Variant report

Variant	rs12533541
Chromosome Location	chr7:128983221-128983222
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128858102..128859038-chr7:128983045..128983580,2	K562	blood:
2	chr7:128982143..128983570-chr7:129015770..129017016,4	K562	blood:
3	chr7:128982855..128983578-chr7:129010405..129011207,3	MCF-7	breast:
4	chr7:128982637..128983529-chr7:129111824..129112749,5	K562	blood:
5	chr7:128982386..128983886-chr7:129016195..129016993,6	MCF-7	breast:
6	chr7:128982663..128983472-chr7:129111736..129112397,2	MCF-7	breast:
7	chr7:128982645..128983957-chr7:129275105..129276110,6	K562	blood:
8	chr7:128976778..128978294-chr7:128981817..128983573,2	K562	blood:
9	chr7:128983075..128983596-chr7:129073345..129074183,2	MCF-7	breast:
10	chr7:128983034..128983886-chr7:129469504..129470107,2	K562	blood:
11	chr7:128982680..128983639-chr7:129284199..129284830,3	K562	blood:
12	chr7:128982814..128983603-chr7:129111827..129112905,5	MCF-7	breast:

No data

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10224011	1.00[ASN][1000 genomes]
rs10954227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402951	1.00[ASN][1000 genomes]
rs2566878	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2566879	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2566884	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2566887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694578	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2694586	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694589	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694590	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703097	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718094	0.88[AFR][1000 genomes]
rs2718098	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517061	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731570	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467244	1.00[ASN][1000 genomes]
rs6969620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779572	1.00[ASN][1000 genomes]
rs7787531	0.82[ASN][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	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv608419	chr7:128980494-128996268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128965200-128984200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:128965400-128994600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:128965800-128995800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:128972800-128984000	Weak transcription	HSMMtube	muscle
5	chr7:128972800-128984200	Weak transcription	HSMM	muscle
6	chr7:128973200-128984000	Weak transcription	NHEK	skin
7	chr7:128973400-128991000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:128975000-129002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:128979600-128985800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:128979600-128991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128980800-128983400	Enhancers	Fetal Intestine Large	intestine
12	chr7:128980800-128983400	Enhancers	Fetal Intestine Small	intestine
13	chr7:128981000-128984600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:128981400-128991200	Weak transcription	A549	lung
15	chr7:128981600-128984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:128981600-128984600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:128981600-128992000	Weak transcription	Primary T cells from cord blood	blood
18	chr7:128981600-128994400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:128981600-128995400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:128981600-128999200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:128981800-128994600	Weak transcription	Brain Anterior Caudate	brain
22	chr7:128982000-128984000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:128982000-128984200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:128982000-128993400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:128982200-128983400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:128982200-128987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:128982200-128991200	Weak transcription	Stomach Mucosa	stomach
28	chr7:128982400-128984000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:128982600-128984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:128982600-128984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:128982800-128983400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:128982800-128991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:128983000-128987000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:128983200-128983400	Enhancers	Brain Angular Gyrus	brain
35	chr7:128983200-128983600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:128983200-128984000	Enhancers	GM12878-XiMat	blood
37	chr7:128983200-128984600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:128983200-128984600	Enhancers	Osteobl	bone
39	chr7:128983200-128984800	Enhancers	K562	blood

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