Variant report

Variant	rs548543345
Chromosome Location	chr6:64387724-64387725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr6:64387005-64387913	HepG2	liver:	n/a	n/a
2	FOXA2	chr6:64387162-64387811	A549	lung:	n/a	n/a
3	FOXA1	chr6:64387088-64387747	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:64387043-64387780	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:64375915..64378129-chr6:64385885..64387947,2	MCF-7	breast:
2	chr6:64280956..64283325-chr6:64386100..64388595,2	K562	blood:
3	chr6:64365652..64367564-chr6:64386875..64388430,2	K562	blood:
4	chr6:64386744..64388275-chr6:64400257..64402696,2	K562	blood:

No data

Variant related genes	Relation type
PHF3	TF binding region
ENSG00000266680	Chromatin interaction
ENSG00000112245	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	nsv830674	chr6:64355412-64535801	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022376	chr6:64386826-64445195	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64347000-64422400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:64351200-64405000	Weak transcription	Thymus	Thymus
3	chr6:64354000-64421200	Weak transcription	Gastric	stomach
4	chr6:64357800-64393400	Weak transcription	Placenta	Placenta
5	chr6:64365800-64409400	Weak transcription	Fetal Stomach	stomach
6	chr6:64370800-64395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:64370800-64413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:64371000-64394200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:64371000-64409000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:64373800-64394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:64373800-64394600	Weak transcription	HSMMtube	muscle
12	chr6:64373800-64394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:64374000-64391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:64374200-64393400	Weak transcription	HSMM	muscle
15	chr6:64374200-64394000	Weak transcription	NH-A	brain
16	chr6:64374200-64394200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:64374200-64405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:64374200-64414600	Weak transcription	HMEC	breast
19	chr6:64374400-64388800	Weak transcription	K562	blood
20	chr6:64375600-64409000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:64375800-64388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:64377000-64394000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:64379200-64388800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:64380600-64389400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:64381200-64394200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:64381400-64405200	Weak transcription	Brain Germinal Matrix	brain
27	chr6:64381600-64389800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:64383200-64389000	Enhancers	Liver	Liver
29	chr6:64383200-64389200	Weak transcription	GM12878-XiMat	blood
30	chr6:64383200-64390000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:64383400-64390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:64383400-64394000	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:64383600-64387800	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:64383800-64387800	Enhancers	HepG2	liver
35	chr6:64383800-64388800	Weak transcription	Fetal Thymus	thymus
36	chr6:64383800-64388800	Weak transcription	Dnd41	blood
37	chr6:64383800-64389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:64383800-64389000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:64383800-64389400	Weak transcription	Primary B cells from cord blood	blood
40	chr6:64383800-64394000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:64384000-64389000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:64384000-64389200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr6:64384600-64387800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:64384600-64387800	Enhancers	Adipose Nuclei	Adipose
45	chr6:64384600-64387800	Enhancers	A549	lung
46	chr6:64384600-64389200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:64384600-64394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:64384600-64414400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:64385000-64388800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:64385000-64394000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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