Variant report

Variant	rs7540597
Chromosome Location	chr1:213310279-213310280
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	chr1:213297745..213301905-chr1:213305900..213310308,6	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2817975	1.00[AMR][1000 genomes]
rs2841432	1.00[AMR][1000 genomes]
rs2841437	1.00[AMR][1000 genomes]
rs2936009	1.00[AMR][1000 genomes]
rs3010781	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv508692	chr1:213309036-213330907	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
2	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
4	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
6	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
8	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:213301000-213374800	Weak transcription	HSMM	muscle
15	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
16	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:213301800-213313000	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:213306000-213311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:213308400-213310400	Enhancers	Ovary	ovary
25	chr1:213308400-213311400	Weak transcription	Liver	Liver
26	chr1:213308800-213311200	Weak transcription	Thymus	Thymus
27	chr1:213308800-213313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:213309200-213310400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:213309200-213310400	Genic enhancers	K562	blood
30	chr1:213309200-213312200	Enhancers	HepG2	liver
31	chr1:213309600-213310400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:213309600-213310400	Enhancers	Fetal Intestine Large	intestine
33	chr1:213309600-213310400	Enhancers	Gastric	stomach
34	chr1:213309600-213310400	Enhancers	Stomach Mucosa	stomach
35	chr1:213309600-213311600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:213309600-213312000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:213309600-213315600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:213309600-213329000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:213309800-213311000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:213309800-213311200	Weak transcription	Brain Substantia Nigra	brain
42	chr1:213309800-213311400	Weak transcription	HSMMtube	muscle
43	chr1:213309800-213311400	Weak transcription	Osteobl	bone
44	chr1:213309800-213311600	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:213309800-213311600	Weak transcription	NH-A	brain
46	chr1:213309800-213311800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:213309800-213311800	Weak transcription	NHDF-Ad	bronchial
48	chr1:213309800-213312600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:213309800-213313200	Weak transcription	Fetal Heart	heart
50	chr1:213309800-213313600	Weak transcription	Psoas Muscle	Psoas

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