Variant report

Variant	rs7514615
Chromosome Location	chr1:186342323-186342324
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:186341734-186342825	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186341227..186346056-chr1:193025925..193030298,4	K562	blood:
2	chr1:186340097..186342722-chr1:186343122..186345434,2	MCF-7	breast:
3	chr1:186311436..186314433-chr1:186341934..186345376,3	K562	blood:
4	chr1:186312933..186317180-chr1:186341100..186346147,6	K562	blood:
5	chr1:186307526..186309096-chr1:186339820..186342574,2	K562	blood:

No data

Variant related genes	Relation type
C1orf27	TF binding region
ENSG00000116747	Chromatin interaction
ENSG00000047410	Chromatin interaction
ENSG00000157181	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10494583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10494584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1406294	0.85[ASN][1000 genomes]
rs16825150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16825183	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825201	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825248	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825279	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16825335	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17491733	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1919199	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1919200	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2272412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273777	0.85[ASN][1000 genomes]
rs2273778	0.86[ASN][1000 genomes]
rs2297226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715477	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3119331	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3131554	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34585917	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3736595	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766702	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3766705	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3820181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57040195	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6425024	0.85[ASN][1000 genomes]
rs6425027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425028	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6667940	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6679066	0.81[ASN][1000 genomes]
rs6689129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525634	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7556543	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv548399	chr1:186295930-186353461	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7514615	C1orf27	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
4	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:186280000-186342400	Strong transcription	Osteobl	bone
8	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:186280000-186342600	Strong transcription	HSMM	muscle
10	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:186287000-186343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:186318600-186342600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:186326600-186343200	Weak transcription	Right Ventricle	heart
18	chr1:186326600-186343400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:186326600-186343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:186326600-186343400	Weak transcription	Aorta	Aorta
21	chr1:186326600-186343400	Weak transcription	Gastric	stomach
22	chr1:186330400-186343400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:186334400-186343400	Weak transcription	Small Intestine	intestine
24	chr1:186335200-186343800	Weak transcription	Spleen	Spleen
25	chr1:186335400-186342400	Strong transcription	NHDF-Ad	bronchial
26	chr1:186335400-186343400	Weak transcription	Pancreas	Pancrea
27	chr1:186335600-186343200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:186336600-186343400	Weak transcription	Colonic Mucosa	Colon
29	chr1:186336600-186343400	Weak transcription	Lung	lung
30	chr1:186337000-186343200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:186337000-186343200	Weak transcription	HSMMtube	muscle
32	chr1:186337000-186343600	Weak transcription	Stomach Mucosa	stomach
33	chr1:186337200-186342400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:186337200-186343000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:186337800-186343200	Weak transcription	Ovary	ovary
36	chr1:186337800-186343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:186338000-186342400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:186338000-186343000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:186338200-186342400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:186338200-186342400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:186338200-186343000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:186338200-186343200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:186338200-186343200	Weak transcription	Thymus	Thymus
44	chr1:186338200-186343400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:186338400-186342400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:186338400-186343000	Weak transcription	Fetal Brain Male	brain
47	chr1:186340000-186342400	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:186340000-186342600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:186340200-186343400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:186340200-186343400	Weak transcription	Brain Substantia Nigra	brain

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