Variant report

Variant	rs538443027
Chromosome Location	chr1:165603361-165603362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165598732..165600312-chr1:165601060..165603402,2	MCF-7	breast:
2	chr1:165601421..165603432-chr1:165737509..165739117,2	K562	blood:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548090	chr1:165602524-165604991	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv548091	chr1:165603289-165604124	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv548092	chr1:165603289-165604240	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165599200-165603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:165601400-165603800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:165601400-165604400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:165601600-165603400	Weak transcription	Gastric	stomach
5	chr1:165601600-165603600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:165601600-165603600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:165601600-165603600	Enhancers	Pancreas	Pancrea
8	chr1:165601600-165604400	Weak transcription	Primary T cells from cord blood	blood
9	chr1:165601600-165605800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:165601600-165608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:165601600-165615200	Weak transcription	Spleen	Spleen
12	chr1:165601800-165603400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:165601800-165603600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:165601800-165603600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:165601800-165603600	Enhancers	HSMM	muscle
16	chr1:165601800-165603800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:165601800-165607400	Enhancers	Brain Substantia Nigra	brain
18	chr1:165601800-165615200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:165602000-165603400	Enhancers	Stomach Mucosa	stomach
20	chr1:165602000-165603600	Enhancers	Hela-S3	cervix
21	chr1:165602000-165604200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:165602000-165604400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:165602000-165605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:165602000-165622800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:165602200-165603400	Enhancers	HUVEC	blood vessel
26	chr1:165602200-165603600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:165602200-165603600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:165602200-165603600	Enhancers	NHEK	skin
29	chr1:165602200-165603800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:165602200-165603800	Enhancers	Colon Smooth Muscle	Colon
31	chr1:165602200-165604000	Enhancers	K562	blood
32	chr1:165602200-165604000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr1:165602200-165604600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:165602200-165604600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:165602200-165604800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:165602200-165605000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:165602200-165605200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:165602200-165606000	Enhancers	Brain Anterior Caudate	brain
39	chr1:165602200-165624200	Weak transcription	Dnd41	blood
40	chr1:165602400-165603400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:165602400-165603600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:165602400-165603600	Enhancers	Fetal Muscle Leg	muscle
43	chr1:165602400-165603600	Enhancers	Placenta	Placenta
44	chr1:165602400-165603600	Enhancers	HMEC	breast
45	chr1:165602400-165603800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr1:165602400-165604000	Enhancers	Fetal Brain Female	brain
47	chr1:165602400-165604200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:165602400-165604600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:165602400-165604600	Enhancers	GM12878-XiMat	blood
50	chr1:165602400-165604800	Enhancers	HUES6 Cell Line	embryonic stem cell

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