Variant report

Variant	rs6744343
Chromosome Location	chr2:47616087-47616088
allele	A/C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr2:47595207..47598093-chr2:47613990..47616188,2	MCF-7	breast:
4	chr2:47606207..47609402-chr2:47613991..47616587,3	MCF-7	breast:
5	chr2:47615615..47617911-chr2:47628205..47630073,2	MCF-7	breast:
6	chr2:47605273..47608224-chr2:47615114..47617805,3	K562	blood:
7	chr2:47554658..47556218-chr2:47615357..47617710,2	K562	blood:
8	chr2:47562102..47562867-chr2:47615401..47616252,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11686493	0.81[EUR][1000 genomes]
rs12986965	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13019133	0.81[EUR][1000 genomes]
rs17224332	0.81[EUR][1000 genomes]
rs2303428	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs6544986	0.85[EUR][1000 genomes]
rs74179082	0.85[EUR][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:36 , 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	chr2:47600200-47617800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:47600400-47616800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:47600600-47617200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:47601200-47616800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:47601200-47629400	Weak transcription	Stomach Mucosa	stomach
9	chr2:47603200-47619000	Weak transcription	K562	blood
10	chr2:47604800-47617000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:47604800-47628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:47605200-47629000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:47607800-47624000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:47608000-47629000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:47609200-47618200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:47609200-47619600	Strong transcription	Fetal Intestine Large	intestine
17	chr2:47609800-47618800	Weak transcription	Pancreas	Pancrea
18	chr2:47609800-47619600	Weak transcription	Gastric	stomach
19	chr2:47609800-47629200	Weak transcription	Fetal Stomach	stomach
20	chr2:47611600-47617200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:47611800-47619400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr2:47612000-47629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:47613200-47616400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:47613400-47619200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:47613800-47620800	Weak transcription	Fetal Kidney	kidney
26	chr2:47614000-47620400	Strong transcription	Fetal Intestine Small	intestine
27	chr2:47614000-47620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:47614200-47628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:47614800-47617400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:47615000-47619200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:47615400-47616200	Genic enhancers	HepG2	liver
32	chr2:47615600-47619400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:47615600-47629400	Weak transcription	Colonic Mucosa	Colon
34	chr2:47615800-47617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:47616000-47616800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:47616000-47617000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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