Variant report

Variant	rs571484383
Chromosome Location	chr2:11622644-11622645
allele	G/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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11621457..11624787-chr2:11753040..11757547,4	MCF-7	breast:
2	chr2:11621665..11625691-chr2:11759993..11762950,4	MCF-7	breast:
3	chr2:11622300..11624024-chr2:11961134..11963850,2	MCF-7	breast:
4	chr2:11263419..11265242-chr2:11621241..11623957,2	MCF-7	breast:
5	chr2:11373517..11376626-chr2:11621500..11624054,4	MCF-7	breast:
6	chr2:11620780..11623645-chr2:11748441..11751021,2	MCF-7	breast:
7	chr2:11268656..11272146-chr2:11621524..11625212,4	MCF-7	breast:
8	chr2:11260073..11263283-chr2:11621139..11624937,6	MCF-7	breast:
9	chr17:77905046..77907139-chr2:11621088..11623747,2	MCF-7	breast:
10	chr2:11621397..11624240-chr2:11808602..11811433,2	MCF-7	breast:
11	chr17:56736452..56738278-chr2:11622249..11624597,2	MCF-7	breast:
12	chr17:59486452..59489829-chr2:11621116..11624500,4	MCF-7	breast:
13	chr2:11567153..11569270-chr2:11621893..11624749,2	MCF-7	breast:
14	chr2:11620802..11622693-chr2:11801885..11804962,3	MCF-7	breast:
15	chr17:57922980..57925938-chr2:11621191..11623045,2	MCF-7	breast:
16	chr2:11620752..11623461-chr7:108208476..108211188,2	MCF-7	breast:
17	chr2:10968173..10970876-chr2:11621344..11624039,2	MCF-7	breast:
18	chr2:11295276..11298034-chr2:11619894..11623397,3	MCF-7	breast:
19	chr2:11484534..11486427-chr2:11621929..11623752,2	MCF-7	breast:
20	chr2:11621442..11624193-chr6:27859669..27862456,2	MCF-7	breast:
21	chr2:11620746..11622950-chr6:35997193..35998902,2	MCF-7	breast:
22	chr2:11313501..11315110-chr2:11621698..11623847,2	MCF-7	breast:
23	chr2:11619432..11626810-chr2:11815160..11825829,15	MCF-7	breast:
24	chr2:11620928..11624804-chr20:45948428..45951214,3	MCF-7	breast:
25	chr2:11620854..11623036-chr5:41911701..41913647,2	MCF-7	breast:
26	chr2:11622407..11624543-chr2:228505560..228507680,2	MCF-7	breast:
27	chr2:11272161..11273870-chr2:11621396..11624363,2	MCF-7	breast:
28	chr2:11619575..11623223-chr2:11785570..11788850,5	MCF-7	breast:
29	chr2:11572499..11575442-chr2:11621165..11623225,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196331	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000169006	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000207267	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3435148	chr2:11622251-11624149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11620400-11622800	Enhancers	Fetal Lung	lung
2	chr2:11621400-11623200	Bivalent Enhancer	Placenta	Placenta
3	chr2:11621400-11623400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr2:11621600-11624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:11621800-11623200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr2:11621800-11623400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr2:11622000-11623400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr2:11622000-11623400	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr2:11622000-11623600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:11622000-11624000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:11622000-11624000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:11622000-11624600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:11622000-11624600	Enhancers	Fetal Heart	heart
14	chr2:11622000-11624600	Active TSS	Ovary	ovary
15	chr2:11622200-11622800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
16	chr2:11622200-11622800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr2:11622200-11622800	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr2:11622200-11622800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr2:11622200-11623000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:11622200-11623200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr2:11622200-11623200	Active TSS	Right Ventricle	heart
22	chr2:11622200-11623600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
23	chr2:11622200-11623800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:11622200-11624000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:11622200-11624200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:11622200-11624200	Active TSS	Brain Anterior Caudate	brain
27	chr2:11622200-11624200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:11622200-11624400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:11622200-11624400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:11622200-11624600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:11622200-11625000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:11622400-11622800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr2:11622400-11622800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:11622400-11622800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:11622400-11622800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:11622400-11622800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:11622400-11622800	Enhancers	Esophagus	oesophagus
38	chr2:11622400-11622800	Enhancers	Gastric	stomach
39	chr2:11622400-11622800	Enhancers	Lung	lung
40	chr2:11622400-11622800	Enhancers	Pancreas	Pancrea
41	chr2:11622400-11623000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr2:11622400-11623200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr2:11622400-11623200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr2:11622400-11623200	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:11622400-11623400	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr2:11622400-11623400	Active TSS	Left Ventricle	heart
47	chr2:11622400-11623800	Bivalent Enhancer	Primary B cells from cord blood	blood
48	chr2:11622400-11624000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr2:11622400-11624000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:11622400-11624000	Active TSS	Brain Hippocampus Middle	brain

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