Variant report

Variant	rs62345960
Chromosome Location	chr4:187766394-187766395
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187762414..187767903-chr4:187771825..187775014,7	K562	blood:
2	chr4:187644243..187647886-chr4:187765667..187770320,5	K562	blood:
3	chr4:187679251..187682200-chr4:187764092..187767213,3	K562	blood:
4	chr4:187764771..187768253-chr4:187793042..187796524,4	K562	blood:
5	chr4:187419874..187422872-chr4:187765170..187767723,2	K562	blood:
6	chr4:184365198..184366816-chr4:187765202..187767169,2	K562	blood:
7	chr4:187766368..187767880-chr4:187768124..187769704,2	K562	blood:
8	chr4:187765084..187768724-chr4:187798597..187801696,3	K562	blood:
9	chr4:187765345..187768109-chr4:187793611..187797439,3	K562	blood:
10	chr4:187765556..187770038-chr4:187777657..187782373,4	K562	blood:
11	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
12	chr4:187765177..187771006-chr4:187807000..187811310,9	K562	blood:
13	chr4:187765177..187768069-chr4:187809539..187811310,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212387	Chromatin interaction
ENSG00000251165	Chromatin interaction
ENSG00000252382	Chromatin interaction
ENSG00000083857	Chromatin interaction
ENSG00000168564	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10000282	1.00[ASN][1000 genomes]
rs10006400	1.00[ASN][1000 genomes]
rs10019663	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431930	1.00[ASN][1000 genomes]
rs1431933	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431937	1.00[ASN][1000 genomes]
rs1431938	1.00[ASN][1000 genomes]
rs1560547	1.00[ASN][1000 genomes]
rs1821137	1.00[ASN][1000 genomes]
rs2043204	1.00[ASN][1000 genomes]
rs2060139	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2375938	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322408	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322450	1.00[ASN][1000 genomes]
rs322455	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241835	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862739	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344821	1.00[ASN][1000 genomes]
rs62344826	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62345966	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62345967	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62345968	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814542	1.00[ASN][1000 genomes]
rs6821756	1.00[ASN][1000 genomes]
rs919649	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv596441	chr4:187695564-187786316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187762400-187766400	Weak transcription	Esophagus	oesophagus
2	chr4:187764400-187766800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:187764400-187767000	Flanking Active TSS	K562	blood
4	chr4:187764600-187766400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:187764600-187767000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:187764800-187767400	Enhancers	Fetal Intestine Large	intestine
7	chr4:187765000-187767200	Enhancers	Small Intestine	intestine
8	chr4:187765200-187766400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:187765200-187766600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:187765200-187766800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:187765200-187766800	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:187765200-187766800	Flanking Active TSS	NH-A	brain
13	chr4:187765200-187767000	Flanking Active TSS	Hela-S3	cervix
14	chr4:187765200-187767000	Flanking Active TSS	HUVEC	blood vessel
15	chr4:187765200-187767000	Flanking Active TSS	Osteobl	bone
16	chr4:187765200-187767200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:187765400-187766400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:187765400-187766400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:187765400-187766800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:187765400-187767400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:187765600-187766400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:187765600-187766400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:187765600-187766600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:187765600-187766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:187765600-187767200	Enhancers	Fetal Intestine Small	intestine
26	chr4:187765600-187769000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:187765800-187766400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:187765800-187766400	Flanking Active TSS	A549	lung
29	chr4:187765800-187766600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:187765800-187766600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:187765800-187766600	Enhancers	Colonic Mucosa	Colon
32	chr4:187765800-187766800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:187765800-187766800	Enhancers	Fetal Muscle Leg	muscle
34	chr4:187765800-187767000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:187765800-187767000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:187765800-187767000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:187765800-187767200	Enhancers	Stomach Mucosa	stomach
38	chr4:187766000-187766400	Enhancers	Adipose Nuclei	Adipose
39	chr4:187766000-187766600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:187766000-187766600	Enhancers	Fetal Lung	lung
41	chr4:187766000-187766600	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:187766000-187766800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:187766000-187766800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr4:187766000-187766800	Enhancers	Fetal Stomach	stomach
45	chr4:187766000-187766800	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:187766000-187767000	Enhancers	HSMM	muscle
47	chr4:187766000-187767000	Enhancers	HSMMtube	muscle
48	chr4:187766000-187767800	Enhancers	NHLF	lung
49	chr4:187766000-187768000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:187766000-187768200	Enhancers	HepG2	liver

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