Variant report

Variant	rs148907011
Chromosome Location	chr1:183956633-183956634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183948339..183950247-chr1:183954738..183957083,2	K562	blood:
2	chr1:183955994..183963438-chr1:184018687..184025701,10	K562	blood:
3	chr1:183955480..183958472-chr1:184655445..184658160,2	K562	blood:
4	chr1:183954395..183958643-chr1:183998431..184003306,4	K562	blood:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832026	chr1:183785065-183961847	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183923200-183961000	Weak transcription	Pancreas	Pancrea
3	chr1:183952000-183958800	Enhancers	NHDF-Ad	bronchial
4	chr1:183953000-183959000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:183953000-183965200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:183953200-183957400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:183953600-183957600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:183953800-183965200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:183954000-183958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:183954000-183965600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:183954400-183956800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:183954800-183956800	Enhancers	K562	blood
13	chr1:183955000-183956800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:183955000-183959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:183955000-183971200	Weak transcription	Right Atrium	heart
16	chr1:183955200-183958800	Weak transcription	HepG2	liver
17	chr1:183955600-183958800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:183955800-183958800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:183955800-183959000	Enhancers	HSMM	muscle
20	chr1:183956000-183956800	Enhancers	Fetal Heart	heart
21	chr1:183956000-183956800	Enhancers	HSMMtube	muscle
22	chr1:183956000-183958800	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:183956000-183958800	Enhancers	NHLF	lung
24	chr1:183956000-183959600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:183956200-183958600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:183956200-183958800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:183956400-183958400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:183956400-183958600	Enhancers	Brain Hippocampus Middle	brain
29	chr1:183956400-183958800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:183956400-183958800	Enhancers	Brain Angular Gyrus	brain
31	chr1:183956400-183958800	Enhancers	Osteobl	bone
32	chr1:183956600-183958400	Weak transcription	NH-A	brain
33	chr1:183956600-183958600	Enhancers	Brain Anterior Caudate	brain

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