Variant report

Variant	rs62290593
Chromosome Location	chr4:15639964-15639965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15639836..15641917-chr4:15654767..15657580,3	K562	blood:
2	chr4:15639542..15641253-chr4:15682901..15685078,2	MCF-7	breast:
3	chr4:15638821..15642037-chr4:15654372..15658464,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction
ENSG00000237765	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10001565	0.84[ASN][1000 genomes]
rs10516289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11723554	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11730336	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11735063	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643475	0.84[ASN][1000 genomes]
rs12650632	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17406128	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28532698	0.84[ASN][1000 genomes]
rs34910084	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301112	0.89[ASN][1000 genomes]
rs56089642	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62290586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62290595	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942212	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3464796	chr4:15638235-15640160	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3323553	chr4:15638237-15640097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3464798	chr4:15638286-15640135	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv292453	chr4:15638300-15640130	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3464799	chr4:15638300-15640133	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
7	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
9	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
20	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
22	chr4:15627600-15645600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:15627600-15646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:15627600-15650200	Weak transcription	Right Ventricle	heart
25	chr4:15628000-15640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:15628000-15655600	Weak transcription	Lung	lung
27	chr4:15628200-15645800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:15629600-15650400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:15631000-15640000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:15631200-15644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:15633400-15642000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:15633400-15643800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:15633400-15643800	Strong transcription	Fetal Intestine Large	intestine
34	chr4:15633600-15643400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:15633600-15643600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr4:15633600-15646400	Strong transcription	Fetal Thymus	thymus
37	chr4:15633800-15642400	Strong transcription	Liver	Liver
38	chr4:15634000-15642400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:15634000-15643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:15634000-15643800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:15634200-15644400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:15634600-15642600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr4:15634600-15642600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:15634600-15643400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:15634600-15643600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:15634600-15646600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr4:15634800-15643600	Strong transcription	Fetal Muscle Leg	muscle
48	chr4:15635000-15644000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:15635000-15644400	Strong transcription	Osteobl	bone
50	chr4:15635000-15647000	Strong transcription	HSMM	muscle

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