Variant report

Variant	rs74906531
Chromosome Location	chr1:213316111-213316112
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213306346..213308829-chr1:213315366..213317859,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
3	esv14011	chr1:213314571-213320124	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1825966	chr1:213316089-213319599	Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1827995	chr1:213316089-213319599	Strong transcription ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1831424	chr1:213316089-213319599	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1832704	chr1:213316089-213319599	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv549178	chr1:213316089-213319599	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1830404	chr1:213316089-213320011	Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1830707	chr1:213316089-213320011	Strong transcription Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1830896	chr1:213316089-213320011	Strong transcription Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1832653	chr1:213316089-213320011	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
2	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
4	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
6	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:213301000-213374800	Weak transcription	HSMM	muscle
11	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:213309600-213329000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:213309800-213317000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:213309800-213317200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:213309800-213319600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:213310000-213317200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:213310000-213345800	Weak transcription	Lung	lung
23	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:213310400-213317200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:213310400-213317600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:213310400-213333600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:213310400-213345800	Weak transcription	Ovary	ovary
28	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
29	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:213312200-213343600	Weak transcription	HepG2	liver
31	chr1:213312400-213322200	Weak transcription	Fetal Lung	lung
32	chr1:213312400-213336000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:213312600-213326800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:213312600-213327400	Weak transcription	K562	blood
35	chr1:213313000-213320600	Weak transcription	NHDF-Ad	bronchial
36	chr1:213313000-213320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:213313400-213322200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:213313800-213336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:213314000-213320200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:213314600-213317400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:213314600-213319200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:213314800-213317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:213315800-213316400	Strong transcription	NH-A	brain
44	chr1:213315800-213317200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:213316000-213317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:213316000-213340000	Weak transcription	Psoas Muscle	Psoas

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