Variant report

Variant	rs4951417
Chromosome Location	chr1:211805093-211805094
allele	A/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: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	chr1:211802788..211806999-chr1:211814684..211819078,4	K562	blood:
2	chr1:211804616..211806935-chr1:211847772..211850584,2	K562	blood:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211793145..211800078-chr1:211800841..211805263,11	K562	blood:
5	chr1:211741510..211743942-chr1:211802313..211805190,2	K562	blood:
6	chr1:211751888..211754442-chr1:211802354..211807016,4	K562	blood:
7	chr1:211750004..211752900-chr1:211803932..211806097,2	MCF-7	breast:
8	chr1:211723836..211726328-chr1:211802302..211805262,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000117650	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10157989	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10158618	0.90[ASN][1000 genomes]
rs10158723	0.90[ASN][1000 genomes]
rs10158740	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10494940	1.00[JPT][hapmap]
rs11577181	0.90[ASN][1000 genomes]
rs11580557	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11590554	0.90[ASN][1000 genomes]
rs12239534	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12711504	0.90[ASN][1000 genomes]
rs12711505	0.90[ASN][1000 genomes]
rs12711506	0.90[ASN][1000 genomes]
rs12711507	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12730869	0.90[ASN][1000 genomes]
rs12749444	0.86[ASN][1000 genomes]
rs12751564	0.90[ASN][1000 genomes]
rs12755496	0.90[ASN][1000 genomes]
rs12756676	0.90[ASN][1000 genomes]
rs17017855	0.90[ASN][1000 genomes]
rs17651870	1.00[JPT][hapmap]
rs1867376	0.85[MEX][hapmap]
rs34028707	0.85[ASN][1000 genomes]
rs41314254	0.83[EUR][1000 genomes]
rs4345851	0.81[ASN][1000 genomes]
rs4399227	0.81[ASN][1000 genomes]
rs4562684	0.81[ASN][1000 genomes]
rs4951414	1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4951420	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56320548	0.82[AFR][1000 genomes]
rs603227	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6540692	0.81[ASN][1000 genomes]
rs6684175	0.82[MEX][hapmap]
rs7529914	0.90[ASN][1000 genomes]
rs765202	0.90[ASN][1000 genomes]
rs9430074	0.85[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211800000-211807200	Enhancers	Fetal Heart	heart
2	chr1:211802000-211806400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:211803400-211806000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:211803400-211807000	Enhancers	Ovary	ovary
5	chr1:211803400-211807600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:211803400-211807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:211803600-211807200	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:211803600-211807200	Enhancers	Fetal Muscle Leg	muscle
9	chr1:211803800-211807600	Enhancers	Fetal Thymus	thymus
10	chr1:211804000-211805600	Weak transcription	HMEC	breast
11	chr1:211804000-211806400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:211804000-211806400	Weak transcription	Gastric	stomach
13	chr1:211804000-211806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:211804200-211805600	Weak transcription	Esophagus	oesophagus
15	chr1:211804200-211805600	Weak transcription	NH-A	brain
16	chr1:211804200-211805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:211804200-211805800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:211804200-211806400	Weak transcription	A549	lung
19	chr1:211804200-211807200	Enhancers	Right Atrium	heart
20	chr1:211804200-211807200	Enhancers	Right Ventricle	heart
21	chr1:211804200-211807600	Enhancers	Left Ventricle	heart
22	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:211804400-211805200	Bivalent Enhancer	NHEK	skin
25	chr1:211804400-211805400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:211804400-211805800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:211804400-211805800	Weak transcription	Lung	lung
28	chr1:211804400-211806200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:211804400-211806200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:211804400-211806400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:211804400-211807400	Enhancers	Spleen	Spleen
32	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
33	chr1:211804600-211805400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:211804800-211805800	Weak transcription	Placenta	Placenta
35	chr1:211804800-211806000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:211804800-211806000	Weak transcription	Adipose Nuclei	Adipose
37	chr1:211804800-211806200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:211804800-211806400	Weak transcription	Fetal Intestine Large	intestine
39	chr1:211804800-211806400	Enhancers	HepG2	liver
40	chr1:211804800-211806400	Enhancers	K562	blood
41	chr1:211805000-211805600	Weak transcription	Fetal Lung	lung
42	chr1:211805000-211807000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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