Variant report

Variant	rs62017981
Chromosome Location	chr15:40648610-40648611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40636615..40640420-chr15:40645186..40649108,5	K562	blood:
2	chr15:40641840..40644016-chr15:40647605..40650269,2	K562	blood:
3	chr15:40646801..40650118-chr15:40732469..40735250,3	K562	blood:

Variant related genes	Relation type
ENSG00000233041	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11070266	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630119	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17670745	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34230187	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61654142	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62017979	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62017984	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62017985	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62018001	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62018002	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72733420	0.93[AMR][1000 genomes];0.85[EUR][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	chr15:40637400-40649600	Weak transcription	Spleen	Spleen
3	chr15:40641600-40649600	Weak transcription	Esophagus	oesophagus
4	chr15:40643400-40649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:40644200-40649800	Weak transcription	Primary T cells from cord blood	blood
6	chr15:40644600-40648800	Enhancers	Fetal Brain Male	brain
7	chr15:40645200-40649800	Weak transcription	Small Intestine	intestine
8	chr15:40645600-40649400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:40645800-40649800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:40646600-40649800	Weak transcription	A549	lung
11	chr15:40646800-40649600	Genic enhancers	Fetal Intestine Large	intestine
12	chr15:40646800-40649800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:40646800-40649800	Weak transcription	Pancreas	Pancrea
14	chr15:40647000-40649000	Genic enhancers	Colonic Mucosa	Colon
15	chr15:40647000-40649200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:40647000-40649600	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:40647000-40649800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:40647000-40649800	Weak transcription	Liver	Liver
19	chr15:40647000-40649800	Weak transcription	Placenta	Placenta
20	chr15:40647000-40649800	Weak transcription	Right Ventricle	heart
21	chr15:40647000-40649800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:40647000-40649800	Weak transcription	HSMMtube	muscle
23	chr15:40647000-40649800	Weak transcription	K562	blood
24	chr15:40647000-40649800	Weak transcription	Osteobl	bone
25	chr15:40647000-40650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:40647000-40650000	Weak transcription	Gastric	stomach
27	chr15:40647000-40650000	Weak transcription	Psoas Muscle	Psoas
28	chr15:40647000-40650000	Weak transcription	HSMM	muscle
29	chr15:40647200-40648800	Weak transcription	Stomach Mucosa	stomach
30	chr15:40647200-40649200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:40647200-40649200	Weak transcription	Dnd41	blood
32	chr15:40647200-40649400	Weak transcription	Brain Anterior Caudate	brain
33	chr15:40647200-40649400	Genic enhancers	Rectal Mucosa Donor 31	rectum
34	chr15:40647200-40649600	Weak transcription	Brain Germinal Matrix	brain
35	chr15:40647200-40649600	Weak transcription	Fetal Heart	heart
36	chr15:40647200-40649600	Weak transcription	Lung	lung
37	chr15:40647200-40649800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:40647200-40649800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:40647200-40649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:40647200-40649800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:40647200-40649800	Genic enhancers	Fetal Intestine Small	intestine
42	chr15:40647200-40649800	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:40647200-40649800	Weak transcription	Fetal Stomach	stomach
44	chr15:40647200-40649800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:40647200-40649800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:40647200-40649800	Weak transcription	NH-A	brain
47	chr15:40647200-40650000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:40647400-40649400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:40647400-40649400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:40647400-40649600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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