19:38440256..38441798-chr19:38479359..38480943,2	K562	blood:

Variant related genes	Relation type
ENSG00000171804	Chromatin interaction
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12386130	1.00[EUR][1000 genomes]
rs59924572	1.00[EUR][1000 genomes]
rs61729146	1.00[EUR][1000 genomes]
rs7249463	1.00[EUR][1000 genomes]
rs7254333	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38461600-38493600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:38461600-38493600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr19:38463800-38484800	Weak transcription	Fetal Stomach	stomach
4	chr19:38468200-38483600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:38469200-38479600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:38470800-38494000	Weak transcription	Right Ventricle	heart
7	chr19:38471200-38493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:38471400-38483600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:38471400-38488600	Weak transcription	NHLF	lung
10	chr19:38472200-38481200	Weak transcription	NHDF-Ad	bronchial
11	chr19:38472400-38493800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:38472600-38480400	Enhancers	Primary B cells from cord blood	blood
13	chr19:38472600-38480400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:38472600-38481000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:38472800-38489600	Weak transcription	Fetal Kidney	kidney
16	chr19:38473200-38482000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:38473200-38482600	Weak transcription	HSMM	muscle
18	chr19:38473200-38488600	Weak transcription	HSMMtube	muscle
19	chr19:38473600-38480800	Weak transcription	Small Intestine	intestine
20	chr19:38474400-38481000	Weak transcription	Esophagus	oesophagus
21	chr19:38474800-38481200	Weak transcription	Stomach Mucosa	stomach
22	chr19:38474800-38513600	Weak transcription	Gastric	stomach
23	chr19:38475000-38488600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:38475400-38479800	Enhancers	Primary B cells from peripheral blood	blood
25	chr19:38475400-38481000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:38475600-38481200	Weak transcription	Brain Angular Gyrus	brain
27	chr19:38475600-38482000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:38475800-38488600	Weak transcription	Hela-S3	cervix
29	chr19:38476000-38480200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:38476400-38482800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr19:38476400-38484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:38476600-38481400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr19:38476800-38480000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr19:38476800-38481800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr19:38476800-38482800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr19:38476800-38482800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr19:38476800-38483800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr19:38477000-38482000	Weak transcription	Brain Substantia Nigra	brain
39	chr19:38477200-38480200	Enhancers	Fetal Intestine Large	intestine
40	chr19:38477200-38483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr19:38477200-38483800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr19:38477200-38488800	Weak transcription	Brain Anterior Caudate	brain
43	chr19:38477400-38481000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:38477400-38481000	Weak transcription	Spleen	Spleen
45	chr19:38477400-38481800	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:38477400-38482000	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:38477400-38491800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:38477600-38479600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:38477600-38480200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:38477600-38480600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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