Variant report

Variant	rs62364384
Chromosome Location	chr5:95100569-95100570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95097267-95101364	K562	blood:	n/a	n/a
2	POLR2A	chr5:95097734-95104276	K562	blood:	n/a	n/a
3	POLR2A	chr5:95096918-95101378	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95088736..95091638-chr5:95098524..95101794,4	K562	blood:
2	chr5:95099158..95101884-chr5:95103798..95106272,2	MCF-7	breast:
3	chr5:95097640..95101240-chr5:95102630..95105938,3	K562	blood:
4	chr5:95065395..95069091-chr5:95095694..95100687,6	MCF-7	breast:
5	chr5:94980678..94986370-chr5:95094414..95102356,12	K562	blood:

No data

Variant related genes	Relation type
RHOBTB3	TF binding region
HSPD1P11	TF binding region
ENSG00000251348	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000250240	Chromatin interaction

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

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

rs_ID	r²[population]
rs11745143	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747129	1.00[AFR][1000 genomes]
rs72781496	1.00[ASN][1000 genomes]
rs72783499	1.00[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' 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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:95075200-95111800	Weak transcription	Psoas Muscle	Psoas
3	chr5:95083200-95122000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:95086800-95110800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:95088400-95105400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:95088600-95104800	Weak transcription	Fetal Brain Male	brain
8	chr5:95092200-95104600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:95095000-95102400	Weak transcription	Left Ventricle	heart
10	chr5:95095000-95104400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:95095000-95109000	Weak transcription	Esophagus	oesophagus
12	chr5:95095000-95115000	Weak transcription	Gastric	stomach
13	chr5:95095200-95103400	Weak transcription	Brain Germinal Matrix	brain
14	chr5:95095600-95108800	Weak transcription	Right Atrium	heart
15	chr5:95096200-95110200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:95096400-95103200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:95096400-95104400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:95096400-95125400	Weak transcription	Small Intestine	intestine
19	chr5:95096600-95104400	Weak transcription	Aorta	Aorta
20	chr5:95096600-95108800	Weak transcription	Right Ventricle	heart
21	chr5:95096600-95117000	Weak transcription	Brain Angular Gyrus	brain
22	chr5:95096600-95129800	Weak transcription	Colonic Mucosa	Colon
23	chr5:95096800-95101000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:95096800-95103200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:95096800-95104200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:95096800-95104600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:95096800-95115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:95097200-95105200	Strong transcription	Fetal Stomach	stomach
29	chr5:95097200-95108800	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:95097400-95106600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:95097800-95109000	Strong transcription	Fetal Intestine Large	intestine
32	chr5:95097800-95115000	Weak transcription	Spleen	Spleen
33	chr5:95098000-95100600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:95098000-95103200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:95098000-95104000	Weak transcription	Thymus	Thymus
36	chr5:95098000-95104400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:95098000-95104400	Weak transcription	Liver	Liver
38	chr5:95098000-95104400	Weak transcription	HepG2	liver
39	chr5:95098000-95106800	Weak transcription	NHEK	skin
40	chr5:95098000-95108400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:95098000-95108800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:95098200-95100600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:95098200-95101200	Strong transcription	Hela-S3	cervix
44	chr5:95098200-95103400	Weak transcription	Brain Anterior Caudate	brain
45	chr5:95098200-95104400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:95098200-95104400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:95098200-95105000	Weak transcription	Fetal Heart	heart
48	chr5:95098200-95106600	Weak transcription	Primary T cells from cord blood	blood
49	chr5:95098200-95106600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:95098200-95107000	Weak transcription	Placenta Amnion	Placenta Amnion

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