Variant report

Variant	rs527248143
Chromosome Location	chr19:39139406-39139407
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39138022..39142840-chr19:39322070..39325450,5	MCF-7	breast:
2	chr19:39138501..39140453-chr19:39331794..39333705,2	MCF-7	breast:
3	chr19:39137328..39141053-chr19:39337803..39340723,6	MCF-7	breast:
4	chr19:39137520..39139996-chr19:39320132..39324117,5	MCF-7	breast:
5	chr19:39135966..39142009-chr19:39184894..39201240,23	MCF-7	breast:
6	chr19:39107241..39111219-chr19:39136508..39140596,7	K562	blood:
7	chr19:39137047..39143767-chr19:39341076..39344906,12	MCF-7	breast:
8	chr10:112262036..112262941-chr19:39138833..39139418,2	Hela-S3	cervix:
9	chr19:39137584..39140325-chr19:39327324..39331607,4	MCF-7	breast:
10	chr19:39108167..39112213-chr19:39136508..39140596,7	K562	blood:
11	chr19:39138189..39142372-chr19:39210085..39214804,5	MCF-7	breast:
12	chr19:39139019..39141226-chr19:39211896..39214097,2	K562	blood:
13	chr19:39137231..39139589-chr19:39329369..39331157,2	MCF-7	breast:
14	chr19:39138420..39142103-chr19:39224990..39229224,5	MCF-7	breast:
15	chr19:39135827..39140696-chr19:39337712..39343036,10	MCF-7	breast:
16	chr19:39109034..39110948-chr19:39138125..39139962,2	MCF-7	breast:
17	chr19:39104481..39107303-chr19:39137807..39140302,2	K562	blood:
18	chr19:39035426..39037334-chr19:39139289..39140832,2	K562	blood:
19	chr19:39138000..39140768-chr19:39215687..39223350,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182472	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000138166	Chromatin interaction
ENSG00000178982	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000267892	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	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
6	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv911667	chr19:39119898-39143289	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	esv18193	chr19:39138183-39140365	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39137600-39139800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr19:39137600-39140400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:39137800-39139600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:39137800-39139600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:39137800-39139600	Active TSS	Colonic Mucosa	Colon
6	chr19:39137800-39139800	Active TSS	Fetal Muscle Leg	muscle
7	chr19:39137800-39139800	Active TSS	Fetal Stomach	stomach
8	chr19:39137800-39140000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:39137800-39140000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:39137800-39140000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:39137800-39140000	Active TSS	Brain Substantia Nigra	brain
12	chr19:39137800-39140000	Active TSS	Fetal Lung	lung
13	chr19:39137800-39140000	Active TSS	Placenta	Placenta
14	chr19:39137800-39140000	Active TSS	Stomach Smooth Muscle	stomach
15	chr19:39137800-39140000	Active TSS	GM12878-XiMat	blood
16	chr19:39137800-39140000	Active TSS	K562	blood
17	chr19:39137800-39140200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr19:39137800-39140200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:39137800-39140200	Active TSS	Brain Angular Gyrus	brain
20	chr19:39137800-39140200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:39137800-39140200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr19:39137800-39140200	Active TSS	Ovary	ovary
23	chr19:39137800-39140200	Active TSS	Right Ventricle	heart
24	chr19:39137800-39140400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:39137800-39140600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:39137800-39140800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr19:39137800-39140800	Active TSS	Rectal Smooth Muscle	rectum
28	chr19:39137800-39140800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr19:39137800-39140800	Active TSS	NH-A	brain
30	chr19:39137800-39140800	Active TSS	NHDF-Ad	bronchial
31	chr19:39137800-39141200	Active TSS	Fetal Intestine Large	intestine
32	chr19:39137800-39141600	Active TSS	HSMMtube	muscle
33	chr19:39137800-39141800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:39137800-39141800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr19:39138000-39139600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:39138000-39139800	Active TSS	Duodenum Mucosa	Duodenum
37	chr19:39138000-39139800	Active TSS	Fetal Muscle Trunk	muscle
38	chr19:39138000-39140000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr19:39138000-39140000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:39138000-39140000	Active TSS	Brain Cingulate Gyrus	brain
41	chr19:39138000-39140000	Active TSS	Brain Hippocampus Middle	brain
42	chr19:39138000-39140000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr19:39138000-39140200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:39138000-39140200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:39138000-39140200	Active TSS	NHEK	skin
46	chr19:39138000-39140400	Active TSS	HUVEC	blood vessel
47	chr19:39138000-39140400	Active TSS	Osteobl	bone
48	chr19:39138000-39140600	Active TSS	Hela-S3	cervix
49	chr19:39138000-39141000	Active TSS	NHLF	lung
50	chr19:39138000-39141200	Active TSS	Muscle Satellite Cultured Cells	--

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