Variant report

Variant	rs13128301
Chromosome Location	chr4:110750992-110750993
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: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	chr4:110741009..110743541-chr4:110749653..110751404,2	MCF-7	breast:
2	chr4:110750840..110753466-chr4:110761296..110764201,3	K562	blood:
3	chr4:110749346..110751440-chr4:110864012..110865528,2	K562	blood:
4	chr4:110748139..110750172-chr4:110750209..110753037,2	MCF-7	breast:
5	chr4:110740840..110743631-chr4:110750092..110752586,3	MCF-7	breast:
6	chr4:110749531..110752514-chr4:110872921..110875581,2	K562	blood:
7	chr4:110744505..110746809-chr4:110749659..110751838,2	K562	blood:
8	chr4:110741410..110743630-chr4:110750496..110752725,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180245	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10020617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10022841	0.95[CHB][hapmap]
rs10365	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930428	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12510851	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12513108	1.00[CHB][hapmap]
rs13107617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13141065	0.95[CHB][hapmap]
rs13150454	1.00[CHB][hapmap]
rs1990250	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2347129	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2347132	0.81[CHB][hapmap]
rs3188897	0.82[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35386791	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35646628	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775961	1.00[CHB][hapmap]
rs4422417	0.95[CHB][hapmap]
rs4698749	1.00[CHB][hapmap]
rs4698797	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6814789	0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6827802	0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs6842245	0.94[CHB][hapmap]
rs7438763	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs764205	0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7654660	0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7657133	0.90[CHB][hapmap]
rs7664699	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
2	chr4:110737800-110753200	Weak transcription	Lung	lung
3	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:110738400-110757200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:110741000-110753000	Weak transcription	Left Ventricle	heart
6	chr4:110742200-110753000	Weak transcription	Fetal Kidney	kidney
7	chr4:110742200-110764400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:110742600-110752400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:110744000-110759600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:110744400-110774400	Weak transcription	Psoas Muscle	Psoas
11	chr4:110744600-110751000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:110744600-110751400	Weak transcription	A549	lung
13	chr4:110744600-110773200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:110746200-110751800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:110746400-110764000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:110746600-110761200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:110746800-110751600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:110746800-110752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:110746800-110752400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:110746800-110753000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:110746800-110759400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:110746800-110767600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:110747000-110751000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:110747000-110751000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:110747000-110751600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:110747000-110751600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:110747000-110751600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:110747000-110751800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:110747000-110752400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:110747000-110752400	Weak transcription	Fetal Thymus	thymus
31	chr4:110747000-110752600	Weak transcription	Liver	Liver
32	chr4:110747000-110754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:110747000-110754800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:110747000-110757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:110747200-110751400	Weak transcription	NH-A	brain
36	chr4:110747200-110752400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:110747200-110756400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:110747600-110758400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:110748400-110752400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:110748600-110751000	Weak transcription	HSMM	muscle
41	chr4:110748600-110752000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:110748600-110752800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:110749600-110751200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:110749600-110757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:110750400-110753200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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