Variant report

Variant	rs12698824
Chromosome Location	chr7:69418916-69418917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12698818	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698821	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698823	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698827	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698828	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698829	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12698831	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698832	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12698833	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698863	0.81[ASN][1000 genomes]
rs13221186	0.81[ASN][1000 genomes]
rs13221694	0.84[ASN][1000 genomes]
rs13224557	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13228686	0.84[ASN][1000 genomes]
rs13229256	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13238398	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785360	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69404600-69427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:69411000-69426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:69414800-69423400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:69415000-69427200	Weak transcription	Fetal Kidney	kidney
5	chr7:69415800-69422800	Weak transcription	Left Ventricle	heart
6	chr7:69416200-69420800	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:69416400-69424000	Enhancers	Fetal Thymus	thymus
8	chr7:69417200-69419000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:69417200-69420800	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:69417200-69421800	Enhancers	Thymus	Thymus
11	chr7:69417600-69419800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:69417800-69419200	Flanking Active TSS	Dnd41	blood
13	chr7:69417800-69419600	Enhancers	Fetal Lung	lung
14	chr7:69417800-69419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:69418000-69419000	Enhancers	HSMMtube	muscle
16	chr7:69418000-69419400	Enhancers	Brain Germinal Matrix	brain
17	chr7:69418000-69419600	Enhancers	Fetal Stomach	stomach
18	chr7:69418000-69419800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:69418000-69420400	Enhancers	Fetal Heart	heart
20	chr7:69418000-69427000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:69418200-69419000	Enhancers	Right Ventricle	heart
22	chr7:69418200-69419000	Enhancers	Small Intestine	intestine
23	chr7:69418200-69419600	Enhancers	Psoas Muscle	Psoas
24	chr7:69418200-69419800	Enhancers	Fetal Muscle Leg	muscle
25	chr7:69418200-69424800	Weak transcription	Fetal Brain Female	brain
26	chr7:69418400-69419000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:69418400-69422800	Weak transcription	Right Atrium	heart
28	chr7:69418400-69424800	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:69418600-69419000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:69418600-69419400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:69418600-69419400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:69418600-69421400	Enhancers	Primary T cells from cord blood	blood
33	chr7:69418600-69426800	Weak transcription	Brain Angular Gyrus	brain
34	chr7:69418600-69427000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:69418800-69419000	Flanking Active TSS	GM12878-XiMat	blood
36	chr7:69418800-69419200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr7:69418800-69419600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:69418800-69419600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:69418800-69419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:69418800-69422800	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:69418800-69426800	Weak transcription	Brain Anterior Caudate	brain

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