Variant report

Variant	rs544751706
Chromosome Location	chr1:213386614-213386615
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv826598	chr1:213378117-213387293	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
4	esv275574	chr1:213382672-213393600	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
5	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
3	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
4	chr1:213345600-213404600	Weak transcription	Osteobl	bone
5	chr1:213346200-213387400	Weak transcription	Gastric	stomach
6	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:213368200-213387200	Weak transcription	Lung	lung
10	chr1:213369600-213388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:213369800-213398200	Weak transcription	Fetal Heart	heart
12	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:213371000-213389400	Weak transcription	Right Ventricle	heart
14	chr1:213371800-213387200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:213371800-213388800	Weak transcription	HepG2	liver
16	chr1:213371800-213390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:213372000-213389800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:213372000-213393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:213372000-213405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:213372600-213390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:213372800-213387200	Weak transcription	Liver	Liver
23	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:213373000-213398000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:213373000-213405200	Weak transcription	Left Ventricle	heart
26	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:213373200-213405000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:213375200-213390400	Weak transcription	HSMMtube	muscle
31	chr1:213375400-213388600	Weak transcription	HMEC	breast
32	chr1:213375800-213405200	Weak transcription	Psoas Muscle	Psoas
33	chr1:213375800-213405200	Weak transcription	HSMM	muscle
34	chr1:213376000-213387200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:213376000-213387200	Weak transcription	Esophagus	oesophagus
36	chr1:213376000-213387200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:213376000-213387200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:213376200-213387200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:213376400-213390600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:213376600-213387200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:213376800-213391800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:213376800-213414200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:213377800-213387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:213377800-213389800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:213378800-213387000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:213378800-213387200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:213378800-213388600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:213378800-213405200	Weak transcription	K562	blood
49	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
50	chr1:213379000-213405200	Weak transcription	Stomach Smooth Muscle	stomach

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