Variant report

Variant	rs12532926
Chromosome Location	chr7:116570738-116570739
allele	C/G
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116570648..116573225-chr7:116591473..116596251,5	K562	blood:
2	chr7:116570171..116571182-chr7:116652604..116653376,5	K562	blood:
3	chr7:116570148..116571132-chr7:116852812..116853758,4	K562	blood:
4	chr7:116570547..116571325-chr7:116759326..116759935,3	MCF-7	breast:
5	chr7:116569154..116573118-chr7:116592518..116595104,9	MCF-7	breast:
6	chr7:116570128..116571717-chr7:116758838..116760182,19	K562	blood:
7	chr7:116569093..116573225-chr7:116592050..116596557,6	K562	blood:
8	chr7:116570554..116571105-chr7:116628097..116628835,2	K562	blood:
9	7:115847372-115857098..7:116568602-116574330	GM12878	blood:
10	chr7:116570597..116571199-chr7:116588971..116589553,2	K562	blood:
11	chr7:116569475..116571657-chr7:116592884..116594472,2	MCF-7	breast:
12	chr7:116567075..116568820-chr7:116569252..116572115,2	MCF-7	breast:
13	chr7:116570194..116571338-chr7:116767371..116768123,3	MCF-7	breast:
14	chr7:116570010..116572826-chr7:116583507..116585407,2	K562	blood:
15	chr7:115778002..115778876-chr7:116570600..116571133,2	K562	blood:
16	chr7:116569687..116574376-chr7:116579850..116586721,6	K562	blood:
17	chr7:116557404..116561072-chr7:116567108..116571328,4	K562	blood:
18	chr7:116570189..116571088-chr7:116764532..116765333,2	K562	blood:
19	chr7:116569534..116572103-chr7:116572304..116574237,2	K562	blood:
20	chr7:116569093..116572141-chr7:116765850..116768047,3	K562	blood:
21	7:116568602-116574330..7:116957165-116964911	H1-hESC	embryonic stem cell:	embryo
22	chr7:116570164..116571206-chr7:116758946..116760107,5	MCF-7	breast:
23	chr7:116570123..116571416-chr7:116767082..116768498,17	K562	blood:
24	7:116568602-116574330..7:116754962-116765597	GM12878	blood:
25	7:116568602-116574330..7:116651084-116657331	GM12878	blood:
26	chr7:116569834..116572713-chr7:116615771..116619319,3	MCF-7	breast:
27	chr7:116570499..116571103-chr7:116652412..116652980,2	MCF-7	breast:
28	7:116568602-116574330..7:116728195-116740907	GM12878	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-1	chr7:116570565-116570828	FPKM1_group_30214_transcript_1

No data

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000105989	Chromatin interaction
ENSG00000222150	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000226367	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10953831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229091	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7804499	0.93[EUR][1000 genomes]
rs7804651	0.87[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv366350	chr7:116569927-116573535	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116557000-116570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:116557000-116570800	Weak transcription	NHEK	skin
3	chr7:116558000-116570800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:116558200-116570800	Weak transcription	HMEC	breast
5	chr7:116558400-116570800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:116559200-116576000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:116559600-116570800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:116559600-116570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:116559600-116570800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:116568600-116571400	Enhancers	Fetal Brain Male	brain
11	chr7:116570200-116571000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:116570200-116571000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:116570200-116571000	Enhancers	Placenta	Placenta
14	chr7:116570200-116571200	Flanking Active TSS	HepG2	liver
15	chr7:116570400-116570800	Flanking Active TSS	K562	blood
16	chr7:116570400-116570800	Active TSS	Osteobl	bone
17	chr7:116570400-116571000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:116570400-116571000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:116570400-116571000	Active TSS	Brain Hippocampus Middle	brain
20	chr7:116570400-116571000	Enhancers	Fetal Lung	lung
21	chr7:116570400-116571000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:116570400-116571000	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr7:116570400-116571000	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:116570400-116571000	Enhancers	Dnd41	blood
25	chr7:116570400-116571000	Enhancers	NH-A	brain
26	chr7:116570400-116571200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:116570600-116570800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:116570600-116570800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:116570600-116570800	Active TSS	Brain Angular Gyrus	brain
30	chr7:116570600-116570800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr7:116570600-116570800	Active TSS	Brain Cingulate Gyrus	brain
32	chr7:116570600-116570800	Active TSS	Brain Substantia Nigra	brain
33	chr7:116570600-116570800	Enhancers	Fetal Intestine Small	intestine
34	chr7:116570600-116570800	Bivalent Enhancer	Fetal Stomach	stomach
35	chr7:116570600-116570800	Enhancers	Gastric	stomach
36	chr7:116570600-116570800	Enhancers	Lung	lung
37	chr7:116570600-116570800	Enhancers	Right Atrium	heart
38	chr7:116570600-116570800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr7:116570600-116570800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:116570600-116570800	Enhancers	HUVEC	blood vessel
41	chr7:116570600-116571000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:116570600-116571000	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:116570600-116571000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr7:116570600-116571000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:116570600-116571000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:116570600-116571000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr7:116570600-116571000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:116570600-116571000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:116570600-116571000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:116570600-116571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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