Variant report

Variant	rs575479106
Chromosome Location	chr21:16665218-16665219
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
2	chr21:16662853..16665318-chr21:16789620..16791689,2	MCF-7	breast:
3	chr21:16663539..16666081-chr21:16712410..16715629,4	MCF-7	breast:
4	chr21:16663401..16665237-chr21:16852171..16854477,2	MCF-7	breast:
5	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
6	chr21:16570806..16572373-chr21:16663419..16665582,2	MCF-7	breast:
7	chr21:16584349..16587030-chr21:16664217..16666665,2	MCF-7	breast:
8	chr21:16436807..16439448-chr21:16663226..16666430,5	MCF-7	breast:
9	chr21:16662884..16665504-chr21:16853719..16855454,2	MCF-7	breast:
10	chr21:16436105..16438114-chr21:16663913..16667261,4	MCF-7	breast:
11	chr21:16656272..16660929-chr21:16661608..16666085,6	MCF-7	breast:
12	chr21:16577077..16584288-chr21:16662087..16667374,8	MCF-7	breast:
13	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:43 , 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	chr21:16663200-16665400	Weak transcription	Fetal Stomach	stomach
9	chr21:16663200-16665600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:16663200-16665800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:16663200-16665800	Enhancers	Fetal Intestine Small	intestine
12	chr21:16663200-16666200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:16663200-16674400	Weak transcription	Psoas Muscle	Psoas
14	chr21:16663400-16665400	Weak transcription	K562	blood
15	chr21:16663400-16666000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr21:16663400-16676400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:16663600-16665400	Enhancers	NHEK	skin
18	chr21:16663600-16666400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:16663600-16666400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:16663800-16665400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:16664000-16665400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:16664000-16665400	Enhancers	A549	lung
23	chr21:16664000-16665800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr21:16664000-16666000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:16664000-16666000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:16664400-16666200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr21:16664600-16665600	Weak transcription	Pancreas	Pancrea
28	chr21:16664600-16665600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr21:16664600-16666000	Enhancers	HepG2	liver
30	chr21:16664800-16666000	Enhancers	Fetal Kidney	kidney
31	chr21:16664800-16673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:16665000-16665800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:16665000-16665800	Enhancers	NHLF	lung
34	chr21:16665000-16666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:16665000-16666000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr21:16665000-16666000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr21:16665000-16666000	Enhancers	HSMMtube	muscle
38	chr21:16665000-16667000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:16665000-16667000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:16665200-16665800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr21:16665200-16666000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:16665200-16666400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr21:16665200-16666800	Enhancers	HSMM	muscle

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