Variant report

Variant	rs166907
Chromosome Location	chr19:45386855-45386856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45385322..45390884-chr19:45391332..45394261,5	MCF-7	breast:
2	chr19:45384987..45387230-chr19:45396405..45398635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130204	Chromatin interaction
ENSG00000267282	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs157583	1.00[ASN][1000 genomes]
rs157587	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs394819	1.00[ASN][1000 genomes]
rs417357	1.00[ASN][1000 genomes]
rs434132	1.00[ASN][1000 genomes]
rs435380	1.00[ASN][1000 genomes]
rs439382	1.00[ASN][1000 genomes]
rs446037	1.00[ASN][1000 genomes]
rs490243	1.00[ASN][1000 genomes]
rs491153	1.00[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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45367200-45392200	Strong transcription	Fetal Stomach	stomach
2	chr19:45369800-45393000	Weak transcription	Brain Angular Gyrus	brain
3	chr19:45373000-45393000	Weak transcription	Fetal Brain Male	brain
4	chr19:45375600-45392800	Weak transcription	Hela-S3	cervix
5	chr19:45376000-45393000	Weak transcription	NHDF-Ad	bronchial
6	chr19:45376400-45389600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:45377000-45391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:45378200-45393000	Weak transcription	Brain Substantia Nigra	brain
9	chr19:45378400-45391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:45378400-45393000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:45378600-45391000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:45378600-45391000	Weak transcription	Stomach Mucosa	stomach
13	chr19:45379200-45393000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:45379400-45393000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr19:45379600-45393000	Weak transcription	HMEC	breast
16	chr19:45379800-45387800	Weak transcription	Fetal Lung	lung
17	chr19:45379800-45389000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:45379800-45393000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:45379800-45393000	Weak transcription	K562	blood
20	chr19:45379800-45393200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:45380000-45391000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:45380400-45387600	Weak transcription	Fetal Kidney	kidney
23	chr19:45380600-45390200	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:45380600-45391000	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:45380600-45392400	Strong transcription	Fetal Intestine Small	intestine
26	chr19:45380600-45393000	Weak transcription	Fetal Heart	heart
27	chr19:45380800-45387000	Weak transcription	NH-A	brain
28	chr19:45380800-45393000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:45380800-45393200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:45381000-45393000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:45381200-45393200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:45381600-45393200	Weak transcription	Small Intestine	intestine
33	chr19:45381800-45387400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:45381800-45393000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:45382000-45389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:45382000-45391000	Weak transcription	Aorta	Aorta
37	chr19:45382200-45388800	Weak transcription	NHEK	skin
38	chr19:45382400-45387400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:45382600-45387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:45382600-45388800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:45382800-45389000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:45382800-45389200	Weak transcription	Colonic Mucosa	Colon
43	chr19:45382800-45389200	Weak transcription	Ovary	ovary
44	chr19:45382800-45393200	Weak transcription	Brain Germinal Matrix	brain
45	chr19:45383000-45389400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:45383200-45387000	Weak transcription	HepG2	liver
47	chr19:45383200-45387400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:45383200-45387600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:45383200-45387600	Weak transcription	A549	lung
50	chr19:45383200-45388600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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