Variant report

Variant	rs58786195
Chromosome Location	chr5:52399635-52399636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52398859..52401960-chr5:52403484..52405544,3	K562	blood:
2	chr5:52395948..52400374-chr5:52403348..52406711,5	MCF-7	breast:
3	chr5:52392231..52395065-chr5:52398498..52400912,2	K562	blood:
4	chr5:52399514..52401960-chr5:52403484..52405590,2	K562	blood:

Variant related genes	Relation type
ENSG00000164172	Chromatin interaction
ENSG00000247796	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12523395	0.87[ASN][1000 genomes]
rs3212574	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3212621	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3212627	0.87[EUR][1000 genomes];0.87[ASN][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
3	chr5:52372400-52404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:52387600-52405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:52389400-52404800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:52390200-52403800	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:52390600-52401200	Strong transcription	Dnd41	blood
9	chr5:52390800-52403800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:52391000-52401000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr5:52391000-52403000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:52391600-52403200	Weak transcription	Fetal Heart	heart
13	chr5:52392000-52404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:52392200-52400800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:52392200-52401200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:52392400-52400000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:52392400-52400400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:52392400-52401400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:52392400-52403000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:52392400-52403400	Strong transcription	Liver	Liver
21	chr5:52392400-52404800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:52392600-52400400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr5:52392800-52400200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:52392800-52400400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:52392800-52401000	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:52392800-52401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:52392800-52403000	Strong transcription	Adipose Nuclei	Adipose
28	chr5:52392800-52403400	Strong transcription	Left Ventricle	heart
29	chr5:52392800-52403600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:52393000-52405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:52393800-52404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:52394000-52400400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr5:52394200-52400000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:52394200-52400200	Strong transcription	Placenta	Placenta
35	chr5:52394200-52401000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:52394200-52401200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:52394600-52400000	Strong transcription	Fetal Intestine Large	intestine
38	chr5:52394600-52402400	Strong transcription	Primary T cells from cord blood	blood
39	chr5:52394600-52402600	Strong transcription	Fetal Thymus	thymus
40	chr5:52394800-52400000	Strong transcription	NHLF	lung
41	chr5:52394800-52403600	Strong transcription	Primary B cells from cord blood	blood
42	chr5:52395400-52402200	Weak transcription	A549	lung
43	chr5:52395400-52404800	Weak transcription	Aorta	Aorta
44	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:52395600-52403200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:52395600-52404400	Weak transcription	Thymus	Thymus
47	chr5:52395600-52404600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:52395600-52404800	Weak transcription	Colonic Mucosa	Colon
49	chr5:52395600-52404800	Weak transcription	Esophagus	oesophagus
50	chr5:52395600-52404800	Weak transcription	Fetal Brain Male	brain

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