Variant report

Variant	rs12532064
Chromosome Location	chr7:101524137-101524138
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101504130..101505908-chr7:101523643..101526336,2	K562	blood:
2	chr7:101498337..101501092-chr7:101523360..101525337,2	K562	blood:
3	chr7:101523069..101525610-chr7:101617549..101619285,2	MCF-7	breast:
4	chr7:101522402..101527695-chr7:101541882..101547914,5	MCF-7	breast:
5	chr7:101512083..101520283-chr7:101521327..101527237,12	K562	blood:
6	chr7:101512988..101516254-chr7:101522807..101526538,9	MCF-7	breast:
7	chr7:101500324..101500893-chr7:101523934..101524868,2	K562	blood:
8	chr10:5588202..5590843-chr7:101522769..101524342,2	MCF-7	breast:
9	chr7:101456951..101464631-chr7:101524079..101528885,15	MCF-7	breast:
10	chr7:101498337..101502406-chr7:101523360..101525757,3	K562	blood:
11	chr7:101504130..101506941-chr7:101522541..101527065,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13221682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13232623	0.82[EUR][1000 genomes]
rs13238593	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35353051	0.82[EUR][1000 genomes]
rs71559433	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71559435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:101513600-101525200	Weak transcription	Spleen	Spleen
3	chr7:101514400-101527400	Weak transcription	GM12878-XiMat	blood
4	chr7:101514800-101525200	Weak transcription	Esophagus	oesophagus
5	chr7:101514800-101525400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:101518400-101526000	Weak transcription	Dnd41	blood
7	chr7:101519000-101524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:101519000-101525800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:101519000-101525800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:101519000-101525800	Weak transcription	Ovary	ovary
11	chr7:101519400-101525600	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:101519400-101525800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:101520200-101524600	Enhancers	A549	lung
14	chr7:101521200-101524800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:101521200-101526000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:101521200-101526200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr7:101521200-101526400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:101521200-101526400	Enhancers	Left Ventricle	heart
19	chr7:101521200-101526600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:101521200-101526800	Enhancers	Fetal Intestine Large	intestine
21	chr7:101521200-101527000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:101521200-101527600	Enhancers	Placenta	Placenta
23	chr7:101521200-101528800	Enhancers	Fetal Heart	heart
24	chr7:101521400-101526000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:101521600-101527600	Weak transcription	Gastric	stomach
26	chr7:101521800-101527000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:101522000-101525600	Enhancers	Fetal Thymus	thymus
28	chr7:101522200-101524200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:101522200-101524200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:101522200-101525400	Enhancers	HepG2	liver
31	chr7:101522400-101524400	Enhancers	Fetal Muscle Leg	muscle
32	chr7:101522400-101524400	Enhancers	Thymus	Thymus
33	chr7:101522400-101524800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:101522400-101525200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr7:101522400-101525800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:101522400-101526200	Enhancers	Psoas Muscle	Psoas
37	chr7:101522400-101526600	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:101522600-101524400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:101522600-101524600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:101522600-101525600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:101522600-101525800	Enhancers	Liver	Liver
42	chr7:101522800-101525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:101522800-101525600	Enhancers	Colon Smooth Muscle	Colon
44	chr7:101522800-101526400	Enhancers	Right Atrium	heart
45	chr7:101523000-101524600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:101523000-101524600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:101523000-101526200	Enhancers	Pancreas	Pancrea
48	chr7:101523000-101526800	Enhancers	Brain Germinal Matrix	brain
49	chr7:101523000-101527000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:101523200-101524800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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