Variant report

Variant	rs13232623
Chromosome Location	chr7:101497449-101497450
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101457659..101461443-chr7:101493217..101497871,6	MCF-7	breast:
2	chr7:101455967..101463882-chr7:101497000..101502046,12	K562	blood:
3	chr7:101458410..101460758-chr7:101496276..101497837,2	MCF-7	breast:
4	chr7:101478135..101485394-chr7:101496220..101502463,10	K562	blood:
5	chr7:101492252..101496908-chr7:101497174..101502895,8	K562	blood:
6	chr7:101456928..101460439-chr7:101497000..101502046,10	K562	blood:
7	chr7:101495343..101497558-chr7:101508444..101510099,2	MCF-7	breast:
8	chr7:101466881..101469385-chr7:101495736..101498115,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259294	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12532064	0.82[EUR][1000 genomes]
rs13221682	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13238593	1.00[CEU][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs2906652	1.00[CEU][hapmap]
rs35151674	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35353051	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779056	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71559433	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71559435	0.82[EUR][1000 genomes]
rs868416	0.81[AMR][1000 genomes];0.93[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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv526147	chr7:101496391-101497449	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:101476200-101500000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:101490000-101498400	Weak transcription	Right Ventricle	heart
4	chr7:101490200-101498600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:101490800-101498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:101490800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:101490800-101498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:101490800-101498800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:101490800-101499200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:101490800-101499400	Weak transcription	Fetal Lung	lung
11	chr7:101490800-101499400	Weak transcription	Hela-S3	cervix
12	chr7:101490800-101499400	Weak transcription	Osteobl	bone
13	chr7:101490800-101499600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:101490800-101499600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:101490800-101499600	Weak transcription	HSMMtube	muscle
16	chr7:101491000-101499200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:101491000-101499400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:101491000-101499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:101491000-101499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:101491800-101499400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:101491800-101499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:101492000-101497800	Weak transcription	A549	lung
23	chr7:101492000-101499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:101492000-101499600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:101492200-101499200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:101492200-101499800	Weak transcription	Psoas Muscle	Psoas
27	chr7:101492400-101498600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:101492600-101498200	Weak transcription	Colonic Mucosa	Colon
29	chr7:101492600-101499200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:101493000-101497600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:101494800-101498400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:101494800-101499600	Weak transcription	Pancreas	Pancrea
33	chr7:101495000-101497600	Weak transcription	Fetal Intestine Small	intestine
34	chr7:101495000-101501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:101495800-101499200	Weak transcription	Fetal Stomach	stomach
36	chr7:101496000-101499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:101496400-101498800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:101496400-101498800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:101496400-101499000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:101496400-101499200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:101496400-101499200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:101496400-101499600	Enhancers	Dnd41	blood
43	chr7:101496400-101499800	Enhancers	Thymus	Thymus
44	chr7:101496600-101499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:101496600-101499800	Enhancers	Fetal Thymus	thymus
46	chr7:101496800-101497600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:101496800-101498600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:101496800-101499200	Enhancers	K562	blood
49	chr7:101497000-101497600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:101497000-101497600	Weak transcription	Primary B cells from cord blood	blood

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