Variant report

Variant	rs12530811
Chromosome Location	chr7:5434988-5434989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5434488..5436637-chr7:5491001..5493945,3	K562	blood:
2	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
3	chr7:5425693..5431327-chr7:5431953..5435253,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234432	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000182095	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11763573	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234174	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724668	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055803	1.00[ASN][1000 genomes]
rs7781531	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv823996	chr7:5285503-5465988	Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
8	nsv887397	chr7:5315557-5450031	Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
10	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
11	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv887400	chr7:5393243-5441337	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	nsv887403	chr7:5399044-5450031	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
17	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
18	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
19	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription 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 miRNA target site	336 gene(s)	inside rSNPs	diseases
20	esv1817740	chr7:5427128-5436368	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
22	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5413600-5435000	Weak transcription	HSMM	muscle
2	chr7:5423200-5435200	Strong transcription	Fetal Intestine Large	intestine
3	chr7:5423200-5436400	Weak transcription	Right Atrium	heart
4	chr7:5423400-5436400	Strong transcription	Fetal Intestine Small	intestine
5	chr7:5423400-5436400	Weak transcription	Psoas Muscle	Psoas
6	chr7:5423600-5443600	Weak transcription	Fetal Brain Male	brain
7	chr7:5424000-5437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:5424400-5439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:5424800-5435400	Strong transcription	Fetal Muscle Leg	muscle
10	chr7:5424800-5436200	Strong transcription	Fetal Stomach	stomach
11	chr7:5424800-5447000	Weak transcription	Fetal Heart	heart
12	chr7:5425800-5435000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:5425800-5436200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:5425800-5447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:5426000-5435000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:5426000-5435000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:5426000-5444200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:5426800-5435000	Strong transcription	Right Ventricle	heart
19	chr7:5427000-5446800	Weak transcription	NH-A	brain
20	chr7:5427400-5435000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:5427400-5437400	Weak transcription	K562	blood
22	chr7:5427400-5445600	Weak transcription	Fetal Kidney	kidney
23	chr7:5427600-5442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:5429000-5437000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:5429200-5444400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:5429600-5435000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr7:5429600-5435200	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr7:5430000-5435000	Strong transcription	Osteobl	bone
29	chr7:5431000-5436600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:5431600-5435200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:5432800-5435000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:5433200-5445200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:5433400-5435400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:5433400-5436200	Weak transcription	Small Intestine	intestine
35	chr7:5433600-5435400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:5433800-5435000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr7:5433800-5435200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:5433800-5435200	Genic enhancers	Spleen	Spleen
39	chr7:5433800-5436000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:5433800-5436200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:5433800-5437400	Weak transcription	Brain Substantia Nigra	brain
42	chr7:5434000-5435000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:5434000-5435000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:5434000-5435000	Weak transcription	Fetal Thymus	thymus
45	chr7:5434000-5435000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:5434000-5435400	Enhancers	Primary B cells from cord blood	blood
47	chr7:5434000-5435600	Enhancers	Brain Hippocampus Middle	brain
48	chr7:5434000-5436000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:5434000-5436000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:5434000-5436000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links