Variant report

Variant	rs2680281
Chromosome Location	chr3:81809315-81809316
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:81784646..81786300-chr3:81807469..81810192,2	MCF-7	breast:
2	chr3:81797341..81800582-chr3:81808703..81810715,3	K562	blood:
3	chr3:81789146..81795604-chr3:81809193..81811958,7	MCF-7	breast:
4	chr3:81807656..81810555-chr3:81826584..81828101,2	MCF-7	breast:
5	chr3:81776057..81778355-chr3:81808798..81811277,2	K562	blood:
6	chr3:81806041..81808024-chr3:81808030..81809607,2	K562	blood:
7	chr3:81532629..81534291-chr3:81807934..81809803,2	MCF-7	breast:
8	chr3:81717239..81719106-chr3:81808947..81811221,2	MCF-7	breast:
9	chr3:81789819..81797196-chr3:81807650..81813820,9	K562	blood:
10	chr3:81807474..81810445-chr3:81824019..81825823,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2316138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680252	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
3	chr3:81793000-81809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:81793800-81810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:81795600-81810000	Weak transcription	Lung	lung
6	chr3:81797400-81809800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:81799400-81809400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:81799800-81809800	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:81800400-81809400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:81800400-81809400	Weak transcription	Brain Angular Gyrus	brain
11	chr3:81800800-81809400	Weak transcription	Brain Substantia Nigra	brain
12	chr3:81803400-81809800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:81804200-81809800	Weak transcription	Esophagus	oesophagus
14	chr3:81805000-81809400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:81805600-81811600	Active TSS	Right Ventricle	heart
16	chr3:81805800-81809600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:81806400-81810000	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr3:81806600-81809600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:81806600-81809800	Weak transcription	Ovary	ovary
20	chr3:81806800-81809600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:81806800-81811000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:81807200-81809400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr3:81807200-81809400	Enhancers	NH-A	brain
24	chr3:81807200-81809600	Weak transcription	Placenta	Placenta
25	chr3:81807600-81810000	Weak transcription	Gastric	stomach
26	chr3:81807800-81811600	Active TSS	Psoas Muscle	Psoas
27	chr3:81808000-81810000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr3:81808000-81811400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:81808200-81810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:81808200-81811000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr3:81808200-81811400	Active TSS	Right Atrium	heart
32	chr3:81808400-81809600	Flanking Active TSS	NHEK	skin
33	chr3:81808400-81810200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:81808400-81811400	Active TSS	Left Ventricle	heart
35	chr3:81808600-81809400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:81808600-81809400	Transcr. at gene 5' and 3'	HMEC	breast
37	chr3:81808600-81809800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:81808600-81809800	Enhancers	Fetal Lung	lung
39	chr3:81808600-81809800	Enhancers	Stomach Mucosa	stomach
40	chr3:81808600-81809800	Flanking Active TSS	HUVEC	blood vessel
41	chr3:81808600-81810000	Enhancers	Small Intestine	intestine
42	chr3:81808600-81810200	Flanking Active TSS	Osteobl	bone
43	chr3:81808800-81809400	Enhancers	Primary T cells from cord blood	blood
44	chr3:81808800-81809400	Enhancers	Primary hematopoietic stem cells	blood
45	chr3:81808800-81809600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:81808800-81809600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:81808800-81809600	Weak transcription	Fetal Kidney	kidney
48	chr3:81808800-81809800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:81808800-81811000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr3:81808800-81811000	Active TSS	HSMMtube	muscle

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