Variant report

Variant	rs576995496
Chromosome Location	chr1:213309170-213309171
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:
2	chr1:213307189..213309993-chr1:213310511..213313013,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213309200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
3	chr1:213269600-213311800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:213271200-213309200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:213271600-213310200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:213281200-213309400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:213281400-213311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
10	chr1:213284600-213309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
13	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:213294000-213310000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:213297600-213309600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:213297600-213313600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:213297800-213309200	Weak transcription	Fetal Heart	heart
20	chr1:213297800-213309400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:213297800-213309600	Weak transcription	Gastric	stomach
22	chr1:213297800-213310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:213298200-213309400	Weak transcription	Psoas Muscle	Psoas
24	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:213301000-213374800	Weak transcription	HSMM	muscle
26	chr1:213301200-213309200	Weak transcription	K562	blood
27	chr1:213301200-213311800	Weak transcription	Fetal Lung	lung
28	chr1:213301400-213311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:213301800-213313000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:213303800-213309200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:213306000-213309200	Weak transcription	HepG2	liver
34	chr1:213306000-213311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:213306200-213309400	Weak transcription	HSMMtube	muscle
36	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:213306800-213309400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:213307600-213309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:213308000-213309600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:213308000-213309600	Enhancers	Brain Angular Gyrus	brain
43	chr1:213308000-213309800	Enhancers	Brain Substantia Nigra	brain
44	chr1:213308000-213310000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:213308200-213309600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:213308200-213309800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:213308200-213309800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:213308200-213309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:213308200-213309800	Enhancers	NHDF-Ad	bronchial
50	chr1:213308200-213309800	Enhancers	Osteobl	bone

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