Variant report

Variant	rs72937680
Chromosome Location	chr2:96969913-96969914
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96930148..96938607-chr2:96966008..96973188,21	MCF-7	breast:
2	chr2:96969262..96970891-chr2:97008421..97010765,2	K562	blood:
3	chr2:96968224..96973301-chr2:96983171..96988936,6	MCF-7	breast:
4	chr2:96967785..96972096-chr2:96987875..96991841,5	K562	blood:
5	chr2:96968917..96970617-chr2:96996480..96998575,2	MCF-7	breast:
6	chr2:96969192..96974477-chr2:96999948..97003661,14	K562	blood:
7	chr2:96948930..96951711-chr2:96968468..96971166,2	MCF-7	breast:
8	chr2:96968671..96973165-chr2:96996066..97004511,14	MCF-7	breast:
9	chr2:96969674..96973937-chr2:96983543..96988332,6	MCF-7	breast:
10	chr2:96969876..96972169-chr2:97534530..97536512,2	MCF-7	breast:
11	chr2:96968585..96970828-chr2:97172728..97175228,2	MCF-7	breast:
12	chr2:96928652..96934635-chr2:96966746..96973769,11	K562	blood:
13	chr2:96925245..96927615-chr2:96969806..96971741,2	MCF-7	breast:
14	chr2:96930218..96933448-chr2:96968870..96972894,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135956	Chromatin interaction
ENSG00000230747	Chromatin interaction
ENSG00000163121	Chromatin interaction
ENSG00000144028	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000121152	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000144021	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57966158	1.00[AFR][1000 genomes]
rs58224517	0.86[AFR][1000 genomes]
rs61225141	0.86[AFR][1000 genomes]
rs6721923	1.00[AFR][1000 genomes]
rs72937668	1.00[AFR][1000 genomes]
rs72937669	1.00[AFR][1000 genomes]
rs72937670	1.00[AFR][1000 genomes]
rs72937692	0.86[AFR][1000 genomes]
rs72939354	0.83[AFR][1000 genomes]
rs72939616	0.86[AFR][1000 genomes]
rs72939640	0.86[AFR][1000 genomes]
rs72947357	0.86[AFR][1000 genomes]
rs72947387	0.86[AFR][1000 genomes]
rs72947401	0.86[AFR][1000 genomes]
rs7609551	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96932800-96970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:96933200-96970200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:96933200-96970400	Weak transcription	Right Atrium	heart
4	chr2:96933400-96970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:96933400-96970200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:96933400-96970200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:96933400-96970200	Strong transcription	Fetal Lung	lung
8	chr2:96933400-96970200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:96933600-96970000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:96933600-96970000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:96933600-96970000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:96933600-96970200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:96933600-96970200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:96933600-96970200	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:96933600-96970200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:96934600-96970000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:96936400-96970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:96936400-96970000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:96936800-96970200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:96937600-96970000	Strong transcription	A549	lung
21	chr2:96939800-96970000	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:96940800-96970200	Strong transcription	Osteobl	bone
23	chr2:96944000-96970200	Strong transcription	Brain Anterior Caudate	brain
24	chr2:96946800-96970200	Strong transcription	HSMM	muscle
25	chr2:96947000-96970200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:96947200-96970000	Strong transcription	NH-A	brain
27	chr2:96947200-96970200	Strong transcription	NHDF-Ad	bronchial
28	chr2:96958000-96970200	Strong transcription	Placenta	Placenta
29	chr2:96958400-96970400	Weak transcription	Stomach Mucosa	stomach
30	chr2:96963400-96970000	Strong transcription	Fetal Brain Male	brain
31	chr2:96965600-96970000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:96966600-96970000	Genic enhancers	Dnd41	blood
33	chr2:96966600-96970200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:96966600-96970400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:96966800-96970000	Genic enhancers	K562	blood
36	chr2:96966800-96970200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:96966800-96970200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:96966800-96970200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:96966800-96970400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr2:96967000-96970400	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr2:96967000-96970400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:96967000-96970400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:96967200-96970200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:96967200-96970200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:96967800-96970200	Weak transcription	Fetal Heart	heart
46	chr2:96968400-96970400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:96968400-96970400	Strong transcription	Fetal Thymus	thymus
48	chr2:96968800-96970000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:96969000-96970400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:96969200-96970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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