Variant report

Variant	rs3788138
Chromosome Location	chr21:46187408-46187409
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr21:46181841..46189587-chr21:46189919..46197097,16	MCF-7	breast:
6	chr21:46171917..46177806-chr21:46181342..46188371,13	MCF-7	breast:
7	chr21:46187285..46189608-chr21:46193802..46195925,2	K562	blood:
8	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13047692	0.93[ASN][1000 genomes]
rs13047718	0.93[ASN][1000 genomes]
rs13433413	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2294158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838676	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838677	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838679	0.97[ASN][1000 genomes]
rs2838681	0.82[AFR][1000 genomes]
rs2838683	0.81[AFR][1000 genomes]
rs2838693	0.92[ASN][1000 genomes]
rs2838697	0.93[ASN][1000 genomes]
rs2838698	0.92[ASN][1000 genomes]
rs2838700	0.92[ASN][1000 genomes]
rs34875321	0.92[ASN][1000 genomes]
rs4818731	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818976	0.96[ASN][1000 genomes]
rs4818977	0.94[ASN][1000 genomes]
rs72613649	0.92[ASN][1000 genomes]
rs8131444	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8132011	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9306115	0.94[ASN][1000 genomes]
rs9306116	0.92[ASN][1000 genomes]
rs9637189	0.93[ASN][1000 genomes]
rs9977465	0.92[ASN][1000 genomes]
rs9977676	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978131	0.82[AMR][1000 genomes];0.95[ASN][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:116 , 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	chr21:46184600-46187600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr21:46184600-46189000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr21:46184600-46189200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr21:46184800-46188000	Weak transcription	Lung	lung
11	chr21:46184800-46188600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46184800-46188800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46184800-46188800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:46184800-46189600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr21:46185000-46188000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr21:46185000-46188200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr21:46185200-46188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:46185200-46188000	Weak transcription	Brain Germinal Matrix	brain
19	chr21:46185200-46189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr21:46185200-46189600	Weak transcription	NHLF	lung
21	chr21:46185600-46188000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr21:46185600-46188200	Weak transcription	Primary T cells from cord blood	blood
23	chr21:46185600-46188200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:46185600-46190800	Weak transcription	Brain Anterior Caudate	brain
25	chr21:46185600-46190800	Weak transcription	Hela-S3	cervix
26	chr21:46185800-46187600	Weak transcription	Thymus	Thymus
27	chr21:46185800-46188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr21:46185800-46188000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:46185800-46188000	Weak transcription	Fetal Brain Female	brain
30	chr21:46185800-46188400	Weak transcription	Adipose Nuclei	Adipose
31	chr21:46185800-46188400	Weak transcription	Ovary	ovary
32	chr21:46185800-46189600	Weak transcription	Fetal Intestine Large	intestine
33	chr21:46185800-46192600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
35	chr21:46186000-46187600	Weak transcription	Fetal Heart	heart
36	chr21:46186000-46188200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46186000-46189600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr21:46186000-46189600	Weak transcription	Fetal Lung	lung
39	chr21:46186000-46189600	Weak transcription	Left Ventricle	heart
40	chr21:46186000-46189800	Weak transcription	HSMMtube	muscle
41	chr21:46186000-46190600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:46186000-46190800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr21:46186200-46187800	Weak transcription	Right Ventricle	heart
44	chr21:46186200-46188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:46186200-46188000	Weak transcription	Brain Hippocampus Middle	brain
46	chr21:46186200-46188400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:46186200-46188400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr21:46186200-46189600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr21:46186200-46189600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:46186200-46189800	Weak transcription	Brain Cingulate Gyrus	brain

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