Variant report

Variant	rs34800103
Chromosome Location	chr21:46187001-46187002
allele	-/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46183165..46184854-chr21:46185530..46187850,2	K562	blood:
2	chr21:46021562..46023632-chr21:46186668..46188181,2	K562	blood:
3	chr21:46185007..46187777-chr21:46197158..46201208,5	MCF-7	breast:
4	chr21:46184586..46187452-chr21:46187793..46189728,3	MCF-7	breast:
5	chr21:46185632..46187378-chr21:46187744..46189857,2	K562	blood:
6	chr21:46181841..46189587-chr21:46189919..46197097,16	MCF-7	breast:
7	chr21:46171917..46177806-chr21:46181342..46188371,13	MCF-7	breast:
8	chr21:46185600..46187229-chr21:46198465..46200138,2	MCF-7	breast:
9	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs170959	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173095	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173097	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180313	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184634	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186848	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235274	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235291	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235292	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235293	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235335	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235336	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235355	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235359	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235364	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235365	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235367	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235368	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570974	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611462	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46181200-46188000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr21:46181800-46188000	Weak transcription	Fetal Intestine Small	intestine
3	chr21:46181800-46188400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:46182200-46189000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr21:46182600-46188600	Weak transcription	Liver	Liver
6	chr21:46183600-46190800	Weak transcription	A549	lung
7	chr21:46184400-46187200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr21:46184400-46187400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:46184600-46187200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr21:46184600-46187600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:46184600-46189000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:46184600-46189200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr21:46184800-46188000	Weak transcription	Lung	lung
14	chr21:46184800-46188600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46184800-46188800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46184800-46188800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46184800-46189600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr21:46185000-46188000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:46185000-46188200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr21:46185200-46188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:46185200-46188000	Weak transcription	Brain Germinal Matrix	brain
22	chr21:46185200-46189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr21:46185200-46189600	Weak transcription	NHLF	lung
24	chr21:46185600-46187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:46185600-46187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:46185600-46188000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr21:46185600-46188200	Weak transcription	Primary T cells from cord blood	blood
28	chr21:46185600-46188200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:46185600-46190800	Weak transcription	Brain Anterior Caudate	brain
30	chr21:46185600-46190800	Weak transcription	Hela-S3	cervix
31	chr21:46185800-46187400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr21:46185800-46187600	Weak transcription	Thymus	Thymus
33	chr21:46185800-46188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:46185800-46188000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:46185800-46188000	Weak transcription	Fetal Brain Female	brain
36	chr21:46185800-46188400	Weak transcription	Adipose Nuclei	Adipose
37	chr21:46185800-46188400	Weak transcription	Ovary	ovary
38	chr21:46185800-46189600	Weak transcription	Fetal Intestine Large	intestine
39	chr21:46185800-46192600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
41	chr21:46186000-46187600	Weak transcription	Fetal Heart	heart
42	chr21:46186000-46188200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:46186000-46189600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:46186000-46189600	Weak transcription	Fetal Lung	lung
45	chr21:46186000-46189600	Weak transcription	Left Ventricle	heart
46	chr21:46186000-46189800	Weak transcription	HSMMtube	muscle
47	chr21:46186000-46190600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr21:46186000-46190800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr21:46186200-46187400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:46186200-46187400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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