Variant report

Variant	rs573181180
Chromosome Location	chr2:11622340-11622341
allele	A/G
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	chr2:11583321..11585484-chr2:11620633..11622396,2	MCF-7	breast:
10	chr17:77905046..77907139-chr2:11621088..11623747,2	MCF-7	breast:
11	chr2:11621397..11624240-chr2:11808602..11811433,2	MCF-7	breast:
12	chr17:56736452..56738278-chr2:11622249..11624597,2	MCF-7	breast:
13	chr17:59486452..59489829-chr2:11621116..11624500,4	MCF-7	breast:
14	chr2:11567153..11569270-chr2:11621893..11624749,2	MCF-7	breast:
15	chr2:11620802..11622693-chr2:11801885..11804962,3	MCF-7	breast:
16	chr17:57922980..57925938-chr2:11621191..11623045,2	MCF-7	breast:
17	chr2:11620752..11623461-chr7:108208476..108211188,2	MCF-7	breast:
18	chr2:10968173..10970876-chr2:11621344..11624039,2	MCF-7	breast:
19	chr2:11295276..11298034-chr2:11619894..11623397,3	MCF-7	breast:
20	chr2:11484534..11486427-chr2:11621929..11623752,2	MCF-7	breast:
21	chr2:11621442..11624193-chr6:27859669..27862456,2	MCF-7	breast:
22	chr2:11620746..11622950-chr6:35997193..35998902,2	MCF-7	breast:
23	chr2:11313501..11315110-chr2:11621698..11623847,2	MCF-7	breast:
24	chr2:11619432..11626810-chr2:11815160..11825829,15	MCF-7	breast:
25	chr2:11620928..11624804-chr20:45948428..45951214,3	MCF-7	breast:
26	chr2:11620854..11623036-chr5:41911701..41913647,2	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
ENSG00000197153	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000169006	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000207267	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000145063	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11607200-11622400	Weak transcription	Spleen	Spleen
2	chr2:11618200-11622400	Enhancers	HepG2	liver
3	chr2:11618400-11622400	Weak transcription	Psoas Muscle	Psoas
4	chr2:11619200-11622400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:11620400-11622800	Enhancers	Fetal Lung	lung
6	chr2:11621000-11622400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:11621200-11622600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11621400-11622400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:11621400-11622400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr2:11621400-11623200	Bivalent Enhancer	Placenta	Placenta
11	chr2:11621400-11623400	Bivalent Enhancer	Fetal Brain Male	brain
12	chr2:11621600-11624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:11621800-11622400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:11621800-11622600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:11621800-11622600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:11621800-11622600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:11621800-11623200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr2:11621800-11623400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr2:11622000-11622400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr2:11622000-11622400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:11622000-11622600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:11622000-11622600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11622000-11622600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:11622000-11623400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr2:11622000-11623400	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr2:11622000-11623600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:11622000-11624000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:11622000-11624000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:11622000-11624600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:11622000-11624600	Enhancers	Fetal Heart	heart
31	chr2:11622000-11624600	Active TSS	Ovary	ovary
32	chr2:11622200-11622400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:11622200-11622400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr2:11622200-11622400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr2:11622200-11622400	Enhancers	Adipose Nuclei	Adipose
36	chr2:11622200-11622400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr2:11622200-11622400	Enhancers	Brain Substantia Nigra	brain
38	chr2:11622200-11622600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:11622200-11622600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:11622200-11622600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:11622200-11622600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr2:11622200-11622600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:11622200-11622600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr2:11622200-11622600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr2:11622200-11622800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr2:11622200-11622800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr2:11622200-11622800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr2:11622200-11622800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr2:11622200-11623000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:11622200-11623200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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