Variant report

Variant	rs2794962
Chromosome Location	chr1:180236733-180236734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180223698..180225799-chr1:180234216..180237340,3	K562	blood:
2	chr1:180197410..180201386-chr1:180231377..180237159,7	MCF-7	breast:
3	chr1:180197053..180202321-chr1:180236654..180241118,5	MCF-7	breast:
4	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:

Variant related genes	Relation type
ENSG00000121454	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1043744	0.87[ASN][1000 genomes]
rs10737342	0.85[CHB][hapmap]
rs10798761	0.80[CHB][hapmap]
rs10798767	0.81[CHB][hapmap]
rs10914002	0.85[CHB][hapmap]
rs12691484	0.85[CHB][hapmap]
rs1418102	0.85[CHB][hapmap]
rs1925339	0.81[CHB][hapmap]
rs4058058	0.81[CHB][hapmap]
rs4424469	0.82[CHB][hapmap]
rs4483365	0.85[CHB][hapmap]
rs4642852	0.85[CHB][hapmap]
rs4652496	0.81[CHB][hapmap]
rs4652498	0.85[CHB][hapmap]
rs4652499	0.81[CHB][hapmap]
rs6425625	0.85[CHB][hapmap]
rs6661208	0.80[CHB][hapmap]
rs6680368	0.85[CHB][hapmap]
rs7536561	0.85[ASN][1000 genomes]
rs822706	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer 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 miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1005512	chr1:180127616-180242659	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv466239	chr1:180145978-180268476	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv548345	chr1:180145978-180268476	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1005073	chr1:180152550-180250783	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv535219	chr1:180152550-180250783	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1001477	chr1:180172903-180298287	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv535220	chr1:180172903-180298287	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv498075	chr1:180179441-180278544	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv872575	chr1:180186713-180238243	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv1013076	chr1:180214152-180239670	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv872576	chr1:180221084-180238243	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv872577	chr1:180223870-180238243	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2794962	C1orf125	cis	brain	BrainEAC

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180222600-180239200	Weak transcription	Gastric	stomach
2	chr1:180229400-180240400	Weak transcription	Right Atrium	heart
3	chr1:180231000-180257200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:180232200-180242200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:180233600-180237800	Weak transcription	Fetal Brain Female	brain
6	chr1:180233600-180240000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:180234000-180237000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180234200-180237000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:180234200-180241400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:180234400-180243000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:180234600-180239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:180234800-180237400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:180234800-180237400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:180234800-180241400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:180235000-180237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:180235200-180237200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:180235200-180237200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:180235400-180237400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:180235400-180238800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:180235600-180237000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:180235600-180237000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:180235800-180237800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:180235800-180238000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:180236000-180242400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:180236200-180239000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:180236200-180240200	Weak transcription	Fetal Stomach	stomach
27	chr1:180236200-180240200	Weak transcription	Right Ventricle	heart
28	chr1:180236200-180252200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:180236400-180241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:180236400-180241400	Enhancers	HSMMtube	muscle
31	chr1:180236400-180242200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:180236400-180249800	Weak transcription	Hela-S3	cervix
33	chr1:180236600-180236800	Enhancers	Fetal Brain Male	brain
34	chr1:180236600-180236800	Weak transcription	Lung	lung
35	chr1:180236600-180237600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:180236600-180237600	Enhancers	HepG2	liver
37	chr1:180236600-180238000	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:180236600-180238600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:180236600-180242000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:180236600-180243400	Weak transcription	Spleen	Spleen

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