Variant report

Variant	rs8992
Chromosome Location	chr21:28208954-28208955
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	chr21:28208531..28212361-chr21:28215546..28220151,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154734	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1497288	1.00[ASN][1000 genomes]
rs162488	1.00[ASN][1000 genomes]
rs162490	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162491	1.00[ASN][1000 genomes]
rs162492	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162493	1.00[ASN][1000 genomes]
rs162498	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162501	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162503	1.00[ASN][1000 genomes]
rs162504	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162505	1.00[ASN][1000 genomes]
rs162507	1.00[ASN][1000 genomes]
rs162508	1.00[ASN][1000 genomes]
rs162510	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162516	1.00[ASN][1000 genomes]
rs162520	1.00[ASN][1000 genomes]
rs162521	1.00[ASN][1000 genomes]
rs162531	1.00[ASN][1000 genomes]
rs162533	1.00[ASN][1000 genomes]
rs162534	1.00[ASN][1000 genomes]
rs162535	1.00[ASN][1000 genomes]
rs162536	1.00[ASN][1000 genomes]
rs162537	1.00[ASN][1000 genomes]
rs162538	1.00[ASN][1000 genomes]
rs162539	1.00[ASN][1000 genomes]
rs162540	1.00[ASN][1000 genomes]
rs162541	1.00[ASN][1000 genomes]
rs229053	1.00[JPT][hapmap]
rs229060	1.00[ASN][1000 genomes]
rs229061	1.00[ASN][1000 genomes]
rs229063	1.00[ASN][1000 genomes]
rs229064	1.00[ASN][1000 genomes]
rs229069	1.00[ASN][1000 genomes]
rs229071	1.00[ASN][1000 genomes]
rs229076	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229078	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229085	1.00[ASN][1000 genomes]
rs229087	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229088	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229095	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229097	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229103	1.00[ASN][1000 genomes]
rs233899	1.00[ASN][1000 genomes]
rs233900	1.00[ASN][1000 genomes]
rs2830556	1.00[ASN][1000 genomes]
rs457947	1.00[ASN][1000 genomes]
rs4817147	1.00[ASN][1000 genomes]
rs73358063	1.00[ASN][1000 genomes]
rs73358075	1.00[ASN][1000 genomes]
rs73899348	1.00[ASN][1000 genomes]
rs8127064	1.00[ASN][1000 genomes]
rs8131204	1.00[ASN][1000 genomes]
rs9647124	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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv3482	chr21:28191297-28221975	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	nsv470897	chr21:28196045-28216066	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28203200-28209000	Enhancers	Dnd41	blood
2	chr21:28204000-28210000	Weak transcription	HUVEC	blood vessel
3	chr21:28204600-28209000	Weak transcription	Brain Angular Gyrus	brain
4	chr21:28205400-28209000	Enhancers	NHEK	skin
5	chr21:28205400-28210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:28205800-28209000	Weak transcription	Placenta	Placenta
7	chr21:28205800-28209000	Enhancers	HMEC	breast
8	chr21:28206200-28209600	Weak transcription	Brain Anterior Caudate	brain
9	chr21:28206200-28209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:28206200-28210000	Weak transcription	Lung	lung
11	chr21:28206200-28210000	Weak transcription	Right Atrium	heart
12	chr21:28206400-28209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr21:28206400-28209000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr21:28206400-28209400	Weak transcription	Left Ventricle	heart
15	chr21:28206400-28210000	Weak transcription	Spleen	Spleen
16	chr21:28206600-28209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:28206600-28209000	Weak transcription	Fetal Heart	heart
18	chr21:28206600-28209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:28206600-28209800	Weak transcription	Aorta	Aorta
20	chr21:28206800-28209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:28206800-28209000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:28206800-28209800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr21:28207000-28212000	Weak transcription	Primary T cells from cord blood	blood
24	chr21:28207200-28209000	Weak transcription	Liver	Liver
25	chr21:28207200-28209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:28207200-28209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:28207200-28209800	Weak transcription	Pancreas	Pancrea
28	chr21:28207400-28209600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr21:28207400-28209600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:28207400-28209800	Weak transcription	Brain Substantia Nigra	brain
31	chr21:28207400-28209800	Weak transcription	Fetal Intestine Small	intestine
32	chr21:28207400-28210000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:28207400-28210000	Weak transcription	Thymus	Thymus
34	chr21:28207400-28211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:28207400-28214600	Weak transcription	Colonic Mucosa	Colon
36	chr21:28207600-28209800	Weak transcription	Esophagus	oesophagus
37	chr21:28207800-28210600	Genic enhancers	HSMM	muscle
38	chr21:28207800-28214200	Weak transcription	Fetal Brain Male	brain
39	chr21:28207800-28215200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:28208000-28209000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:28208000-28215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr21:28208200-28209000	Weak transcription	Brain Hippocampus Middle	brain
43	chr21:28208200-28209000	Weak transcription	NH-A	brain
44	chr21:28208200-28209600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:28208200-28209800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr21:28208200-28210400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:28208200-28210400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:28208200-28212600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr21:28208200-28214400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr21:28208400-28210000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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