Variant report

Variant	rs8130640
Chromosome Location	chr21:40654069-40654070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40652879..40654790-chr21:40655806..40657491,2	MCF-7	breast:
2	21:40653254-40655577..21:40748850-40752541	Hela-S3	cervix:
3	chr21:40652004..40654564-chr21:40716456..40719134,2	MCF-7	breast:
4	chr21:40647289..40650934-chr21:40652989..40655013,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000252915	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11908880	0.96[AFR][1000 genomes]
rs11908897	0.96[AFR][1000 genomes]
rs11908944	0.96[AFR][1000 genomes]
rs11909386	0.87[AFR][1000 genomes]
rs11909443	1.00[AFR][1000 genomes]
rs11909577	0.83[AFR][1000 genomes]
rs11909669	0.91[AFR][1000 genomes]
rs11909713	0.96[AFR][1000 genomes]
rs11909772	1.00[AFR][1000 genomes]
rs11909777	1.00[AFR][1000 genomes]
rs11909939	0.96[AFR][1000 genomes]
rs11910576	0.83[AFR][1000 genomes]
rs11911019	0.96[AFR][1000 genomes]
rs11911643	0.87[AFR][1000 genomes]
rs11911877	0.98[AFR][1000 genomes]
rs11911886	1.00[AFR][1000 genomes]
rs11911931	1.00[AFR][1000 genomes]
rs34402836	0.96[AFR][1000 genomes]
rs7275380	0.96[AFR][1000 genomes]
rs7276259	0.94[AFR][1000 genomes]
rs7276914	0.96[AFR][1000 genomes]
rs7278301	0.83[AFR][1000 genomes]

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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40614000-40654400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:40614600-40654200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:40618000-40659200	Weak transcription	Stomach Mucosa	stomach
7	chr21:40619400-40656200	Weak transcription	Ovary	ovary
8	chr21:40619600-40660200	Weak transcription	Brain Angular Gyrus	brain
9	chr21:40630200-40661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr21:40630200-40662800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:40631200-40663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:40633200-40662800	Weak transcription	Esophagus	oesophagus
13	chr21:40636600-40659000	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:40638200-40665000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr21:40638600-40657000	Weak transcription	HMEC	breast
16	chr21:40638600-40659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:40638600-40663400	Weak transcription	Gastric	stomach
18	chr21:40638600-40663400	Weak transcription	Psoas Muscle	Psoas
19	chr21:40638600-40665600	Weak transcription	Spleen	Spleen
20	chr21:40639000-40659200	Weak transcription	Brain Substantia Nigra	brain
21	chr21:40639000-40662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:40639000-40663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:40639200-40659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:40641000-40661400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
26	chr21:40642600-40658800	Weak transcription	A549	lung
27	chr21:40642600-40659200	Weak transcription	HUVEC	blood vessel
28	chr21:40643000-40662800	Weak transcription	NHLF	lung
29	chr21:40643400-40662800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:40643400-40662800	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:40643600-40663600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:40646400-40656400	Weak transcription	NHEK	skin
34	chr21:40646400-40662600	Weak transcription	Small Intestine	intestine
35	chr21:40646600-40656800	Weak transcription	HSMMtube	muscle
36	chr21:40646600-40659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:40646600-40662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
39	chr21:40646800-40659400	Weak transcription	Colonic Mucosa	Colon
40	chr21:40647000-40658800	Weak transcription	Brain Germinal Matrix	brain
41	chr21:40647000-40659600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:40647200-40657200	Weak transcription	GM12878-XiMat	blood
43	chr21:40647400-40663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:40650000-40659800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr21:40650200-40663400	Weak transcription	Right Ventricle	heart
46	chr21:40650200-40671600	Weak transcription	Aorta	Aorta
47	chr21:40650400-40656000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:40650400-40659800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr21:40650400-40659800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr21:40650600-40655800	Weak transcription	Rectal Mucosa Donor 31	rectum

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