Variant report

Variant	rs523977
Chromosome Location	chr12:121569125-121569126
allele	A/G
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	REST	chr12:121568874-121569134	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr12:121568775-121569203	HL-60	blood:	n/a	n/a
3	REST	chr12:121568871-121569145	K562	blood:	n/a	n/a
4	REST	chr12:121568835-121569218	ECC-1	luminal epithelium:	n/a	n/a
5	REST	chr12:121568847-121569220	ECC-1	luminal epithelium:	n/a	n/a
6	REST	chr12:121568758-121569165	PFSK-1	brain:	n/a	n/a
7	REST	chr12:121568858-121569170	PFSK-1	brain:	n/a	n/a
8	REST	chr12:121568824-121569231	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121550877..121553101-chr12:121566808..121569789,2	MCF-7	breast:

Variant related genes	Relation type
P2RX7	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11065434	0.83[AMR][1000 genomes]
rs11065450	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180015	0.80[AMR][1000 genomes]
rs1185268	0.80[AMR][1000 genomes]
rs1794897	0.80[AMR][1000 genomes]
rs1796422	0.80[AMR][1000 genomes]
rs208277	0.83[AMR][1000 genomes]
rs208280	0.81[AMR][1000 genomes]
rs2116499	0.96[ASN][1000 genomes]
rs2393799	0.84[AMR][1000 genomes]
rs2686352	0.83[AMR][1000 genomes]
rs520396	1.00[ASN][1000 genomes]
rs550066	0.98[ASN][1000 genomes]
rs570984	0.83[AMR][1000 genomes]
rs575572	0.83[AMR][1000 genomes]
rs582315	0.83[AMR][1000 genomes]
rs585349	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs591874	0.83[AMR][1000 genomes]
rs615434	0.99[ASN][1000 genomes]
rs636719	0.83[AMR][1000 genomes]
rs665794	0.83[AMR][1000 genomes]
rs676262	0.83[AMR][1000 genomes]
rs677112	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs685019	0.83[AMR][1000 genomes]
rs7309886	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:121562800-121569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121562800-121570400	Weak transcription	Ovary	ovary
4	chr12:121563000-121569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:121565200-121569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:121565800-121570600	Enhancers	Placenta	Placenta
8	chr12:121566600-121570200	Weak transcription	Small Intestine	intestine
9	chr12:121566800-121570400	Weak transcription	Gastric	stomach
10	chr12:121567000-121570200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:121567200-121569800	Weak transcription	NHEK	skin
12	chr12:121567200-121570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121567200-121570400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:121567200-121570400	Weak transcription	Fetal Lung	lung
15	chr12:121567200-121570400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:121567200-121570400	Weak transcription	HMEC	breast
17	chr12:121567400-121570400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:121567400-121570400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:121567400-121570400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:121567600-121569400	Weak transcription	K562	blood
21	chr12:121567600-121569600	Weak transcription	HUVEC	blood vessel
22	chr12:121567600-121569800	Enhancers	Brain Angular Gyrus	brain
23	chr12:121567600-121569800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:121567600-121570000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:121567600-121570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:121567600-121570000	Enhancers	Brain Substantia Nigra	brain
27	chr12:121567600-121570200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:121567600-121570200	Weak transcription	Fetal Heart	heart
29	chr12:121567600-121570200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:121567600-121570200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:121567600-121570400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:121567600-121570400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:121567600-121570400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:121567600-121570400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr12:121567600-121570400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:121567600-121570400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:121567600-121570400	Weak transcription	Psoas Muscle	Psoas
38	chr12:121567600-121570400	Weak transcription	Right Atrium	heart
39	chr12:121567600-121570400	Weak transcription	Right Ventricle	heart
40	chr12:121567600-121570400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:121567600-121570400	Weak transcription	Stomach Mucosa	stomach
42	chr12:121567600-121570400	Weak transcription	NHDF-Ad	bronchial
43	chr12:121567600-121570600	Enhancers	Primary hematopoietic stem cells	blood
44	chr12:121567600-121570600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:121567600-121570600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:121567800-121569600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:121567800-121569800	Enhancers	Brain Anterior Caudate	brain
48	chr12:121567800-121569800	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:121567800-121570000	Enhancers	Brain Hippocampus Middle	brain
50	chr12:121567800-121570200	Weak transcription	Adipose Nuclei	Adipose

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