Variant report

Variant	rs35927125
Chromosome Location	chr2:10186419-10186420
allele	A/C/G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10116612..10118624-chr2:10184791..10186448,2	MCF-7	breast:
2	chr2:10186250..10188178-chr2:10194209..10197093,2	K562	blood:
3	chr2:10181485..10190041-chr2:10258160..10265104,19	K562	blood:
4	chr2:9999348..10001334-chr2:10185106..10187713,2	K562	blood:
5	chr2:9910558..9913108-chr2:10185637..10189105,3	MCF-7	breast:
6	chr2:10181815..10186886-chr2:10257895..10263826,12	K562	blood:
7	chr2:10186083..10188945-chr2:10191808..10193991,2	K562	blood:
8	chr2:9939649..9941498-chr2:10185709..10187949,2	K562	blood:
9	chr2:10186093..10191010-chr2:10234656..10237838,4	K562	blood:
10	chr2:10182079..10187309-chr2:10193090..10195728,5	MCF-7	breast:
11	chr2:10146007..10148498-chr2:10184659..10186474,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000188525	Chromatin interaction
ENSG00000271787	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs12468621	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs4444493	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs4669559	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]
rs7601478	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv828308	chr2:10175525-10200328	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35927125	RP11-254F7.2	cis	Whole Blood	GTEx
rs35927125	RP11-254F7.2	cis	lung	GTEx
rs35927125	RP11-254F7.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10183000-10197000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10183200-10192400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:10184600-10187400	Weak transcription	Gastric	stomach
4	chr2:10184600-10196600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:10184800-10187200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:10184800-10187200	Weak transcription	NHLF	lung
7	chr2:10184800-10187800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:10184800-10188000	Weak transcription	Osteobl	bone
9	chr2:10184800-10188600	Weak transcription	Stomach Mucosa	stomach
10	chr2:10184800-10192200	Weak transcription	HSMM	muscle
11	chr2:10184800-10192400	Weak transcription	HSMMtube	muscle
12	chr2:10184800-10193400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:10184800-10195800	Weak transcription	Small Intestine	intestine
14	chr2:10184800-10196400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:10184800-10197200	Weak transcription	NH-A	brain
16	chr2:10185000-10186600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr2:10185000-10187200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:10185000-10187200	Weak transcription	Fetal Brain Female	brain
19	chr2:10185000-10187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:10185000-10187600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:10185000-10187800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:10185000-10187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10185000-10187800	Weak transcription	NHEK	skin
24	chr2:10185000-10188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:10185000-10188000	Weak transcription	Brain Angular Gyrus	brain
26	chr2:10185000-10188000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:10185000-10188000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:10185000-10188000	Weak transcription	HMEC	breast
29	chr2:10185000-10188000	Weak transcription	HUVEC	blood vessel
30	chr2:10185000-10188200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:10185000-10188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:10185000-10188600	Weak transcription	Fetal Heart	heart
33	chr2:10185000-10188800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:10185000-10189200	Weak transcription	Fetal Kidney	kidney
35	chr2:10185000-10193000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:10185000-10195400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:10185000-10200400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:10185200-10187200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:10185200-10187200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:10185200-10187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:10185200-10187400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:10185200-10187800	Weak transcription	Primary B cells from cord blood	blood
43	chr2:10185200-10187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:10185200-10187800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:10185200-10188000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:10185200-10188400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:10185200-10188400	Weak transcription	Colonic Mucosa	Colon
48	chr2:10185200-10188400	Weak transcription	Fetal Brain Male	brain
49	chr2:10185200-10192400	Weak transcription	Primary T cells from cord blood	blood
50	chr2:10185200-10195400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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