Variant report

Variant	rs8131067
Chromosome Location	chr21:40682542-40682543
allele	A/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: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	chr21:40672762..40675001-chr21:40682440..40684098,2	K562	blood:
2	chr21:40645807..40648656-chr21:40680491..40682941,2	K562	blood:
3	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
4	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
5	chr21:40645055..40648656-chr21:40680491..40684092,3	K562	blood:
6	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
7	chr21:40554270..40557456-chr21:40682408..40685088,3	K562	blood:
8	chr21:40591760..40593585-chr21:40682186..40684474,2	K562	blood:
9	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000252915	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11702268	0.87[ASN][1000 genomes]
rs11910971	0.87[ASN][1000 genomes]
rs1541100	0.89[ASN][1000 genomes]
rs1541101	0.86[ASN][1000 genomes]
rs1888487	0.81[ASN][1000 genomes]
rs1984748	0.91[ASN][1000 genomes]
rs2026266	0.87[ASN][1000 genomes]
rs2142117	0.91[ASN][1000 genomes]
rs2183574	0.87[ASN][1000 genomes]
rs2183575	0.87[ASN][1000 genomes]
rs2183576	0.87[ASN][1000 genomes]
rs2272576	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272577	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2272578	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2297258	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2410121	0.89[ASN][1000 genomes]
rs3746885	0.82[ASN][1000 genomes]
rs3746886	0.82[ASN][1000 genomes]
rs4816619	0.87[ASN][1000 genomes]
rs4816623	0.80[ASN][1000 genomes]
rs4818004	0.86[ASN][1000 genomes]
rs4818006	0.87[ASN][1000 genomes]
rs4818007	0.87[ASN][1000 genomes]
rs4818011	0.88[ASN][1000 genomes]
rs4818012	0.87[ASN][1000 genomes]
rs4818014	0.90[ASN][1000 genomes]
rs4818015	0.81[ASN][1000 genomes]
rs6517529	0.86[ASN][1000 genomes]
rs6517530	0.87[ASN][1000 genomes]
rs6517531	0.89[ASN][1000 genomes]
rs6517532	0.89[ASN][1000 genomes]
rs6517534	0.85[ASN][1000 genomes]
rs6517536	0.89[ASN][1000 genomes]
rs6517537	0.89[ASN][1000 genomes]
rs6517539	0.90[ASN][1000 genomes]
rs6517540	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6517541	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs718225	0.89[ASN][1000 genomes]
rs719230	0.81[ASN][1000 genomes]
rs7275773	0.88[ASN][1000 genomes]
rs7276559	0.90[ASN][1000 genomes]
rs7276698	0.90[ASN][1000 genomes]
rs7280149	0.87[ASN][1000 genomes]
rs7282724	0.90[ASN][1000 genomes]
rs7282947	0.87[ASN][1000 genomes]
rs7283439	0.88[ASN][1000 genomes]
rs7283652	0.90[ASN][1000 genomes]
rs8127391	0.89[ASN][1000 genomes]
rs8128118	0.87[ASN][1000 genomes]
rs8129847	0.87[ASN][1000 genomes]
rs8130099	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8130774	0.90[ASN][1000 genomes]
rs8131091	0.89[ASN][1000 genomes]
rs8131150	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8131263	0.87[ASN][1000 genomes]
rs8131307	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8132230	0.86[ASN][1000 genomes]
rs914157	0.87[ASN][1000 genomes]
rs971229	0.89[ASN][1000 genomes]
rs973521	0.89[ASN][1000 genomes]
rs9978591	0.88[ASN][1000 genomes]
rs9978953	0.88[ASN][1000 genomes]
rs9979547	0.86[ASN][1000 genomes]
rs9981656	0.80[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	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
2	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
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 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	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
2	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
4	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:40655400-40683200	Strong transcription	Dnd41	blood
6	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
8	chr21:40663600-40683400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:40665000-40683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
12	chr21:40666000-40682600	Weak transcription	NHLF	lung
13	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
14	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
17	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
18	chr21:40669800-40683800	Weak transcription	Brain Substantia Nigra	brain
19	chr21:40670400-40683800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr21:40670600-40683200	Weak transcription	NHDF-Ad	bronchial
21	chr21:40671400-40683200	Weak transcription	HMEC	breast
22	chr21:40672200-40684000	Weak transcription	Aorta	Aorta
23	chr21:40672400-40683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr21:40672400-40684000	Weak transcription	Small Intestine	intestine
25	chr21:40672600-40682600	Weak transcription	Psoas Muscle	Psoas
26	chr21:40672600-40683800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:40672800-40683400	Weak transcription	Fetal Heart	heart
29	chr21:40672800-40683800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:40673600-40682600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr21:40673600-40682600	Weak transcription	Hela-S3	cervix
32	chr21:40673600-40683200	Weak transcription	Primary B cells from cord blood	blood
33	chr21:40673600-40683400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr21:40673600-40683600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr21:40673600-40683600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:40673600-40683600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:40673600-40683800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:40673600-40684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:40673600-40684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:40673600-40684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr21:40673800-40682600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:40673800-40683800	Weak transcription	Fetal Kidney	kidney
43	chr21:40675000-40683800	Weak transcription	A549	lung
44	chr21:40675400-40683400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:40675800-40683400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:40675800-40683800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr21:40675800-40684200	Weak transcription	Pancreas	Pancrea
48	chr21:40675800-40684400	Weak transcription	Gastric	stomach
49	chr21:40675800-40684400	Weak transcription	Spleen	Spleen
50	chr21:40676000-40682600	Weak transcription	Ovary	ovary

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