Variant report

Variant	rs2279431
Chromosome Location	chr8:48647102-48647103
allele	C/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: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	chr8:48641261..48643837-chr8:48646304..48648401,2	K562	blood:
2	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
3	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
4	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
5	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
6	chr8:48604118..48606362-chr8:48646614..48648763,2	MCF-7	breast:
7	chr8:48645599..48648467-chr8:48653903..48656784,2	K562	blood:
8	chr8:48185030..48187029-chr8:48646598..48649243,2	K562	blood:
9	chr8:48493400..48495648-chr8:48645566..48647459,2	MCF-7	breast:
10	chr8:48589240..48591500-chr8:48645900..48648836,2	MCF-7	breast:
11	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:
12	chr8:48544030..48546745-chr8:48645753..48648082,2	MCF-7	breast:
13	chr8:48629245..48631641-chr8:48646004..48648559,2	MCF-7	breast:
14	chr8:48287238..48289798-chr8:48645955..48647701,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253330	Chromatin interaction
ENSG00000269924	Chromatin interaction
ENSG00000164808	Chromatin interaction

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

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

rs_ID	r²[population]
rs10087517	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10107723	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11989844	1.00[EUR][1000 genomes]
rs15955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17287635	1.00[AMR][1000 genomes]
rs3824124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8178050	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs8178085	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8178118	1.00[AMR][1000 genomes]

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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv890849	chr8:48644337-48671294	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48612000-48647400	Weak transcription	NH-A	brain
6	chr8:48613600-48647200	Weak transcription	A549	lung
7	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:48627000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:48627000-48647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:48632600-48647200	Weak transcription	Aorta	Aorta
17	chr8:48632800-48648600	Weak transcription	Brain Germinal Matrix	brain
18	chr8:48633200-48647600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:48635800-48647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:48637800-48649600	Weak transcription	Dnd41	blood
21	chr8:48639600-48651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:48640000-48647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:48640200-48647400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:48641400-48647600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:48641800-48649000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:48641800-48649200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:48642000-48647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:48642200-48647200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:48642200-48647800	Weak transcription	Thymus	Thymus
30	chr8:48643200-48647400	Weak transcription	GM12878-XiMat	blood
31	chr8:48643400-48648200	Weak transcription	Fetal Brain Female	brain
32	chr8:48644400-48647600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:48644400-48647600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:48644600-48647400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:48645200-48647200	Weak transcription	Primary T cells from cord blood	blood
36	chr8:48645600-48647200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:48645800-48647200	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr8:48646000-48647200	Genic enhancers	Lung	lung
39	chr8:48646200-48647200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:48646200-48647200	Genic enhancers	Colonic Mucosa	Colon
41	chr8:48646200-48647200	Genic enhancers	Fetal Intestine Small	intestine
42	chr8:48646200-48647200	Genic enhancers	Gastric	stomach
43	chr8:48646200-48647200	Enhancers	Ovary	ovary
44	chr8:48646200-48647200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
45	chr8:48646200-48647400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:48646200-48647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:48646200-48647400	Enhancers	NHDF-Ad	bronchial
48	chr8:48646200-48649400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
49	chr8:48646400-48647400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:48646400-48647400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links