Variant report

Variant	rs699589
Chromosome Location	chr12:63323319-63323320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63322417..63325278-chr12:63327301..63329815,2	K562	blood:
2	chr12:63321809..63323411-chr12:63325612..63327297,2	K562	blood:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11174725	0.95[EUR][1000 genomes]
rs12230183	0.97[EUR][1000 genomes]
rs3741863	1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4763042	0.97[EUR][1000 genomes]
rs61920303	0.97[EUR][1000 genomes]
rs61920305	0.97[EUR][1000 genomes]
rs7295848	0.95[EUR][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	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	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
3	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63309600-63323400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63312000-63325000	Weak transcription	K562	blood
3	chr12:63313600-63326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:63313800-63327000	Weak transcription	Left Ventricle	heart
5	chr12:63314000-63324800	Weak transcription	Hela-S3	cervix
6	chr12:63314000-63326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:63314000-63327000	Weak transcription	Gastric	stomach
8	chr12:63314200-63327000	Weak transcription	Aorta	Aorta
9	chr12:63316800-63324400	Weak transcription	Osteobl	bone
10	chr12:63317000-63324600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:63317000-63325200	Weak transcription	Fetal Intestine Large	intestine
12	chr12:63317600-63324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63318400-63323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:63319800-63323800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:63320000-63323400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:63320000-63323600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:63320000-63324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:63321800-63325000	Enhancers	HepG2	liver
19	chr12:63321800-63325600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:63322000-63323400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:63322000-63325200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:63322000-63325800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:63322000-63326800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:63322000-63326800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:63322200-63323600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:63322200-63324600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:63322200-63326800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:63322400-63324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63322400-63325800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:63322600-63324200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:63322600-63326800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:63322600-63326800	Weak transcription	Fetal Kidney	kidney
33	chr12:63322800-63323600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:63322800-63323800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:63323000-63323400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:63323000-63324200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:63323200-63324400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:63323200-63325400	Enhancers	Brain Angular Gyrus	brain
39	chr12:63323200-63325800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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