Variant report

Variant	rs544282317
Chromosome Location	chr19:18879678-18879679
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18793477..18796514-chr19:18879346..18882602,3	MCF-7	breast:
2	chr19:18557792..18559454-chr19:18878967..18881319,2	MCF-7	breast:
3	chr19:18878304..18880203-chr19:18960332..18962357,2	MCF-7	breast:
4	chr19:18879555..18882171-chr19:18889752..18892151,2	MCF-7	breast:
5	chr19:18879339..18881296-chr19:19028545..19030550,2	MCF-7	breast:
6	chr19:18705028..18705704-chr19:18879298..18879974,3	K562	blood:
7	chr19:18878664..18880581-chr19:18958181..18960145,2	MCF-7	breast:
8	chr19:18879279..18882586-chr19:18891947..18894710,3	MCF-7	breast:
9	chr19:18879564..18881253-chr19:18901365..18903638,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005007	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105664	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv911295	chr19:18874483-18902592	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv911296	chr19:18874483-18915988	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	esv3389898	chr19:18879452-18883850	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
3	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18865000-18885000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18865400-18880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
7	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:18868000-18885400	Weak transcription	Thymus	Thymus
10	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:18873800-18879800	Weak transcription	Brain Substantia Nigra	brain
12	chr19:18873800-18880000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:18873800-18880000	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:18873800-18881400	Weak transcription	Fetal Brain Male	brain
15	chr19:18873800-18885200	Weak transcription	Spleen	Spleen
16	chr19:18873800-18889200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:18873800-18889200	Weak transcription	Left Ventricle	heart
18	chr19:18873800-18895600	Weak transcription	Ovary	ovary
19	chr19:18873800-18896200	Weak transcription	Brain Angular Gyrus	brain
20	chr19:18874000-18881200	Weak transcription	Brain Anterior Caudate	brain
21	chr19:18874000-18881600	Weak transcription	Fetal Kidney	kidney
22	chr19:18874000-18885800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:18874000-18887000	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:18874200-18886400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:18874400-18885600	Weak transcription	Right Ventricle	heart
26	chr19:18874800-18881400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:18875000-18880000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:18875200-18889200	Weak transcription	Adipose Nuclei	Adipose
29	chr19:18875400-18882000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:18875800-18886200	Weak transcription	NHLF	lung
31	chr19:18876000-18886800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:18876000-18886800	Weak transcription	A549	lung
33	chr19:18876200-18886600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:18876200-18886800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:18876200-18888800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:18876400-18879800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:18876400-18879800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:18876400-18880000	Weak transcription	Esophagus	oesophagus
39	chr19:18876400-18880000	Weak transcription	Gastric	stomach
40	chr19:18876400-18880000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:18876400-18880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:18876400-18883400	Weak transcription	Pancreas	Pancrea
43	chr19:18876400-18886600	Weak transcription	Osteobl	bone
44	chr19:18876400-18887600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr19:18876400-18888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:18876600-18880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:18876600-18880000	Weak transcription	HMEC	breast
48	chr19:18876600-18880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr19:18876600-18880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:18876600-18883200	Weak transcription	NHEK	skin

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