Variant report

Variant	rs28362383
Chromosome Location	chr2:10585887-10585888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr2:10585308-10585899	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:10583356-10586233	GM12878	blood:	n/a	n/a
3	HEY1	chr2:10585864-10586188	K562	blood:	n/a	n/a
4	NFIC	chr2:10585221-10585967	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:10583084-10586162	Hela-S3	cervix:	n/a	n/a
6	NFIC	chr2:10585429-10585992	GM12878	blood:	n/a	n/a
7	ATF2	chr2:10585443-10585956	GM12878	blood:	n/a	n/a
8	MEF2A	chr2:10585373-10585969	GM12878	blood:	n/a	chr2:10585730-10585738 chr2:10585745-10585756 chr2:10585738-10585759 chr2:10585743-10585757 chr2:10585738-10585759
9	CEBPB	chr2:10585370-10586276	GM12878	blood:	n/a	n/a
10	MXI1	chr2:10585266-10585897	GM12878	blood:	n/a	n/a
11	IRF4	chr2:10585480-10585936	GM12878	blood:	n/a	n/a
12	ZNF384	chr2:10585473-10586094	GM12878	blood:	n/a	n/a
13	SPI1	chr2:10585440-10585969	GM12891	blood:	n/a	chr2:10585728-10585737
14	MEF2C	chr2:10585452-10585962	GM12878	blood:	n/a	chr2:10585730-10585738 chr2:10585745-10585756 chr2:10585741-10585756 chr2:10585738-10585759 chr2:10585743-10585757 chr2:10585738-10585759
15	POLR2A	chr2:10578415-10586213	GM12878	blood:	n/a	n/a
16	SPI1	chr2:10585400-10585928	GM12891	blood:	n/a	chr2:10585728-10585737
17	NFATC1	chr2:10585235-10585941	GM12878	blood:	n/a	n/a
18	FOXM1	chr2:10585328-10585887	GM12878	blood:	n/a	n/a
19	SPI1	chr2:10585091-10586217	GM12878	blood:	n/a	chr2:10585298-10585307 chr2:10585728-10585737

No.	Distal block	Cell Line	Cell type
1	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
2	chr2:10583289..10586276-chr2:10586900..10589856,4	MCF-7	breast:
3	chr2:10259839..10264771-chr2:10582056..10590038,19	K562	blood:
4	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
5	chr2:10583602..10586485-chr2:10613524..10616092,2	K562	blood:
6	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:
7	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
8	chr2:10441275..10444094-chr2:10585125..10586626,2	MCF-7	breast:
9	chr2:10257984..10265070-chr2:10582045..10589780,17	K562	blood:
10	chr2:10177980..10179820-chr2:10584164..10586131,2	K562	blood:

Variant related genes	Relation type
ENSG00000257135	TF binding region
ENSG00000206633	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10490729	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13401475	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1804032	1.00[ASN][1000 genomes]
rs28362406	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28362407	0.88[AFR][1000 genomes]
rs28362418	0.88[AFR][1000 genomes]
rs55955247	1.00[ASN][1000 genomes]
rs6738288	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1840383	chr2:10569021-10588903	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv873648	chr2:10584639-10599493	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	esv1819730	chr2:10585164-10591407	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	esv1818042	chr2:10585364-10591407	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	esv1840643	chr2:10585364-10607465	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv873649	chr2:10585458-10591628	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv873650	chr2:10585458-10597858	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv873651	chr2:10585575-10597858	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	esv1792409	chr2:10585687-10588600	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
15	esv1835530	chr2:10585687-10591407	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10573000-10587400	Weak transcription	Right Atrium	heart
2	chr2:10573800-10586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10577200-10587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10580000-10587400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10580000-10587400	Weak transcription	Stomach Mucosa	stomach
6	chr2:10580200-10586000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:10582000-10586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:10582600-10586600	Weak transcription	Psoas Muscle	Psoas
9	chr2:10582600-10587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:10584600-10586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:10584600-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:10584800-10586000	Genic enhancers	Dnd41	blood
13	chr2:10584800-10586000	Genic enhancers	Hela-S3	cervix
14	chr2:10584800-10586000	Genic enhancers	HSMM	muscle
15	chr2:10584800-10586400	Weak transcription	Colonic Mucosa	Colon
16	chr2:10584800-10586400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:10584800-10586400	Weak transcription	Small Intestine	intestine
18	chr2:10584800-10586600	Weak transcription	Aorta	Aorta
19	chr2:10584800-10586600	Weak transcription	NHLF	lung
20	chr2:10584800-10586800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:10584800-10587400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:10584800-10587400	Weak transcription	Pancreas	Pancrea
23	chr2:10585000-10586400	Weak transcription	Gastric	stomach
24	chr2:10585000-10586400	Weak transcription	Thymus	Thymus
25	chr2:10585000-10586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:10585000-10586600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:10585000-10586600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:10585000-10586600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:10585000-10586600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:10585000-10586800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:10585000-10586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:10585000-10586800	Weak transcription	Adipose Nuclei	Adipose
33	chr2:10585000-10587200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:10585000-10587400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:10585000-10587400	Weak transcription	Ovary	ovary
36	chr2:10585000-10587400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:10585000-10587400	Weak transcription	Right Ventricle	heart
38	chr2:10585000-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:10585000-10587600	Weak transcription	Esophagus	oesophagus
40	chr2:10585000-10587600	Transcr. at gene 5' and 3'	NHEK	skin
41	chr2:10585000-10587800	Weak transcription	Spleen	Spleen
42	chr2:10585200-10586000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:10585200-10586000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:10585200-10586000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:10585200-10586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:10585200-10586000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:10585200-10586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:10585200-10586200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
49	chr2:10585200-10586200	Weak transcription	HSMMtube	muscle
50	chr2:10585200-10586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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