Variant report

Variant	rs1011468
Chromosome Location	chr7:104613791-104613792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104585377..104587497-chr7:104613501..104615407,2	K562	blood:

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

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

rs_ID	r²[population]
rs10228174	0.83[EUR][1000 genomes]
rs10247691	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10252714	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10263499	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1029596	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[EUR][1000 genomes]
rs11978288	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11981882	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12534212	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12705296	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17640472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2074753	0.86[YRI][hapmap]
rs2097942	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs2106500	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2299298	0.81[EUR][1000 genomes]
rs2299305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4602821	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4727618	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56016333	0.93[ASN][1000 genomes]
rs6466035	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67665940	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6947388	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6950894	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6963395	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes]
rs6976394	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6980244	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7784126	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes]
rs888086	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9918494	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:104599000-104617200	Weak transcription	Gastric	stomach
9	chr7:104601800-104622800	Weak transcription	Thymus	Thymus
10	chr7:104602600-104614400	Weak transcription	Placenta	Placenta
11	chr7:104604600-104620200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:104604800-104614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:104604800-104617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:104605000-104616800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:104605200-104614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:104605400-104614400	Weak transcription	Fetal Kidney	kidney
17	chr7:104605600-104614000	Weak transcription	Fetal Stomach	stomach
18	chr7:104606600-104622000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:104607200-104615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:104608200-104614000	Weak transcription	Aorta	Aorta
21	chr7:104608200-104617000	Weak transcription	Lung	lung
22	chr7:104608400-104614800	Weak transcription	Pancreas	Pancrea
23	chr7:104608400-104623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:104609000-104614400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr7:104610800-104615200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:104611000-104614000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:104611600-104614000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:104611600-104614200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:104611600-104614200	Enhancers	NHDF-Ad	bronchial
30	chr7:104611600-104614400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:104611600-104615200	Enhancers	NHLF	lung
32	chr7:104611600-104615200	Enhancers	Osteobl	bone
33	chr7:104611800-104614000	Enhancers	NHEK	skin
34	chr7:104611800-104614200	Enhancers	HUVEC	blood vessel
35	chr7:104611800-104615200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:104611800-104615200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:104611800-104615200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:104611800-104615200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:104611800-104615200	Enhancers	Stomach Mucosa	stomach
40	chr7:104611800-104615200	Enhancers	HMEC	breast
41	chr7:104611800-104617000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:104612000-104614000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:104612000-104614000	Enhancers	NH-A	brain
44	chr7:104612000-104614400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:104612200-104613800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:104612200-104614000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:104612200-104614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:104612200-104615200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:104612400-104614800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:104612400-104615200	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links