Variant report

Variant	rs62138451
Chromosome Location	chr2:47549304-47549305
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47399749..47405177-chr2:47548172..47550676,8	K562	blood:
2	chr2:47212569..47215623-chr2:47548901..47551029,3	K562	blood:
3	chr2:47426470..47429390-chr2:47547719..47550182,2	MCF-7	breast:
4	chr2:47213500..47216240-chr2:47548901..47552350,5	K562	blood:
5	chr2:47499653..47503286-chr2:47546650..47549919,4	MCF-7	breast:
6	chr2:47381119..47383658-chr2:47547730..47550127,2	MCF-7	breast:
7	chr2:47395267..47408439-chr2:47533772..47553038,55	MCF-7	breast:
8	chr2:47536098..47538713-chr2:47547950..47550505,2	MCF-7	breast:
9	chr2:47547112..47549558-chr2:47594942..47597072,2	MCF-7	breast:
10	chr2:47396560..47398144-chr2:47548528..47550389,2	K562	blood:
11	chr2:47214229..47214810-chr2:47548565..47549556,2	MCF-7	breast:
12	chr2:47400707..47405049-chr2:47548142..47553508,10	K562	blood:
13	chr2:47194294..47196907-chr2:47548954..47551761,2	MCF-7	breast:
14	chr2:47121666..47124880-chr2:47548236..47550482,3	MCF-7	breast:
15	chr2:47212912..47216047-chr2:47549012..47553411,7	MCF-7	breast:
16	chr2:47397795..47408487-chr2:47544823..47553969,26	MCF-7	breast:
17	chr2:47269944..47272346-chr2:47548303..47550473,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119888	Chromatin interaction
ENSG00000239605	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6734711	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv3378648	chr2:47546448-47549746	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47534400-47550400	Weak transcription	Ovary	ovary
2	chr2:47538400-47550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:47538400-47552600	Weak transcription	Fetal Brain Female	brain
4	chr2:47538600-47550200	Weak transcription	Fetal Lung	lung
5	chr2:47538800-47550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47538800-47550600	Weak transcription	Lung	lung
7	chr2:47539000-47550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:47541000-47550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:47541400-47550000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:47543000-47550000	Weak transcription	Colonic Mucosa	Colon
11	chr2:47543200-47563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:47543600-47549400	Weak transcription	Stomach Mucosa	stomach
13	chr2:47546400-47550800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:47546800-47549600	Enhancers	Brain Anterior Caudate	brain
15	chr2:47546800-47549600	Enhancers	Brain Hippocampus Middle	brain
16	chr2:47546800-47550000	Enhancers	Brain Substantia Nigra	brain
17	chr2:47546800-47550200	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:47546800-47550400	Enhancers	A549	lung
19	chr2:47546800-47551200	Enhancers	HepG2	liver
20	chr2:47547000-47549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:47547000-47550000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:47547000-47550200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:47547000-47550600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:47547400-47550000	Enhancers	Brain Angular Gyrus	brain
25	chr2:47547800-47550600	Enhancers	Fetal Intestine Large	intestine
26	chr2:47548000-47549400	Enhancers	Fetal Intestine Small	intestine
27	chr2:47548000-47550800	Enhancers	NHLF	lung
28	chr2:47548000-47551000	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:47548200-47549400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:47548200-47550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:47548200-47550800	Enhancers	Fetal Thymus	thymus
32	chr2:47548200-47551200	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:47548400-47550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:47548400-47550600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:47548600-47549600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:47548600-47549600	Enhancers	HSMM	muscle
37	chr2:47548600-47550800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:47548600-47550800	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:47548600-47551000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:47548800-47549400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:47548800-47549400	Enhancers	HSMMtube	muscle
42	chr2:47548800-47549600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:47548800-47550200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:47549000-47549600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:47549000-47550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:47549000-47550000	Weak transcription	Placenta	Placenta
47	chr2:47549000-47550000	Weak transcription	GM12878-XiMat	blood
48	chr2:47549000-47550200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:47549000-47550200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:47549000-47550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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