Variant report

Variant	rs7513529
Chromosome Location	chr1:212430938-212430939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
2	chr1:212428875..212432292-chr1:212434801..212437724,6	K562	blood:
3	chr1:212409597..212412349-chr1:212428867..212431226,2	K562	blood:
4	chr1:212423429..212425837-chr1:212429181..212431560,2	K562	blood:

Variant related genes	Relation type
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10863959	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119892	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12062131	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066356	0.82[AFR][1000 genomes]
rs12141025	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12759994	0.80[AFR][1000 genomes]
rs1473321	0.95[CEU][hapmap]
rs1539206	0.95[CEU][hapmap]
rs6540739	0.91[CEU][hapmap]
rs7521041	0.95[AFR][1000 genomes]
rs7527863	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531219	0.95[AFR][1000 genomes]
rs765364	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7513529	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs7513529	RP11-15I11.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212423600-212431200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr1:212424400-212431200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:212424600-212431000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:212428000-212431000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:212428200-212431000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:212428200-212431800	Enhancers	Pancreas	Pancrea
7	chr1:212428600-212434000	Weak transcription	Esophagus	oesophagus
8	chr1:212428800-212434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:212429200-212434200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:212429200-212434400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:212429400-212431200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:212429400-212431200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:212429400-212431600	Enhancers	Liver	Liver
14	chr1:212429400-212432600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:212429400-212434000	Weak transcription	Stomach Mucosa	stomach
16	chr1:212429400-212434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:212429400-212435600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:212429600-212433000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:212429600-212434000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:212429600-212434200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:212429800-212431400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:212429800-212432400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:212429800-212434000	Weak transcription	K562	blood
24	chr1:212430000-212431400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:212430000-212431600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:212430000-212431600	Weak transcription	Small Intestine	intestine
27	chr1:212430000-212431800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:212430000-212433600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:212430000-212433800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:212430200-212431400	Weak transcription	Gastric	stomach
31	chr1:212430200-212433200	Enhancers	Primary T cells from cord blood	blood
32	chr1:212430200-212434600	Weak transcription	Left Ventricle	heart
33	chr1:212430400-212431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:212430400-212431000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:212430400-212431400	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:212430400-212435600	Enhancers	HepG2	liver
37	chr1:212430600-212431400	Enhancers	Primary B cells from cord blood	blood
38	chr1:212430600-212431600	Weak transcription	Thymus	Thymus
39	chr1:212430600-212434000	Weak transcription	Lung	lung
40	chr1:212430600-212435000	Enhancers	Adipose Nuclei	Adipose
41	chr1:212430800-212431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:212430800-212434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:212430800-212434400	Weak transcription	Right Atrium	heart
44	chr1:212430800-212434400	Weak transcription	Right Ventricle	heart

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