Variant report

Variant	rs7283652
Chromosome Location	chr21:40660493-40660494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40659858..40663971-chr21:40719417..40722470,4	MCF-7	breast:
2	chr21:40657367..40661243-chr21:40682773..40686653,4	MCF-7	breast:
3	chr21:40657853..40663062-chr21:40682568..40687952,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185658	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1011413	0.86[ASN][1000 genomes]
rs10154057	0.87[EUR][1000 genomes]
rs10154217	0.83[ASN][1000 genomes]
rs1041439	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11702268	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11910971	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11911822	0.84[ASN][1000 genomes]
rs12626405	0.87[ASN][1000 genomes]
rs13050247	0.93[EUR][1000 genomes]
rs13050584	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13051430	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1541100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541101	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1882779	0.81[ASN][1000 genomes]
rs1888487	0.85[ASN][1000 genomes]
rs1963742	0.82[ASN][1000 genomes]
rs1984748	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026266	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070867	0.83[ASN][1000 genomes]
rs2142117	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2150410	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2150412	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2183574	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2183575	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2183576	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2225425	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236437	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2272576	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272577	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272578	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2297258	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2410104	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2410121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2776310	0.83[ASN][1000 genomes]
rs2836969	0.86[ASN][1000 genomes]
rs2836971	0.86[ASN][1000 genomes]
rs2836975	0.87[ASN][1000 genomes]
rs2836982	0.83[ASN][1000 genomes]
rs28399794	0.82[EUR][1000 genomes]
rs35909862	0.85[ASN][1000 genomes]
rs3746885	0.87[ASN][1000 genomes]
rs3746886	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs383967	0.93[EUR][1000 genomes]
rs391062	0.93[EUR][1000 genomes]
rs413078	0.93[EUR][1000 genomes]
rs425988	0.93[EUR][1000 genomes]
rs444130	0.93[EUR][1000 genomes]
rs452776	0.93[EUR][1000 genomes]
rs4816619	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4816620	0.86[ASN][1000 genomes]
rs4816623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818004	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818005	0.83[ASN][1000 genomes]
rs4818006	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818007	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818014	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818015	0.85[ASN][1000 genomes]
rs55885019	0.87[EUR][1000 genomes]
rs56151678	0.83[EUR][1000 genomes]
rs6517520	0.93[EUR][1000 genomes]
rs6517524	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6517525	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6517529	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517530	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517534	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517535	0.86[ASN][1000 genomes]
rs6517536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517537	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517540	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6517541	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6650847	0.93[EUR][1000 genomes]
rs66519408	0.93[EUR][1000 genomes]
rs66746936	0.93[EUR][1000 genomes]
rs67212994	0.93[EUR][1000 genomes]
rs67382266	0.87[EUR][1000 genomes]
rs67649754	0.93[EUR][1000 genomes]
rs68069991	0.87[EUR][1000 genomes]
rs68086041	0.87[EUR][1000 genomes]
rs68114370	0.93[EUR][1000 genomes]
rs718225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs719230	0.85[ASN][1000 genomes]
rs726046	0.83[ASN][1000 genomes]
rs7275773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7276559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276774	0.86[ASN][1000 genomes]
rs7278985	0.86[ASN][1000 genomes]
rs7280149	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7281853	0.82[ASN][1000 genomes]
rs7282029	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7282724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7283439	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8127391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127537	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8128118	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129847	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8130099	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8130774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131067	0.90[ASN][1000 genomes]
rs8131091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8131150	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8131263	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8131307	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132230	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs914157	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs971229	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs973521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997147	0.83[ASN][1000 genomes]
rs9974757	0.86[ASN][1000 genomes]
rs9975410	0.87[EUR][1000 genomes]
rs9975614	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9978591	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9978775	0.83[ASN][1000 genomes]
rs9978953	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9979547	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9981656	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9982111	0.87[ASN][1000 genomes]
rs9982122	0.93[EUR][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	chr21:40608400-40667200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:40630200-40661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:40630200-40662800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:40631200-40663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:40633200-40662800	Weak transcription	Esophagus	oesophagus
6	chr21:40638200-40665000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr21:40638600-40663400	Weak transcription	Gastric	stomach
8	chr21:40638600-40663400	Weak transcription	Psoas Muscle	Psoas
9	chr21:40638600-40665600	Weak transcription	Spleen	Spleen
10	chr21:40639000-40662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr21:40639000-40663400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:40641000-40661400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
14	chr21:40643000-40662800	Weak transcription	NHLF	lung
15	chr21:40643400-40662800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:40643400-40662800	Weak transcription	Brain Hippocampus Middle	brain
17	chr21:40643600-40663600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:40646400-40662600	Weak transcription	Small Intestine	intestine
20	chr21:40646600-40662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
22	chr21:40647400-40663600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:40650200-40663400	Weak transcription	Right Ventricle	heart
24	chr21:40650200-40671600	Weak transcription	Aorta	Aorta
25	chr21:40650600-40660800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:40650600-40662400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr21:40651400-40662400	Weak transcription	Lung	lung
28	chr21:40651400-40671600	Weak transcription	Pancreas	Pancrea
29	chr21:40653800-40662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:40654600-40662400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:40654800-40662000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr21:40655000-40669400	Strong transcription	NHDF-Ad	bronchial
33	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr21:40655400-40683200	Strong transcription	Dnd41	blood
36	chr21:40655600-40671800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:40655800-40671800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:40655800-40672200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:40655800-40672800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr21:40655800-40673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
43	chr21:40656000-40662000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr21:40656000-40669400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr21:40656200-40661600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr21:40656200-40662000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr21:40656200-40662000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr21:40656200-40662000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:40656200-40662800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:40656200-40672400	Strong transcription	Liver	Liver

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