Variant report

Variant	rs2306122
Chromosome Location	chr1:155028692-155028693
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155028633-155028741	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154954733..154957486-chr1:155027270..155029022,2	MCF-7	breast:
2	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:

Variant related genes	Relation type
ADAM15	TF binding region
ENSG00000143590	Chromatin interaction
ENSG00000160688	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11465207	1.00[MEX][hapmap]
rs12045370	1.00[MEX][hapmap]
rs12569179	1.00[MEX][hapmap]
rs12760148	1.00[MEX][hapmap]
rs1611772	1.00[MEX][hapmap]
rs406141	1.00[MEX][hapmap]

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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv524157	chr1:155026942-155030557	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv872456	chr1:155028692-155035611	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155025000-155034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:155025200-155034000	Weak transcription	NH-A	brain
3	chr1:155025200-155034200	Weak transcription	Psoas Muscle	Psoas
4	chr1:155025200-155034200	Weak transcription	NHDF-Ad	bronchial
5	chr1:155025400-155028800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:155025400-155029000	Weak transcription	Fetal Brain Female	brain
7	chr1:155025400-155034000	Weak transcription	GM12878-XiMat	blood
8	chr1:155025600-155030400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:155025600-155033800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:155025600-155034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:155025800-155031400	Strong transcription	Fetal Intestine Small	intestine
12	chr1:155025800-155031800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr1:155025800-155033600	Strong transcription	A549	lung
14	chr1:155025800-155034000	Strong transcription	Brain Cingulate Gyrus	brain
15	chr1:155026000-155029400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:155026000-155030800	Weak transcription	K562	blood
17	chr1:155026000-155033200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:155026000-155033600	Strong transcription	Brain Substantia Nigra	brain
19	chr1:155026000-155033800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:155026000-155033800	Strong transcription	Fetal Stomach	stomach
21	chr1:155026000-155034200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:155026000-155034200	Weak transcription	Right Atrium	heart
23	chr1:155026200-155029200	Strong transcription	Right Ventricle	heart
24	chr1:155026200-155029600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:155026200-155029600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:155026200-155032600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:155026200-155033000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:155026200-155033200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:155026200-155033400	Strong transcription	HMEC	breast
30	chr1:155026200-155033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:155026200-155033600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:155026200-155033800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:155026200-155033800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:155026200-155033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:155026200-155034000	Weak transcription	Fetal Lung	lung
36	chr1:155026200-155034200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:155026400-155031600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155026400-155031600	Strong transcription	Hela-S3	cervix
39	chr1:155026400-155032600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155026400-155033200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:155026400-155033400	Strong transcription	Gastric	stomach
42	chr1:155026400-155033400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:155026400-155033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:155026400-155033600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:155026400-155033600	Strong transcription	Brain Anterior Caudate	brain
46	chr1:155026400-155033600	Strong transcription	Ovary	ovary
47	chr1:155026400-155033600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:155026400-155033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:155026400-155033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:155026400-155033800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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