Variant report

Variant	rs536390624
Chromosome Location	chr3:49980040-49980041
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	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
2	chr3:49977713..49979804-chr3:49979930..49983021,3	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction
ENSG00000164077	Chromatin interaction

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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978600-49980200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr3:49978600-49980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:49978600-49980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:49978600-49981200	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:49978600-49981800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:49978600-49983000	Weak transcription	Lung	lung
7	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
9	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
10	chr3:49978800-49980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:49978800-49980400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr3:49978800-49980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:49978800-49980600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:49978800-49980600	Enhancers	Adipose Nuclei	Adipose
15	chr3:49978800-49981200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:49978800-49981200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:49978800-49982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:49978800-49983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:49978800-49983400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:49978800-49985400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:49978800-49986800	Weak transcription	Stomach Mucosa	stomach
22	chr3:49978800-49987000	Weak transcription	Small Intestine	intestine
23	chr3:49978800-49987400	Weak transcription	Brain Anterior Caudate	brain
24	chr3:49978800-49987400	Weak transcription	K562	blood
25	chr3:49978800-49987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:49978800-49987600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:49978800-49987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:49978800-49987600	Weak transcription	A549	lung
29	chr3:49978800-49987600	Weak transcription	HUVEC	blood vessel
30	chr3:49978800-49987800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
35	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:49979000-49980200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:49979000-49980400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:49979000-49980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:49979000-49980400	Enhancers	HepG2	liver
40	chr3:49979000-49980800	Weak transcription	Fetal Stomach	stomach
41	chr3:49979000-49981200	Weak transcription	HSMM	muscle
42	chr3:49979000-49982800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:49979000-49982800	Weak transcription	Fetal Intestine Large	intestine
44	chr3:49979000-49982800	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:49979000-49983200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:49979000-49984800	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:49979000-49985800	Weak transcription	Esophagus	oesophagus
48	chr3:49979000-49986800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:49979000-49987000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:49979000-49987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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