Variant report

Variant	rs73994746
Chromosome Location	chr17:63190328-63190329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63118160..63120785-chr17:63189536..63191334,2	MCF-7	breast:
2	chr17:63051389..63053102-chr17:63190028..63191785,2	MCF-7	breast:
3	chr17:63095618..63099183-chr17:63190147..63194248,3	MCF-7	breast:
4	chr17:63182143..63186643-chr17:63187200..63191451,4	K562	blood:
5	chr17:63062132..63063680-chr17:63189934..63192725,2	K562	blood:
6	chr17:63189920..63191548-chr17:63193224..63195844,2	MCF-7	breast:
7	chr17:63183585..63187054-chr17:63190056..63193067,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263470	Chromatin interaction
ENSG00000108370	Chromatin interaction
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12450836	0.81[ASN][1000 genomes]
rs12453731	0.87[ASN][1000 genomes]
rs1533335	0.81[ASN][1000 genomes]
rs2056050	0.84[ASN][1000 genomes]
rs4790957	0.81[ASN][1000 genomes]
rs4791217	0.80[ASN][1000 genomes]
rs4791220	0.94[ASN][1000 genomes]
rs60220025	0.80[ASN][1000 genomes]
rs7207726	0.96[ASN][1000 genomes]
rs73347657	0.81[ASN][1000 genomes]
rs8070231	0.81[ASN][1000 genomes]
rs8075687	0.80[ASN][1000 genomes]
rs8075956	0.80[ASN][1000 genomes]
rs8075981	0.80[ASN][1000 genomes]
rs8077696	0.81[ASN][1000 genomes]
rs8080420	0.80[ASN][1000 genomes]
rs9890021	0.80[ASN][1000 genomes]
rs9890087	0.80[ASN][1000 genomes]
rs9910756	0.80[ASN][1000 genomes]
rs9916170	0.81[ASN][1000 genomes]
rs9916720	0.81[ASN][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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63169800-63190800	Weak transcription	Gastric	stomach
2	chr17:63176400-63223800	Weak transcription	Lung	lung
3	chr17:63180000-63194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:63180600-63194800	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:63181200-63192800	Weak transcription	Dnd41	blood
6	chr17:63181200-63197400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:63182800-63192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:63184800-63197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:63187000-63194800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:63187200-63190400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:63187200-63190400	Enhancers	HSMM	muscle
13	chr17:63187200-63192000	Weak transcription	Brain Anterior Caudate	brain
14	chr17:63187400-63191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:63187800-63190600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:63188000-63190400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:63188200-63191600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:63188200-63191800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:63188200-63192200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:63188400-63191200	Enhancers	Liver	Liver
21	chr17:63188600-63190400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:63188600-63192800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:63188600-63193200	Weak transcription	GM12878-XiMat	blood
24	chr17:63188600-63197200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:63188800-63190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:63188800-63191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr17:63189000-63190600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:63189000-63198000	Weak transcription	HUVEC	blood vessel
29	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:63189400-63190400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:63189400-63190400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr17:63189600-63190400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:63189600-63190400	Flanking Active TSS	HSMMtube	muscle
34	chr17:63189600-63191200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:63190000-63199400	Weak transcription	Right Atrium	heart
36	chr17:63190200-63190400	Enhancers	Stomach Mucosa	stomach
37	chr17:63190200-63190600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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