Variant report

Variant	rs565569114
Chromosome Location	chr2:10586220-10586221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10583356-10586233	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:10585370-10586276	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:10586175-10586246	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:10585938-10586235	IMR90	lung:	n/a	n/a
5	CHD1	chr2:10585984-10586286	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	chr2:10582600-10586600	Weak transcription	Psoas Muscle	Psoas
7	chr2:10582600-10587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:10584600-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:10584800-10586400	Weak transcription	Colonic Mucosa	Colon
10	chr2:10584800-10586400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:10584800-10586400	Weak transcription	Small Intestine	intestine
12	chr2:10584800-10586600	Weak transcription	Aorta	Aorta
13	chr2:10584800-10586600	Weak transcription	NHLF	lung
14	chr2:10584800-10586800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:10584800-10587400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:10584800-10587400	Weak transcription	Pancreas	Pancrea
17	chr2:10585000-10586400	Weak transcription	Gastric	stomach
18	chr2:10585000-10586400	Weak transcription	Thymus	Thymus
19	chr2:10585000-10586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:10585000-10586600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:10585000-10586600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:10585000-10586600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:10585000-10586600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:10585000-10586800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:10585000-10586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:10585000-10586800	Weak transcription	Adipose Nuclei	Adipose
27	chr2:10585000-10587200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:10585000-10587400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:10585000-10587400	Weak transcription	Ovary	ovary
30	chr2:10585000-10587400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:10585000-10587400	Weak transcription	Right Ventricle	heart
32	chr2:10585000-10587600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:10585000-10587600	Weak transcription	Esophagus	oesophagus
34	chr2:10585000-10587600	Transcr. at gene 5' and 3'	NHEK	skin
35	chr2:10585000-10587800	Weak transcription	Spleen	Spleen
36	chr2:10585200-10586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:10585200-10586400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:10585200-10586400	Enhancers	Fetal Muscle Leg	muscle
39	chr2:10585200-10586400	Weak transcription	Fetal Stomach	stomach
40	chr2:10585200-10586400	Weak transcription	Left Ventricle	heart
41	chr2:10585200-10586400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:10585200-10586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:10585200-10586600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:10585200-10586600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:10585200-10586600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:10585200-10586600	Weak transcription	NHDF-Ad	bronchial
47	chr2:10585200-10586800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:10585200-10586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:10585200-10586800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:10585200-10587000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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