Variant report

Variant	rs62017979
Chromosome Location	chr15:40646162-40646163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr15:40646033-40646917	HEK293-T-REx	kidney:	n/a	chr15:40646618-40646627
2	CTCF	chr15:40645969-40647368	SK-N-SH	brain:	n/a	chr15:40646725-40646746 chr15:40646736-40646745 chr15:40646732-40646745 chr15:40646730-40646748
3	SMC3	chr15:40646101-40647262	SK-N-SH	brain:	n/a	chr15:40646732-40646746

No.	Distal block	Cell Line	Cell type
1	chr15:40623144..40625955-chr15:40646055..40647744,2	MCF-7	breast:
2	chr15:40636615..40640420-chr15:40645186..40649108,5	K562	blood:
3	chr15:40641219..40644048-chr15:40645169..40646787,2	K562	blood:

Variant related genes	Relation type
DISP2	TF binding region
ENSG00000233041	Chromatin interaction
ENSG00000252714	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11070266	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62017981	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40636400-40650000	Weak transcription	Right Atrium	heart
2	chr15:40636800-40646200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:40637400-40649600	Weak transcription	Spleen	Spleen
4	chr15:40641400-40646200	Weak transcription	Fetal Heart	heart
5	chr15:40641600-40649600	Weak transcription	Esophagus	oesophagus
6	chr15:40642400-40647000	Active TSS	Rectal Smooth Muscle	rectum
7	chr15:40643000-40646200	Active TSS	Duodenum Mucosa	Duodenum
8	chr15:40643400-40646400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:40643400-40649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:40644200-40647200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr15:40644200-40649800	Weak transcription	Primary T cells from cord blood	blood
12	chr15:40644600-40647000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
13	chr15:40644600-40647200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
14	chr15:40644600-40647600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
15	chr15:40644600-40648800	Enhancers	Fetal Brain Male	brain
16	chr15:40644800-40647000	Enhancers	Liver	Liver
17	chr15:40644800-40647600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:40645000-40646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:40645000-40646200	Weak transcription	Gastric	stomach
20	chr15:40645200-40646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:40645200-40649800	Weak transcription	Small Intestine	intestine
22	chr15:40645400-40646200	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr15:40645400-40647200	Enhancers	Brain Germinal Matrix	brain
24	chr15:40645400-40647200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr15:40645400-40647200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:40645400-40647200	Enhancers	Stomach Mucosa	stomach
27	chr15:40645400-40648400	Enhancers	Fetal Brain Female	brain
28	chr15:40645600-40646600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:40645600-40647000	Enhancers	Brain Hippocampus Middle	brain
30	chr15:40645600-40647000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr15:40645600-40647400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:40645600-40647400	Enhancers	Brain Angular Gyrus	brain
33	chr15:40645600-40649400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:40645800-40646200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr15:40645800-40647000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:40645800-40647000	Enhancers	Adipose Nuclei	Adipose
37	chr15:40645800-40647000	Enhancers	Psoas Muscle	Psoas
38	chr15:40645800-40647000	Enhancers	Right Ventricle	heart
39	chr15:40645800-40647000	Enhancers	HSMM	muscle
40	chr15:40645800-40647000	Enhancers	K562	blood
41	chr15:40645800-40647200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:40645800-40647400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:40645800-40647400	Enhancers	Brain Cingulate Gyrus	brain
44	chr15:40645800-40647400	Enhancers	Brain Substantia Nigra	brain
45	chr15:40645800-40647400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr15:40645800-40647600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr15:40645800-40649800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:40646000-40646200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr15:40646000-40646200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:40646000-40646200	Enhancers	HepG2	liver

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