Variant report

Variant	rs530296813
Chromosome Location	chr8:125692440-125692441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125654082..125656755-chr8:125691015..125693469,2	MCF-7	breast:
2	chr8:125685458..125688128-chr8:125691791..125694776,4	K562	blood:
3	chr8:125691541..125693410-chr8:125699337..125702160,2	K562	blood:
4	chr8:125550176..125552813-chr8:125691771..125693317,2	K562	blood:

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125681200-125701000	Weak transcription	HMEC	breast
4	chr8:125685800-125694600	Weak transcription	Gastric	stomach
5	chr8:125686200-125693000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125686200-125694400	Weak transcription	Pancreas	Pancrea
7	chr8:125686200-125694600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:125686200-125695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:125686200-125695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:125686200-125696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:125686200-125697600	Weak transcription	HUVEC	blood vessel
12	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:125686400-125694400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:125686400-125694400	Weak transcription	Esophagus	oesophagus
15	chr8:125686400-125694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:125686800-125692600	Weak transcription	Placenta	Placenta
20	chr8:125686800-125692800	Weak transcription	Adipose Nuclei	Adipose
21	chr8:125686800-125694200	Weak transcription	Fetal Brain Female	brain
22	chr8:125686800-125694400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:125686800-125694600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:125687000-125694400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:125687400-125694400	Weak transcription	Lung	lung
27	chr8:125687600-125694400	Weak transcription	Fetal Thymus	thymus
28	chr8:125687600-125699200	Weak transcription	Fetal Intestine Small	intestine
29	chr8:125687800-125694600	Weak transcription	Spleen	Spleen
30	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:125689200-125693800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:125689600-125694400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:125689600-125694400	Weak transcription	Fetal Lung	lung
34	chr8:125689800-125694600	Weak transcription	Fetal Stomach	stomach
35	chr8:125690000-125692600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:125690000-125692600	Weak transcription	Brain Substantia Nigra	brain
37	chr8:125690000-125692800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:125690000-125693200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:125690400-125692600	Weak transcription	Brain Germinal Matrix	brain
40	chr8:125690400-125693400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:125690400-125694400	Weak transcription	Brain Angular Gyrus	brain
42	chr8:125690400-125694800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:125690400-125694800	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:125690400-125696600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:125690600-125693000	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:125690800-125693200	Enhancers	Left Ventricle	heart
47	chr8:125691200-125693400	Weak transcription	Fetal Brain Male	brain
48	chr8:125691200-125694200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:125691400-125693000	Weak transcription	Liver	Liver
50	chr8:125691400-125694200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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