Variant report

Variant	rs9857248
Chromosome Location	chr3:49129543-49129544
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: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	chr3:49128910..49133326-chr3:49168969..49172072,7	MCF-7	breast:
2	chr3:49128213..49133667-chr3:49140039..49144982,11	MCF-7	breast:
3	chr3:49128926..49138937-chr3:49145476..49160975,31	K562	blood:
4	chr3:49129337..49131574-chr3:49165635..49167419,2	K562	blood:
5	chr3:49062154..49067981-chr3:49128951..49132856,8	K562	blood:
6	chr3:49129088..49132112-chr3:49168482..49170657,4	MCF-7	breast:
7	chr3:49055445..49060745-chr3:49128874..49135153,17	MCF-7	breast:
8	chr3:49052218..49068794-chr3:49126865..49133927,44	K562	blood:
9	chr3:49054288..49061452-chr3:49128946..49133927,24	K562	blood:
10	chr3:49128925..49131724-chr3:49157587..49160255,2	MCF-7	breast:
11	chr3:49062784..49068653-chr3:49129538..49133266,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178149	Chromatin interaction
ENSG00000172037	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000172053	Chromatin interaction
ENSG00000172046	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000199032	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11540500	1.00[MEX][hapmap]
rs11713750	1.00[MEX][hapmap]
rs35806761	1.00[MEX][hapmap]
rs6781617	1.00[CHB][hapmap]

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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv876765	chr3:49119063-49160671	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49066800-49130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49066800-49130200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49095400-49129600	Weak transcription	Stomach Mucosa	stomach
4	chr3:49111800-49129600	Weak transcription	HSMMtube	muscle
5	chr3:49114400-49129600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:49114400-49129600	Weak transcription	Right Ventricle	heart
7	chr3:49114400-49129800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:49114400-49130000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:49115000-49130200	Weak transcription	Aorta	Aorta
10	chr3:49115000-49130600	Weak transcription	Spleen	Spleen
11	chr3:49115200-49129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:49115600-49129600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:49115600-49129600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:49115600-49130000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:49115600-49130200	Weak transcription	Esophagus	oesophagus
16	chr3:49115800-49129600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:49115800-49129600	Weak transcription	K562	blood
18	chr3:49116000-49129800	Weak transcription	Colonic Mucosa	Colon
19	chr3:49116800-49130200	Weak transcription	Placenta	Placenta
20	chr3:49117200-49129600	Weak transcription	HSMM	muscle
21	chr3:49117200-49130000	Weak transcription	Right Atrium	heart
22	chr3:49117200-49130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:49117200-49130200	Weak transcription	Gastric	stomach
24	chr3:49117200-49130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:49119000-49129600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:49119600-49130200	Weak transcription	Lung	lung
27	chr3:49119600-49130200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:49120000-49129600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:49122200-49129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:49122200-49130200	Weak transcription	Left Ventricle	heart
31	chr3:49122400-49129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:49124200-49130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:49125600-49129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:49125800-49130000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr3:49126200-49130000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:49126200-49130000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:49126200-49130400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:49126600-49129600	Genic enhancers	Dnd41	blood
39	chr3:49126800-49129600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:49126800-49130000	Enhancers	Brain Angular Gyrus	brain
41	chr3:49126800-49130200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:49126800-49130200	Weak transcription	Ovary	ovary
43	chr3:49127000-49129600	Strong transcription	NHEK	skin
44	chr3:49127000-49129800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:49127200-49129600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:49127400-49129600	Weak transcription	A549	lung
47	chr3:49127400-49129600	Weak transcription	NH-A	brain
48	chr3:49127400-49129800	Enhancers	Liver	Liver
49	chr3:49127600-49129600	Weak transcription	Fetal Lung	lung
50	chr3:49127800-49129600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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