Variant report

Variant	rs72806580
Chromosome Location	chr2:47242081-47242082
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:47242011..47245119-chr2:47248786..47251159,3	K562	blood:
2	chr2:47239533..47242401-chr2:47254885..47256539,3	MCF-7	breast:
3	chr2:47240423..47243705-chr2:47401498..47404944,5	MCF-7	breast:
4	chr2:47237082..47239286-chr2:47241685..47244627,2	K562	blood:
5	chr2:47230310..47234237-chr2:47240805..47244981,3	K562	blood:
6	chr2:47241809..47243733-chr2:47418133..47419880,2	MCF-7	breast:
7	chr2:47240964..47242721-chr2:47400024..47402501,2	K562	blood:
8	chr2:47235055..47237269-chr2:47239920..47242362,2	MCF-7	breast:
9	chr2:47241103..47242640-chr2:47398304..47400059,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10164750	1.00[ASN][1000 genomes]
rs17036138	0.88[ASN][1000 genomes]
rs3814037	0.94[ASN][1000 genomes]
rs55654462	1.00[ASN][1000 genomes]
rs56200787	0.88[ASN][1000 genomes]
rs7565217	1.00[ASN][1000 genomes]
rs7565683	1.00[ASN][1000 genomes]
rs7592145	1.00[ASN][1000 genomes]
rs919884	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv984532	chr2:47237908-47270533	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
6	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:47229200-47243000	Enhancers	Fetal Brain Male	brain
8	chr2:47229200-47248600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:47230200-47302800	Strong transcription	Dnd41	blood
10	chr2:47230800-47243000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:47231400-47243000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:47231600-47243000	Strong transcription	Placenta	Placenta
13	chr2:47231600-47243000	Weak transcription	HUVEC	blood vessel
14	chr2:47231800-47243800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:47232400-47245000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:47232400-47257000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:47232800-47244000	Strong transcription	Esophagus	oesophagus
19	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:47236000-47243400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:47236000-47278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:47236400-47243400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:47236400-47243400	Weak transcription	Stomach Mucosa	stomach
24	chr2:47236400-47243600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:47236600-47242400	Weak transcription	NH-A	brain
26	chr2:47236600-47243200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:47236600-47253600	Strong transcription	Fetal Intestine Small	intestine
28	chr2:47236600-47259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:47236600-47259200	Weak transcription	Fetal Kidney	kidney
30	chr2:47236800-47243400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:47236800-47251600	Weak transcription	Fetal Lung	lung
32	chr2:47237000-47243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:47237000-47246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:47237000-47247400	Strong transcription	Fetal Stomach	stomach
35	chr2:47237000-47254200	Weak transcription	Ovary	ovary
36	chr2:47237000-47260400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:47237200-47249200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:47237400-47245200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:47237600-47242400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:47237600-47244200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:47238000-47244200	Strong transcription	Primary B cells from cord blood	blood
42	chr2:47238000-47247400	Strong transcription	Primary T cells from cord blood	blood
43	chr2:47238200-47242200	Genic enhancers	Brain Cingulate Gyrus	brain
44	chr2:47238200-47242200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:47238200-47242400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:47238200-47242400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:47238200-47242600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:47238200-47242800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:47238200-47243000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:47238200-47243400	Strong transcription	Rectal Mucosa Donor 31	rectum

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