Variant report

Variant	rs562535069
Chromosome Location	chr8:124172974-124172975
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124172170..124173373-chr8:124203108..124203740,5	MCF-7	breast:
2	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
3	chr8:124171651..124174347-chr8:124191271..124192791,2	MCF-7	breast:
4	chr3:64674543..64675446-chr8:124172470..124173272,2	MCF-7	breast:
5	chr8:124172763..124173313-chr8:124193922..124194776,2	MCF-7	breast:
6	chr8:124172440..124173389-chr8:124775729..124776620,2	MCF-7	breast:
7	chr8:123685508..123686390-chr8:124172412..124173006,2	MCF-7	breast:
8	chr8:124053032..124054921-chr8:124170087..124173006,2	K562	blood:
9	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
10	chr8:124172665..124173321-chr8:124204596..124205175,2	MCF-7	breast:
11	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
12	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
13	chr8:124172234..124173328-chr8:124232518..124233542,12	MCF-7	breast:
14	chr8:124172180..124173617-chr8:124232329..124233727,43	MCF-7	breast:
15	chr8:124171432..124174128-chr8:124286899..124289260,2	MCF-7	breast:
16	chr8:124171361..124173486-chr8:124193492..124195637,4	MCF-7	breast:
17	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
18	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
19	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
20	chr8:124172226..124173291-chr8:124203205..124204142,6	MCF-7	breast:
21	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
22	chr10:62506708..62507282-chr8:124172451..124173316,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165156	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000253410	Chromatin interaction
ENSG00000221461	Chromatin interaction
ENSG00000147689	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	chr8:124171000-124173000	Weak transcription	Small Intestine	intestine
3	chr8:124172400-124173200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:124172400-124173200	Active TSS	Brain Hippocampus Middle	brain
5	chr8:124172400-124173400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124172400-124173400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:124172400-124173400	Flanking Active TSS	Hela-S3	cervix
8	chr8:124172400-124173400	Flanking Active TSS	NHEK	skin
9	chr8:124172400-124173600	Enhancers	Fetal Brain Male	brain
10	chr8:124172400-124174000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:124172400-124174000	Active TSS	Brain Anterior Caudate	brain
12	chr8:124172600-124173000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124172600-124173000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:124172600-124173000	Active TSS	Esophagus	oesophagus
15	chr8:124172600-124173200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:124172600-124173200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr8:124172600-124173200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:124172600-124173200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:124172600-124173200	Active TSS	A549	lung
20	chr8:124172600-124173200	Flanking Bivalent TSS/Enh	Dnd41	blood
21	chr8:124172600-124173200	Active TSS	NH-A	brain
22	chr8:124172600-124173400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:124172600-124173400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:124172600-124173400	Active TSS	Fetal Intestine Large	intestine
25	chr8:124172600-124173400	Flanking Active TSS	HMEC	breast
26	chr8:124172600-124173400	Active TSS	HSMM	muscle
27	chr8:124172600-124173600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr8:124172600-124173600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:124172600-124173600	Active TSS	Colon Smooth Muscle	Colon
30	chr8:124172600-124173800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:124172600-124173800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:124172600-124173800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:124172600-124173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:124172600-124173800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr8:124172600-124173800	Active TSS	Primary T cells from cord blood	blood
36	chr8:124172600-124173800	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:124172600-124173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:124172600-124173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:124172600-124173800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr8:124172600-124173800	Active TSS	Brain Angular Gyrus	brain
41	chr8:124172600-124173800	Active TSS	Brain Cingulate Gyrus	brain
42	chr8:124172600-124173800	Active TSS	Brain Germinal Matrix	brain
43	chr8:124172600-124173800	Active TSS	Fetal Brain Female	brain
44	chr8:124172600-124173800	Active TSS	Fetal Kidney	kidney
45	chr8:124172600-124173800	Active TSS	Right Atrium	heart
46	chr8:124172600-124173800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:124172600-124173800	Active TSS	Thymus	Thymus
48	chr8:124172600-124174000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr8:124172600-124174000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr8:124172600-124174000	Active TSS	Duodenum Smooth Muscle	Duodenum

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