Variant report

Variant	rs191693437
Chromosome Location	chr8:63950703-63950704
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63937516..63940331-chr8:63949992..63952545,2	K562	blood:
2	chr8:63940680..63942601-chr8:63949219..63951590,2	MCF-7	breast:
3	chr8:62626734..62628934-chr8:63949908..63951935,2	K562	blood:
4	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
5	chr8:63925789..63928059-chr8:63949158..63951177,2	MCF-7	breast:
6	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:
7	chr8:63950192..63952306-chr8:64079468..64082451,3	K562	blood:
8	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251127	Chromatin interaction
ENSG00000137563	Chromatin interaction
ENSG00000137561	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000264408	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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3326059	chr8:63950223-63952971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:63945800-63950800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:63946000-63950800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:63949400-63951000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:63949600-63950800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:63949800-63950800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:63949800-63952600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:63950000-63950800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:63950000-63950800	Flanking Active TSS	Hela-S3	cervix
10	chr8:63950000-63951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:63950000-63951000	Weak transcription	Esophagus	oesophagus
12	chr8:63950000-63952000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:63950000-63952200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:63950000-63952400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:63950000-63952600	Active TSS	NHLF	lung
16	chr8:63950200-63950800	Flanking Active TSS	HUVEC	blood vessel
17	chr8:63950200-63951000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:63950200-63951000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:63950200-63951000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:63950200-63952000	Active TSS	HMEC	breast
21	chr8:63950200-63952200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:63950200-63952400	Active TSS	NHDF-Ad	bronchial
23	chr8:63950200-63952600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:63950200-63952800	Active TSS	K562	blood
25	chr8:63950400-63950800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:63950400-63950800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr8:63950400-63950800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:63950400-63951000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:63950400-63951000	Flanking Active TSS	Liver	Liver
30	chr8:63950400-63951000	Flanking Active TSS	Fetal Brain Male	brain
31	chr8:63950400-63951000	Flanking Active TSS	Fetal Heart	heart
32	chr8:63950400-63951000	Active TSS	HepG2	liver
33	chr8:63950400-63952000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:63950400-63952200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:63950400-63952200	Active TSS	Fetal Intestine Large	intestine
36	chr8:63950400-63952400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr8:63950400-63952400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:63950400-63952400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:63950400-63952400	Active TSS	Fetal Brain Female	brain
41	chr8:63950400-63952600	Active TSS	Brain Germinal Matrix	brain
42	chr8:63950600-63950800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr8:63950600-63950800	Enhancers	Primary B cells from cord blood	blood
44	chr8:63950600-63950800	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:63950600-63950800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:63950600-63950800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:63950600-63950800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:63950600-63950800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr8:63950600-63950800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:63950600-63950800	Active TSS	Duodenum Mucosa	Duodenum

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