Variant report

Variant	rs16985605
Chromosome Location	chr20:23606393-23606394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23603693..23605548-chr20:23605615..23607306,2	MCF-7	breast:
2	chr20:23605616..23608298-chr20:23618129..23620935,3	MCF-7	breast:
3	chr20:23606151..23608595-chr20:23610355..23612719,2	K562	blood:
4	chr20:23604645..23607070-chr20:23613987..23616956,2	K562	blood:
5	chr20:23606151..23607928-chr20:23610355..23613024,2	K562	blood:

Variant related genes	Relation type
ENSG00000270001	Chromatin interaction
ENSG00000101439	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57526954	0.90[AFR][1000 genomes]
rs60014744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60569976	0.90[AFR][1000 genomes]
rs6515370	0.89[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7273129	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73902110	0.83[AMR][1000 genomes]
rs8115973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8121220	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23600600-23617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23602000-23609400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23602000-23610000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:23602000-23610200	Weak transcription	Lung	lung
5	chr20:23602000-23612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:23602000-23616800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr20:23602400-23606600	Weak transcription	Gastric	stomach
8	chr20:23603000-23606400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:23603800-23606400	Weak transcription	Placenta	Placenta
10	chr20:23603800-23609200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr20:23603800-23609800	Weak transcription	Fetal Thymus	thymus
12	chr20:23603800-23615400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:23604000-23606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr20:23604000-23606600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr20:23604000-23606600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr20:23604000-23606600	Weak transcription	Hela-S3	cervix
17	chr20:23604000-23607200	Enhancers	HepG2	liver
18	chr20:23604000-23607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:23604000-23607400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:23604000-23608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:23604000-23608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:23604000-23609600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr20:23604000-23610200	Weak transcription	Ovary	ovary
24	chr20:23604000-23612200	Weak transcription	Liver	Liver
25	chr20:23604000-23612800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:23604000-23613000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:23604000-23613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:23604000-23613400	Weak transcription	Brain Hippocampus Middle	brain
29	chr20:23604000-23614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr20:23604000-23616600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr20:23604000-23616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:23604200-23606400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:23604200-23606400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr20:23604200-23606600	Weak transcription	HSMMtube	muscle
35	chr20:23604200-23606800	Weak transcription	Right Atrium	heart
36	chr20:23604200-23607200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:23604200-23607600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:23604200-23607600	Enhancers	HMEC	breast
39	chr20:23604200-23607600	Enhancers	NHEK	skin
40	chr20:23604200-23609200	Weak transcription	HUVEC	blood vessel
41	chr20:23604200-23609200	Weak transcription	Osteobl	bone
42	chr20:23604200-23609800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr20:23604200-23610000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr20:23604200-23615000	Weak transcription	Brain Anterior Caudate	brain
45	chr20:23604600-23606600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr20:23604800-23608800	Weak transcription	Left Ventricle	heart
47	chr20:23604800-23609000	Weak transcription	Fetal Intestine Small	intestine
48	chr20:23604800-23612200	Weak transcription	Aorta	Aorta
49	chr20:23605000-23606400	Weak transcription	Stomach Mucosa	stomach
50	chr20:23605000-23606600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links