Variant report

Variant	rs545947033
Chromosome Location	chr8:130907731-130907732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130880795..130883192-chr8:130906423..130908284,2	K562	blood:

Variant related genes	Relation type
ENSG00000200075	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3356432	chr8:130906870-130908068	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
3	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:130899000-130912000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:130899400-130907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:130899600-130908000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:130899600-130908600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:130899600-130908800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:130899600-130909600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:130899800-130909200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:130899800-130913400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:130899800-130915800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:130900000-130910600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:130900000-130911800	Weak transcription	Dnd41	blood
16	chr8:130900000-130914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:130900000-130922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:130900400-130910400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:130900600-130912200	Weak transcription	Thymus	Thymus
22	chr8:130900600-130922000	Weak transcription	Esophagus	oesophagus
23	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:130900800-130910800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:130900800-130922000	Weak transcription	Gastric	stomach
26	chr8:130901000-130908600	Weak transcription	HUVEC	blood vessel
27	chr8:130901000-130912000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:130901000-130922000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:130901000-130922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:130901000-130922800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:130901000-130924600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:130901000-130924600	Weak transcription	K562	blood
33	chr8:130901000-130929200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:130901200-130912000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:130901400-130908800	Weak transcription	Fetal Thymus	thymus
37	chr8:130901600-130912600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:130901800-130912000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:130902000-130912000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:130902600-130921800	Weak transcription	Adipose Nuclei	Adipose
41	chr8:130903200-130916800	Weak transcription	Fetal Intestine Large	intestine
42	chr8:130903400-130908800	Weak transcription	Psoas Muscle	Psoas
43	chr8:130903400-130911200	Weak transcription	Left Ventricle	heart
44	chr8:130903800-130922000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:130904000-130930200	Weak transcription	Hela-S3	cervix
46	chr8:130904000-130950600	Weak transcription	HSMM	muscle
47	chr8:130904400-130908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:130904400-130911800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:130904400-130928600	Weak transcription	Brain Anterior Caudate	brain
50	chr8:130904600-130908600	Weak transcription	NHEK	skin

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