Variant report

Variant	rs9472503
Chromosome Location	chr6:45522157-45522158
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45519041..45522740-chr6:45522801..45525463,3	MCF-7	breast:
2	chr6:45521508..45523893-chr6:45680263..45683412,3	MCF-7	breast:
3	chr6:45514521..45516700-chr6:45519579..45523207,3	MCF-7	breast:
4	chr6:45517438..45520580-chr6:45520902..45524408,4	MCF-7	breast:
5	chr6:45521600..45524007-chr6:45539938..45542034,2	MCF-7	breast:
6	chr6:45388475..45392653-chr6:45521512..45524033,4	MCF-7	breast:
7	chr6:45345547..45347304-chr6:45521269..45524195,2	MCF-7	breast:
8	chr6:45521858..45524563-chr6:45528701..45531108,3	MCF-7	breast:
9	chr6:45521062..45522747-chr6:45524709..45527300,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9463094	0.81[EUR][1000 genomes]
rs9463095	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs9472501	0.94[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1019561	chr6:45485826-45535222	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv538214	chr6:45485826-45535222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv491939	chr6:45508319-45526327	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3325637	chr6:45519674-45523972	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45506800-45523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:45508200-45530600	Weak transcription	Psoas Muscle	Psoas
3	chr6:45508600-45522400	Weak transcription	Fetal Thymus	thymus
4	chr6:45508800-45523400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:45512000-45524000	Weak transcription	NHEK	skin
6	chr6:45512400-45523400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:45512400-45523400	Weak transcription	HMEC	breast
8	chr6:45515400-45522400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:45515400-45523400	Weak transcription	HSMMtube	muscle
10	chr6:45515800-45522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:45517000-45526000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:45517200-45522400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:45517200-45524600	Weak transcription	Placenta	Placenta
14	chr6:45517200-45524600	Weak transcription	Spleen	Spleen
15	chr6:45517400-45523400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:45518800-45523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:45519600-45532400	Weak transcription	Right Atrium	heart
18	chr6:45520600-45523800	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:45520800-45523400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:45520800-45524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:45521200-45522800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:45521400-45523200	Weak transcription	Fetal Stomach	stomach
23	chr6:45521600-45522200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:45521600-45522200	Flanking Active TSS	Fetal Lung	lung
25	chr6:45521600-45522200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr6:45521600-45522600	Enhancers	Primary T cells from cord blood	blood
27	chr6:45521600-45522600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:45521600-45522800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:45521600-45523200	Enhancers	NHDF-Ad	bronchial
30	chr6:45521600-45523200	Enhancers	NHLF	lung
31	chr6:45521600-45523400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:45521600-45523400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:45521600-45523400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:45521600-45523400	Enhancers	Osteobl	bone
35	chr6:45521800-45522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:45521800-45522200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:45521800-45522200	Enhancers	Ovary	ovary
38	chr6:45521800-45522600	Enhancers	Primary hematopoietic stem cells	blood
39	chr6:45521800-45522600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:45521800-45522600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:45521800-45522800	Enhancers	Hela-S3	cervix
42	chr6:45521800-45523400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:45521800-45523600	Enhancers	NH-A	brain
44	chr6:45522000-45522200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:45522000-45522200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:45522000-45522400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:45522000-45522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:45522000-45523000	Weak transcription	HSMM	muscle
49	chr6:45522000-45523200	Enhancers	Fetal Kidney	kidney
50	chr6:45522000-45523400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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