Variant report

Variant	rs563282302
Chromosome Location	chr8:124173379-124173380
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
2	chr8:124171651..124174347-chr8:124191271..124192791,2	MCF-7	breast:
3	chr8:124172440..124173389-chr8:124775729..124776620,2	MCF-7	breast:
4	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
5	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
6	chr8:124172180..124173617-chr8:124232329..124233727,43	MCF-7	breast:
7	chr8:124171432..124174128-chr8:124286899..124289260,2	MCF-7	breast:
8	chr8:124171361..124173486-chr8:124193492..124195637,4	MCF-7	breast:
9	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
10	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
11	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
12	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253258	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000221461	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv521469	chr8:124172895-124177926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124170200-124173400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:124172400-124173400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:124172400-124173400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:124172400-124173400	Flanking Active TSS	Hela-S3	cervix
5	chr8:124172400-124173400	Flanking Active TSS	NHEK	skin
6	chr8:124172400-124173600	Enhancers	Fetal Brain Male	brain
7	chr8:124172400-124174000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:124172400-124174000	Active TSS	Brain Anterior Caudate	brain
9	chr8:124172600-124173400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:124172600-124173400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:124172600-124173400	Active TSS	Fetal Intestine Large	intestine
12	chr8:124172600-124173400	Flanking Active TSS	HMEC	breast
13	chr8:124172600-124173400	Active TSS	HSMM	muscle
14	chr8:124172600-124173600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:124172600-124173600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:124172600-124173600	Active TSS	Colon Smooth Muscle	Colon
17	chr8:124172600-124173800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:124172600-124173800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:124172600-124173800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:124172600-124173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:124172600-124173800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:124172600-124173800	Active TSS	Primary T cells from cord blood	blood
23	chr8:124172600-124173800	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:124172600-124173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:124172600-124173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:124172600-124173800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:124172600-124173800	Active TSS	Brain Angular Gyrus	brain
28	chr8:124172600-124173800	Active TSS	Brain Cingulate Gyrus	brain
29	chr8:124172600-124173800	Active TSS	Brain Germinal Matrix	brain
30	chr8:124172600-124173800	Active TSS	Fetal Brain Female	brain
31	chr8:124172600-124173800	Active TSS	Fetal Kidney	kidney
32	chr8:124172600-124173800	Active TSS	Right Atrium	heart
33	chr8:124172600-124173800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr8:124172600-124173800	Active TSS	Thymus	Thymus
35	chr8:124172600-124174000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:124172600-124174000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr8:124172600-124174000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr8:124172600-124174000	Active TSS	Osteobl	bone
39	chr8:124172800-124173400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:124172800-124173400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:124172800-124173400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:124172800-124173400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:124172800-124173400	Active TSS	Brain Substantia Nigra	brain
44	chr8:124172800-124173400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr8:124172800-124173400	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr8:124172800-124173400	Active TSS	Fetal Thymus	thymus
47	chr8:124172800-124173400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:124172800-124173600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:124172800-124173600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:124172800-124173600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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