Variant report

Variant	rs546323450
Chromosome Location	chr21:16665469-16665470
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
2	chr21:16663539..16666081-chr21:16712410..16715629,4	MCF-7	breast:
3	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
4	chr21:16570806..16572373-chr21:16663419..16665582,2	MCF-7	breast:
5	chr21:16584349..16587030-chr21:16664217..16666665,2	MCF-7	breast:
6	chr21:16436807..16439448-chr21:16663226..16666430,5	MCF-7	breast:
7	chr21:16662884..16665504-chr21:16853719..16855454,2	MCF-7	breast:
8	chr21:16436105..16438114-chr21:16663913..16667261,4	MCF-7	breast:
9	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
10	chr21:16577077..16584288-chr21:16662087..16667374,8	MCF-7	breast:
11	chr21:16644102..16647001-chr21:16664045..16665720,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236471	Chromatin interaction
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16662000-16670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:16662400-16665800	Enhancers	Placenta	Placenta
3	chr21:16662400-16666000	Enhancers	Fetal Intestine Large	intestine
4	chr21:16662600-16666000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr21:16662600-16666400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr21:16662800-16666200	Enhancers	Stomach Mucosa	stomach
7	chr21:16663000-16666200	Enhancers	HMEC	breast
8	chr21:16663200-16665600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr21:16663200-16665800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr21:16663200-16665800	Enhancers	Fetal Intestine Small	intestine
11	chr21:16663200-16666200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:16663200-16674400	Weak transcription	Psoas Muscle	Psoas
13	chr21:16663400-16666000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:16663400-16676400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:16663600-16666400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:16663600-16666400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:16664000-16665800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr21:16664000-16666000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:16664000-16666000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:16664400-16666200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr21:16664600-16665600	Weak transcription	Pancreas	Pancrea
22	chr21:16664600-16665600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:16664600-16666000	Enhancers	HepG2	liver
24	chr21:16664800-16666000	Enhancers	Fetal Kidney	kidney
25	chr21:16664800-16673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:16665000-16665800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:16665000-16665800	Enhancers	NHLF	lung
28	chr21:16665000-16666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:16665000-16666000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr21:16665000-16666000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr21:16665000-16666000	Enhancers	HSMMtube	muscle
32	chr21:16665000-16667000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:16665000-16667000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:16665200-16665800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr21:16665200-16666000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:16665200-16666400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:16665200-16666800	Enhancers	HSMM	muscle
38	chr21:16665400-16665600	Flanking Active TSS	A549	lung
39	chr21:16665400-16665800	Enhancers	Fetal Stomach	stomach
40	chr21:16665400-16665800	Enhancers	K562	blood
41	chr21:16665400-16665800	Enhancers	NH-A	brain
42	chr21:16665400-16665800	Flanking Active TSS	NHEK	skin
43	chr21:16665400-16666000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr21:16665400-16666000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:16665400-16666000	Enhancers	Hela-S3	cervix
46	chr21:16665400-16666200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr21:16665400-16666200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:16665400-16666200	Enhancers	HUVEC	blood vessel
49	chr21:16665400-16666400	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links