Variant report

Variant	rs6517692
Chromosome Location	chr21:17567074-17567075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:77751904..77752690-chr21:17566657..17567443,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000173894	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1492958	0.82[MEX][hapmap]
rs238975	0.82[MEX][hapmap]
rs239043	1.00[CHD][hapmap]
rs239044	1.00[CHD][hapmap]
rs239077	0.82[MEX][hapmap]
rs2823628	1.00[CHD][hapmap]
rs2823631	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823633	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823730	0.82[MEX][hapmap]
rs2848688	1.00[CHD][hapmap]
rs7282585	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17559000-17571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17563600-17567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:17565400-17570000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr21:17566000-17568000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:17566200-17567400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:17566200-17567600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:17566200-17568400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:17566200-17569200	Active TSS	Fetal Muscle Trunk	muscle
9	chr21:17566200-17569400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:17566200-17569400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:17566200-17569400	Active TSS	Brain Hippocampus Middle	brain
12	chr21:17566200-17569600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:17566200-17569600	Active TSS	Ovary	ovary
14	chr21:17566200-17569600	Active TSS	Psoas Muscle	Psoas
15	chr21:17566200-17569600	Active TSS	GM12878-XiMat	blood
16	chr21:17566200-17569800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:17566200-17569800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:17566200-17569800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:17566200-17569800	Active TSS	Brain Germinal Matrix	brain
20	chr21:17566200-17570000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:17566200-17570000	Active TSS	Right Atrium	heart
22	chr21:17566400-17567200	Flanking Active TSS	NH-A	brain
23	chr21:17566400-17567400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:17566400-17567400	Enhancers	Primary B cells from peripheral blood	blood
25	chr21:17566400-17567600	Active TSS	Left Ventricle	heart
26	chr21:17566400-17567600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr21:17566400-17567800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr21:17566400-17568000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:17566400-17568000	Active TSS	Fetal Intestine Large	intestine
30	chr21:17566400-17568000	Flanking Active TSS	Fetal Lung	lung
31	chr21:17566400-17568200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr21:17566400-17568600	Active TSS	Fetal Thymus	thymus
33	chr21:17566400-17568800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr21:17566400-17569000	Active TSS	Fetal Intestine Small	intestine
35	chr21:17566400-17569200	Active TSS	Liver	Liver
36	chr21:17566400-17569400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:17566400-17569400	Active TSS	Brain Cingulate Gyrus	brain
38	chr21:17566400-17569400	Active TSS	A549	lung
39	chr21:17566400-17569600	Active TSS	Aorta	Aorta
40	chr21:17566400-17569600	Active TSS	Fetal Stomach	stomach
41	chr21:17566400-17569600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr21:17566400-17569600	Active TSS	Hela-S3	cervix
43	chr21:17566400-17569600	Active TSS	HSMMtube	muscle
44	chr21:17566400-17569800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr21:17566400-17569800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:17566400-17569800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:17566400-17569800	Active TSS	Colon Smooth Muscle	Colon
48	chr21:17566400-17569800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr21:17566400-17569800	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr21:17566400-17569800	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links