Variant report

Variant	rs59991093
Chromosome Location	chr2:47615201-47615202
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47561911..47562936-chr2:47614708..47616088,5	MCF-7	breast:
2	chr2:47602208..47603999-chr2:47614007..47616997,2	MCF-7	breast:
3	chr2:47560958..47563782-chr2:47613273..47615976,2	MCF-7	breast:
4	chr2:47595207..47598093-chr2:47613990..47616188,2	MCF-7	breast:
5	chr2:47563691..47564221-chr2:47615150..47615869,2	K562	blood:
6	chr2:47615146..47616070-chr2:47994758..47995307,2	K562	blood:
7	chr2:47606207..47609402-chr2:47613991..47616587,3	MCF-7	breast:
8	chr2:47595232..47598426-chr2:47612050..47615406,4	MCF-7	breast:
9	chr2:47608775..47611521-chr2:47612524..47615427,2	K562	blood:
10	chr2:47605273..47608224-chr2:47615114..47617805,3	K562	blood:
11	chr2:47561931..47562835-chr2:47615155..47616056,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57279207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57598249	1.00[AMR][1000 genomes]
rs57652834	1.00[AFR][1000 genomes]
rs58079492	1.00[AMR][1000 genomes]
rs61756466	1.00[AMR][1000 genomes]
rs72882770	1.00[AFR][1000 genomes]
rs72882780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884619	1.00[AMR][1000 genomes]
rs72884627	1.00[AMR][1000 genomes]
rs72884684	1.00[AFR][1000 genomes]
rs72884688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884694	1.00[AFR][1000 genomes]
rs72884701	1.00[AFR][1000 genomes]
rs72886333	1.00[AFR][1000 genomes]
rs72886340	1.00[AFR][1000 genomes]
rs72886346	1.00[AFR][1000 genomes]
rs72886357	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47597200-47619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47597400-47617000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:47597400-47629400	Weak transcription	NHEK	skin
4	chr2:47597600-47615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47600200-47617800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:47600400-47616800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:47600600-47617200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:47601200-47616800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:47601200-47629400	Weak transcription	Stomach Mucosa	stomach
10	chr2:47603200-47619000	Weak transcription	K562	blood
11	chr2:47604800-47617000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:47604800-47628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47605200-47629000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:47607800-47615400	Weak transcription	HepG2	liver
15	chr2:47607800-47624000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:47608000-47629000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:47609200-47618200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:47609200-47619600	Strong transcription	Fetal Intestine Large	intestine
19	chr2:47609800-47618800	Weak transcription	Pancreas	Pancrea
20	chr2:47609800-47619600	Weak transcription	Gastric	stomach
21	chr2:47609800-47629200	Weak transcription	Fetal Stomach	stomach
22	chr2:47610200-47615400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:47611600-47617200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr2:47611800-47619400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:47612000-47629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:47613200-47616400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:47613400-47619200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:47613800-47620800	Weak transcription	Fetal Kidney	kidney
29	chr2:47614000-47615800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:47614000-47620400	Strong transcription	Fetal Intestine Small	intestine
31	chr2:47614000-47620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:47614200-47628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:47614600-47615600	Strong transcription	Colonic Mucosa	Colon
34	chr2:47614800-47617400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:47615000-47619200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:47615200-47615600	Enhancers	Brain Substantia Nigra	brain
37	chr2:47615200-47615600	Genic enhancers	Duodenum Mucosa	Duodenum
38	chr2:47615200-47615600	Enhancers	Fetal Brain Female	brain
39	chr2:47615200-47615600	Enhancers	A549	lung
40	chr2:47615200-47615600	Enhancers	GM12878-XiMat	blood

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