Variant report

Variant	rs699578
Chromosome Location	chr12:63299095-63299096
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: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	chr12:63298026..63301472-chr12:63301744..63306217,4	K562	blood:
2	chr12:63298668..63300990-chr12:63326822..63328965,2	MCF-7	breast:
3	chr12:63285383..63287251-chr12:63297837..63299598,2	MCF-7	breast:
4	chr12:63299073..63301932-chr12:63304667..63306675,2	K562	blood:
5	chr12:63298722..63300428-chr12:63300794..63302294,2	MCF-7	breast:
6	chr12:63293103..63295682-chr12:63297040..63300523,3	MCF-7	breast:
7	chr12:63293376..63296810-chr12:63296910..63300842,4	MCF-7	breast:
8	chr12:63297848..63300168-chr12:63310835..63312662,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs699576	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs699581	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs771987	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs771989	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs772558	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs772562	0.80[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs772564	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs772570	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs772571	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs814009	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63287400-63309000	Weak transcription	Pancreas	Pancrea
2	chr12:63287800-63316400	Weak transcription	Fetal Intestine Small	intestine
3	chr12:63289600-63306600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:63292800-63311600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:63295000-63303800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:63295600-63299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:63295800-63303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:63296200-63299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:63296400-63307200	Weak transcription	Left Ventricle	heart
10	chr12:63297200-63299600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:63297200-63300000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:63297200-63301000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:63297200-63302400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:63297200-63303800	Weak transcription	HepG2	liver
15	chr12:63297400-63299200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:63297400-63299600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:63297400-63301200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:63297400-63309600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:63298000-63301000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:63298200-63301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:63298400-63301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:63298400-63301000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:63298400-63301600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:63299000-63300400	Enhancers	K562	blood
25	chr12:63299000-63301600	Enhancers	Brain Inferior Temporal Lobe	brain

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