Variant report

Variant	rs2056050
Chromosome Location	chr17:63189817-63189818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:62969753..62972394-chr17:63187486..63190277,2	MCF-7	breast:
2	chr17:63118160..63120785-chr17:63189536..63191334,2	MCF-7	breast:
3	chr17:63173089..63175684-chr17:63187453..63189983,2	MCF-7	breast:
4	chr17:63182143..63186643-chr17:63187200..63191451,4	K562	blood:

Variant related genes	Relation type
ENSG00000214174	Chromatin interaction
ENSG00000108370	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1004533	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs10432040	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1122079	0.82[AMR][1000 genomes]
rs12450751	0.84[AMR][1000 genomes]
rs12453731	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1473921	0.82[AMR][1000 genomes]
rs16961258	0.89[AMR][1000 genomes]
rs2869577	0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs4790955	0.85[AMR][1000 genomes]
rs4791215	0.91[AMR][1000 genomes]
rs4791220	0.80[ASN][1000 genomes]
rs4791222	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4791224	0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4791225	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4791226	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57672979	0.82[AMR][1000 genomes]
rs7207726	0.84[ASN][1000 genomes]
rs73994746	0.84[ASN][1000 genomes]
rs8072603	0.81[CHB][hapmap]
rs8078678	0.82[AMR][1000 genomes]
rs8079250	0.84[ASN][1000 genomes]
rs9916445	0.81[AMR][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:40 , 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	chr17:63186600-63190200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:63186800-63190200	Enhancers	A549	lung
12	chr17:63187000-63190200	Enhancers	HMEC	breast
13	chr17:63187000-63194800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr17:63187200-63190400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:63187200-63190400	Enhancers	HSMM	muscle
16	chr17:63187200-63192000	Weak transcription	Brain Anterior Caudate	brain
17	chr17:63187400-63191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:63187800-63190000	Enhancers	Osteobl	bone
19	chr17:63187800-63190600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:63188000-63190400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:63188200-63191600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr17:63188200-63191800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:63188200-63192200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:63188400-63191200	Enhancers	Liver	Liver
25	chr17:63188600-63190400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr17:63188600-63192800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:63188600-63193200	Weak transcription	GM12878-XiMat	blood
28	chr17:63188600-63197200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:63188800-63190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:63188800-63191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:63189000-63190600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:63189000-63198000	Weak transcription	HUVEC	blood vessel
33	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:63189400-63190400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:63189400-63190400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr17:63189600-63190200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:63189600-63190400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:63189600-63190400	Flanking Active TSS	HSMMtube	muscle
39	chr17:63189600-63191200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:63189800-63190200	Bivalent Enhancer	HepG2	liver

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