Variant report

Variant	rs1780528
Chromosome Location	chr1:56048895-56048896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11206629	0.81[JPT][hapmap]
rs7513395	0.81[JPT][hapmap]
rs7544458	0.81[JPT][hapmap]

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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1780528	C1orf168	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56042200-56049600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:56042200-56052400	Weak transcription	Right Atrium	heart
4	chr1:56043000-56049600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:56043000-56049800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:56043000-56050200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:56043000-56050400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:56044400-56051400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:56045200-56050000	Weak transcription	Ovary	ovary
10	chr1:56045600-56049600	Weak transcription	Fetal Stomach	stomach
11	chr1:56047000-56049600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:56047000-56049600	Weak transcription	Fetal Lung	lung
13	chr1:56047000-56050000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:56047000-56050000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:56047000-56050000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:56047000-56050200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:56047000-56050400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:56047000-56050400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:56047000-56050400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:56047000-56050400	Weak transcription	Hela-S3	cervix
21	chr1:56047000-56051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:56047200-56049000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:56047400-56050400	Weak transcription	NH-A	brain
24	chr1:56047600-56050200	Weak transcription	Osteobl	bone
25	chr1:56048000-56049800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:56048000-56050400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:56048200-56049600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:56048200-56049800	Weak transcription	Aorta	Aorta
29	chr1:56048200-56049800	Weak transcription	Psoas Muscle	Psoas
30	chr1:56048200-56050200	Weak transcription	NHLF	lung
31	chr1:56048200-56050400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:56048200-56050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:56048400-56049400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:56048400-56049600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:56048400-56049600	Weak transcription	HSMM	muscle
36	chr1:56048400-56050400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:56048400-56050400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:56048400-56050400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:56048400-56050600	Weak transcription	HMEC	breast
40	chr1:56048600-56049800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:56048600-56049800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:56048600-56049800	Weak transcription	NHDF-Ad	bronchial

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