Variant report

Variant	rs12072566
Chromosome Location	chr1:46632222-46632223
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46622822..46627541-chr1:46631792..46634999,5	K562	blood:
2	chr1:46624121..46627541-chr1:46631792..46634999,3	K562	blood:
3	chr1:46590920..46606215-chr1:46630948..46642525,66	MCF-7	breast:
4	chr1:46630846..46632404-chr1:46635981..46638710,2	K562	blood:

Variant related genes	Relation type
ENSG00000117461	Chromatin interaction
ENSG00000227857	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11211256	1.00[AMR][1000 genomes]
rs12093586	1.00[AMR][1000 genomes]
rs41292143	1.00[AMR][1000 genomes]
rs55867821	1.00[AMR][1000 genomes]
rs72897003	1.00[AMR][1000 genomes]
rs72897033	1.00[AMR][1000 genomes]
rs74072314	1.00[AMR][1000 genomes]
rs9782966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	esv2754420	chr1:46461580-46635180	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers 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
9	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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
10	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46630600-46632600	Weak transcription	Placenta	Placenta
2	chr1:46631800-46632400	Enhancers	Liver	Liver
3	chr1:46631800-46633400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:46632000-46632400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr1:46632000-46632400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr1:46632000-46632400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:46632000-46632400	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr1:46632000-46632400	Flanking Active TSS	Thymus	Thymus
9	chr1:46632000-46632400	Enhancers	Spleen	Spleen
10	chr1:46632000-46632600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr1:46632000-46632800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:46632000-46633000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:46632000-46633000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr1:46632000-46633000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:46632000-46633000	Active TSS	Primary T cells from cord blood	blood
16	chr1:46632000-46633200	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr1:46632000-46633200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:46632200-46632400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
19	chr1:46632200-46632400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr1:46632200-46632400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:46632200-46632400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:46632200-46632400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr1:46632200-46632400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr1:46632200-46632400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:46632200-46632400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:46632200-46632400	Active TSS	Brain Anterior Caudate	brain
27	chr1:46632200-46632400	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr1:46632200-46632400	Enhancers	Fetal Brain Female	brain
29	chr1:46632200-46632400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr1:46632200-46632400	Active TSS	Fetal Lung	lung
31	chr1:46632200-46632400	Enhancers	Gastric	stomach
32	chr1:46632200-46632400	Enhancers	Left Ventricle	heart
33	chr1:46632200-46632400	Enhancers	Lung	lung
34	chr1:46632200-46632400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr1:46632200-46632400	Enhancers	K562	blood
36	chr1:46632200-46632400	Bivalent Enhancer	NH-A	brain
37	chr1:46632200-46632600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:46632200-46632600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr1:46632200-46632600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr1:46632200-46632600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:46632200-46632600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:46632200-46632600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:46632200-46632600	Flanking Active TSS	Colonic Mucosa	Colon
44	chr1:46632200-46632600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:46632200-46632600	Flanking Active TSS	Esophagus	oesophagus
46	chr1:46632200-46632600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr1:46632200-46632600	Enhancers	Pancreas	Pancrea
48	chr1:46632200-46632600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr1:46632200-46632600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
50	chr1:46632200-46632600	Bivalent Enhancer	NHLF	lung

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