Variant report

Variant	rs4951420
Chromosome Location	chr1:211805625-211805626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr1:211805499..211810389-chr1:211816053..211819078,4	K562	blood:
4	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
5	chr1:211751888..211754442-chr1:211802354..211807016,4	K562	blood:
6	chr1:211750004..211752900-chr1:211803932..211806097,2	MCF-7	breast:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10157989	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10158618	0.86[ASN][1000 genomes]
rs10158723	0.86[ASN][1000 genomes]
rs10158740	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10494940	1.00[JPT][hapmap]
rs10779564	0.82[CHB][hapmap]
rs11577181	0.86[ASN][1000 genomes]
rs11580557	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11590554	0.86[ASN][1000 genomes]
rs12239534	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12711504	0.86[ASN][1000 genomes]
rs12711505	0.86[ASN][1000 genomes]
rs12711506	0.86[ASN][1000 genomes]
rs12711507	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12730869	0.86[ASN][1000 genomes]
rs12749444	0.82[ASN][1000 genomes]
rs12751564	0.86[ASN][1000 genomes]
rs12755496	0.86[ASN][1000 genomes]
rs12756676	0.86[ASN][1000 genomes]
rs17017855	0.86[ASN][1000 genomes]
rs17651870	1.00[JPT][hapmap]
rs34028707	0.81[ASN][1000 genomes]
rs4951414	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4951417	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs603227	1.00[JPT][hapmap]
rs7529914	0.86[ASN][1000 genomes]
rs765202	0.86[ASN][1000 genomes]

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:52 , 50 per page) page: 1 2

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	chr1:211804000-211806400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:211804000-211806400	Weak transcription	Gastric	stomach
12	chr1:211804000-211806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:211804200-211805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:211804200-211805800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:211804200-211806400	Weak transcription	A549	lung
16	chr1:211804200-211807200	Enhancers	Right Atrium	heart
17	chr1:211804200-211807200	Enhancers	Right Ventricle	heart
18	chr1:211804200-211807600	Enhancers	Left Ventricle	heart
19	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:211804400-211805800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:211804400-211805800	Weak transcription	Lung	lung
23	chr1:211804400-211806200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:211804400-211806200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211804400-211806400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:211804400-211807400	Enhancers	Spleen	Spleen
27	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
28	chr1:211804800-211805800	Weak transcription	Placenta	Placenta
29	chr1:211804800-211806000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:211804800-211806000	Weak transcription	Adipose Nuclei	Adipose
31	chr1:211804800-211806200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:211804800-211806400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:211804800-211806400	Enhancers	HepG2	liver
34	chr1:211804800-211806400	Enhancers	K562	blood
35	chr1:211805000-211807000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:211805200-211806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:211805400-211805800	Bivalent Enhancer	NHEK	skin
38	chr1:211805400-211806800	Enhancers	GM12878-XiMat	blood
39	chr1:211805400-211807000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:211805400-211807000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:211805400-211807000	Enhancers	Colon Smooth Muscle	Colon
42	chr1:211805400-211807400	Enhancers	Osteobl	bone
43	chr1:211805400-211808200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:211805400-211808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:211805600-211805800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:211805600-211806600	Enhancers	Brain Anterior Caudate	brain
47	chr1:211805600-211807000	Enhancers	Esophagus	oesophagus
48	chr1:211805600-211807000	Enhancers	Fetal Lung	lung
49	chr1:211805600-211807200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:211805600-211807200	Enhancers	HSMM	muscle

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