Variant report

Variant	rs7647567
Chromosome Location	chr3:53229864-53229865
allele	A/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53168443..53169334-chr3:53229545..53230512,6	MCF-7	breast:
2	chr3:53147149..53149237-chr3:53228020..53230160,2	K562	blood:
3	chr3:53147149..53149280-chr3:53227312..53230160,3	K562	blood:
4	chr3:53162914..53166776-chr3:53227642..53231042,4	MCF-7	breast:
5	chr3:53154170..53157066-chr3:53227293..53230182,2	MCF-7	breast:
6	chr3:53221130..53223624-chr3:53229267..53231736,2	MCF-7	breast:
7	chr3:53229351..53232128-chr3:53235602..53237855,2	MCF-7	breast:
8	chr3:53229084..53231520-chr3:53924374..53926041,2	K562	blood:
9	chr3:53197949..53201671-chr3:53227603..53230780,3	MCF-7	breast:
10	chr3:52885118..52885921-chr3:53229833..53230615,2	MCF-7	breast:
11	chr3:53161890..53164661-chr3:53229733..53232453,3	MCF-7	breast:
12	chr3:53147634..53148660-chr3:53229191..53230888,15	K562	blood:
13	chr3:53155385..53158103-chr3:53228552..53231241,3	K562	blood:
14	chr3:53168393..53169379-chr3:53229728..53230708,4	MCF-7	breast:
15	chr3:53149564..53151177-chr3:53228526..53230343,2	K562	blood:
16	chr3:53192673..53196741-chr3:53226099..53230036,6	MCF-7	breast:
17	chr3:53228679..53231516-chr3:53231872..53234028,2	K562	blood:
18	chr3:53147650..53148675-chr3:53229707..53230554,5	MCF-7	breast:
19	chr3:53147705..53149046-chr3:53229640..53231117,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction
ENSG00000113811	Chromatin interaction
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11714704	1.00[AMR][1000 genomes]
rs11718387	1.00[AMR][1000 genomes]
rs2059966	1.00[AMR][1000 genomes]
rs4234641	1.00[AMR][1000 genomes]
rs4687702	1.00[AMR][1000 genomes]
rs6445561	1.00[AMR][1000 genomes]
rs6445562	1.00[AMR][1000 genomes]
rs7626998	1.00[AMR][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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53220000-53230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:53224600-53230800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:53225200-53230200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:53226000-53230000	Genic enhancers	Spleen	Spleen
5	chr3:53226200-53230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:53226800-53231000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr3:53227600-53230000	Enhancers	Right Ventricle	heart
8	chr3:53227600-53231000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:53227800-53230200	Enhancers	NHLF	lung
10	chr3:53227800-53231400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:53228000-53230000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:53228000-53230200	Enhancers	HUVEC	blood vessel
13	chr3:53228200-53230400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:53228200-53230400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr3:53228400-53230000	Weak transcription	Thymus	Thymus
16	chr3:53228400-53230200	Weak transcription	NHEK	skin
17	chr3:53228400-53231200	Enhancers	Adipose Nuclei	Adipose
18	chr3:53228600-53230400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:53228600-53231000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr3:53228600-53232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:53228800-53230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:53228800-53230800	Weak transcription	Stomach Mucosa	stomach
23	chr3:53228800-53232400	Weak transcription	Fetal Heart	heart
24	chr3:53229000-53230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:53229000-53231200	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:53229000-53270000	Weak transcription	Right Atrium	heart
27	chr3:53229200-53230000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:53229200-53231000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:53229400-53230200	Active TSS	Colonic Mucosa	Colon
30	chr3:53229400-53230200	Enhancers	GM12878-XiMat	blood
31	chr3:53229400-53231200	Enhancers	HMEC	breast
32	chr3:53229600-53230000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr3:53229600-53230000	Enhancers	Brain Cingulate Gyrus	brain
34	chr3:53229600-53230000	Enhancers	Brain Hippocampus Middle	brain
35	chr3:53229600-53230000	Enhancers	Left Ventricle	heart
36	chr3:53229600-53230000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:53229600-53230200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:53229600-53230200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:53229600-53230200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr3:53229600-53230200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:53229600-53230200	Enhancers	Colon Smooth Muscle	Colon
42	chr3:53229600-53230200	Enhancers	Ovary	ovary
43	chr3:53229600-53230200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr3:53229600-53230600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr3:53229600-53230800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr3:53229600-53231000	Enhancers	Primary B cells from cord blood	blood
47	chr3:53229600-53231000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr3:53229600-53231000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:53229600-53231000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:53229600-53231000	Enhancers	Muscle Satellite Cultured Cells	--

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