Variant report

Variant	rs969146
Chromosome Location	chr21:16613329-16613330
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16609476..16611637-chr21:16613260..16615489,2	MCF-7	breast:
2	chr21:16435126..16438697-chr21:16610565..16614285,4	MCF-7	breast:
3	chr21:16610914..16614586-chr21:16614591..16617971,5	K562	blood:
4	chr21:16611556..16614063-chr21:16614591..16617971,3	K562	blood:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018354	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481765	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482106	0.81[AMR][1000 genomes]
rs12482240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482854	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12483327	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304524	1.00[JPT][hapmap]
rs2823199	1.00[JPT][hapmap]

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	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1811376	chr21:16600040-16623356	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16610200-16614000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16610200-16614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:16611400-16614400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:16611400-16615600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:16612200-16613400	Enhancers	NHEK	skin
6	chr21:16612200-16613600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:16612200-16616200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:16612600-16613400	Enhancers	HMEC	breast
9	chr21:16612600-16614000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr21:16612600-16615800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr21:16612800-16613400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr21:16612800-16613600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:16612800-16613600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:16612800-16613600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:16612800-16613600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:16612800-16613600	Enhancers	Colon Smooth Muscle	Colon
17	chr21:16612800-16613800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr21:16612800-16614200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:16612800-16614200	Enhancers	Adipose Nuclei	Adipose
20	chr21:16612800-16615200	Enhancers	Fetal Kidney	kidney
21	chr21:16613000-16613600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr21:16613000-16613600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:16613000-16613800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr21:16613000-16614000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:16613000-16614000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr21:16613000-16615600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:16613200-16614400	Weak transcription	Brain Germinal Matrix	brain
28	chr21:16613200-16614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:16613200-16615000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr21:16613200-16615400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:16613200-16624000	Weak transcription	Rectal Smooth Muscle	rectum

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