Variant report

Variant	rs147980386
Chromosome Location	chr1:150619649-150619650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150617651..150620563-chr1:150622833..150625095,2	K562	blood:
2	chr1:150551148..150553781-chr1:150617340..150620166,2	MCF-7	breast:
3	chr1:150597525..150603914-chr1:150613760..150620502,7	MCF-7	breast:
4	chr1:150613590..150615914-chr1:150618065..150619997,3	MCF-7	breast:
5	chr1:150602761..150604761-chr1:150618641..150620910,2	MCF-7	breast:
6	chr1:150613621..150615640-chr1:150617612..150620066,3	K562	blood:
7	chr1:150609201..150612049-chr1:150619557..150622336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143384	Chromatin interaction
ENSG00000143420	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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2427260	chr1:150618634-150620148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 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	chr1:150603200-150619800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:150603200-150620000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:150603200-150620000	Weak transcription	Gastric	stomach
4	chr1:150603200-150620000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:150603200-150620600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:150603200-150620600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:150603400-150620000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:150603400-150620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:150603400-150620600	Weak transcription	Right Ventricle	heart
11	chr1:150603400-150620600	Weak transcription	A549	lung
12	chr1:150603400-150620800	Weak transcription	Spleen	Spleen
13	chr1:150603400-150621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:150603400-150621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:150603600-150619800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:150604200-150620400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:150607400-150620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:150608600-150620600	Weak transcription	Hela-S3	cervix
20	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:150609200-150620200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:150611200-150620800	Weak transcription	Pancreas	Pancrea
23	chr1:150612600-150634400	Weak transcription	Psoas Muscle	Psoas
24	chr1:150614000-150619800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:150614000-150620000	Weak transcription	K562	blood
26	chr1:150614400-150620000	Weak transcription	HepG2	liver
27	chr1:150614400-150620400	Weak transcription	HSMM	muscle
28	chr1:150614600-150620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:150615000-150619800	Weak transcription	Esophagus	oesophagus
30	chr1:150615000-150620800	Weak transcription	NHDF-Ad	bronchial
31	chr1:150615000-150631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:150615800-150620400	Weak transcription	HSMMtube	muscle
33	chr1:150616200-150620000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:150616200-150620600	Weak transcription	NHEK	skin
35	chr1:150616200-150634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:150616400-150620400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:150616600-150620200	Weak transcription	Brain Angular Gyrus	brain
38	chr1:150616800-150622000	Strong transcription	Liver	Liver
39	chr1:150617000-150619800	Weak transcription	Fetal Brain Female	brain
40	chr1:150617400-150622000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr1:150617400-150623400	Strong transcription	Dnd41	blood
42	chr1:150617600-150622200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:150617600-150623200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:150617600-150623400	Strong transcription	Fetal Thymus	thymus
45	chr1:150617600-150623600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:150617600-150627600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:150617800-150619800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:150618000-150620000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:150618000-150620000	Weak transcription	HMEC	breast
50	chr1:150618000-150621600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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