Variant report

Variant	rs547472086
Chromosome Location	chr6:44009489-44009490
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44007005..44011149-chr6:44017197..44020435,5	MCF-7	breast:
2	chr6:44007443..44009968-chr6:44021480..44024276,2	MCF-7	breast:
3	chr6:43603690..43605360-chr6:44009422..44011771,2	K562	blood:
4	chr6:44008736..44011272-chr6:44028174..44029851,2	MCF-7	breast:
5	chr6:44000324..44004665-chr6:44006537..44011128,6	K562	blood:
6	chr6:43951956..43954064-chr6:44008799..44011595,2	K562	blood:
7	chr6:44007038..44009645-chr6:44014380..44015975,2	MCF-7	breast:
8	chr6:43991580..43993186-chr6:44007250..44009917,2	K562	blood:
9	chr6:44008682..44009563-chr9:77643117..77643955,2	Hela-S3	cervix:
10	chr6:44009300..44010942-chr6:44014592..44016853,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156017	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	esv19546	chr6:44008476-44011596	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43979400-44010400	Weak transcription	Pancreas	Pancrea
2	chr6:44002400-44010200	Weak transcription	Right Ventricle	heart
3	chr6:44004200-44013200	Weak transcription	Lung	lung
4	chr6:44005800-44011600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:44005800-44036800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:44006000-44011600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:44006200-44012400	Enhancers	HMEC	breast
8	chr6:44006400-44011800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:44006400-44012400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:44006600-44011600	Enhancers	NHEK	skin
11	chr6:44006600-44012400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:44006800-44012000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:44006800-44012000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:44006800-44012200	Enhancers	Fetal Muscle Trunk	muscle
15	chr6:44006800-44015400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:44007000-44009600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:44007400-44009600	Enhancers	HSMM	muscle
18	chr6:44007800-44009600	Enhancers	NHLF	lung
19	chr6:44007800-44012200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:44007800-44012400	Enhancers	Fetal Stomach	stomach
21	chr6:44008000-44011400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:44008000-44012200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:44008000-44012200	Enhancers	Fetal Muscle Leg	muscle
24	chr6:44008000-44012600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:44008200-44010000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:44008200-44011600	Enhancers	HUVEC	blood vessel
27	chr6:44008200-44012200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:44008200-44012400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44008200-44012400	Enhancers	NHDF-Ad	bronchial
30	chr6:44008200-44013400	Enhancers	Brain Anterior Caudate	brain
31	chr6:44008400-44009600	Weak transcription	Brain Angular Gyrus	brain
32	chr6:44008400-44009800	Enhancers	Osteobl	bone
33	chr6:44008400-44011400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:44008400-44012200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:44008400-44015200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:44008600-44011000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:44008600-44011200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:44008600-44011400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr6:44008600-44011800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:44008600-44012000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:44008600-44012400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:44008600-44013800	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:44008800-44009600	Bivalent Enhancer	HepG2	liver
44	chr6:44008800-44011000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:44009000-44009600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:44009000-44009600	Enhancers	Primary hematopoietic stem cells	blood
47	chr6:44009000-44009600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:44009000-44009800	Flanking Active TSS	A549	lung
49	chr6:44009000-44009800	Flanking Active TSS	K562	blood
50	chr6:44009000-44010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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