Variant report

Variant	rs68114370
Chromosome Location	chr21:40550728-40550729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
2	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10154057	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1041439	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11702268	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11910971	0.93[EUR][1000 genomes]
rs13050247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050584	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13051430	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1541100	0.93[EUR][1000 genomes]
rs1541101	0.93[EUR][1000 genomes]
rs1984748	0.92[EUR][1000 genomes]
rs2026266	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2142111	0.83[ASN][1000 genomes]
rs2142117	0.93[EUR][1000 genomes]
rs2150410	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2150412	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2183574	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2183575	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2183576	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2225425	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2236437	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2245455	0.83[ASN][1000 genomes]
rs2272576	0.89[EUR][1000 genomes]
rs2272577	0.89[EUR][1000 genomes]
rs2272578	0.89[EUR][1000 genomes]
rs2297258	0.89[EUR][1000 genomes]
rs2410104	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2410121	0.93[EUR][1000 genomes]
rs28399794	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs371625	0.83[ASN][1000 genomes]
rs377098	0.82[ASN][1000 genomes]
rs3831199	0.80[EUR][1000 genomes]
rs383967	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413078	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414850	0.83[ASN][1000 genomes]
rs418298	0.83[ASN][1000 genomes]
rs418359	0.83[ASN][1000 genomes]
rs419469	0.83[ASN][1000 genomes]
rs425988	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428602	0.83[ASN][1000 genomes]
rs429955	0.83[ASN][1000 genomes]
rs442972	0.83[ASN][1000 genomes]
rs444130	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452377	0.83[ASN][1000 genomes]
rs452776	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4816619	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4816623	0.87[EUR][1000 genomes]
rs4817999	0.81[ASN][1000 genomes]
rs4818004	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4818006	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4818007	0.93[EUR][1000 genomes]
rs4818011	0.93[EUR][1000 genomes]
rs4818012	0.93[EUR][1000 genomes]
rs55885019	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56151678	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517524	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6517525	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6517529	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6517530	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6517531	0.93[EUR][1000 genomes]
rs6517532	0.93[EUR][1000 genomes]
rs6517534	0.87[EUR][1000 genomes]
rs6517536	0.93[EUR][1000 genomes]
rs6517537	0.90[EUR][1000 genomes]
rs6517539	0.93[EUR][1000 genomes]
rs6517540	0.89[EUR][1000 genomes]
rs6517541	0.89[EUR][1000 genomes]
rs6650847	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66519408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66746936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67212994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67382266	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67649754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68069991	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68086041	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718225	0.93[EUR][1000 genomes]
rs7275773	0.93[EUR][1000 genomes]
rs7276559	0.93[EUR][1000 genomes]
rs7276698	0.93[EUR][1000 genomes]
rs7280149	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7282029	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7282604	0.83[ASN][1000 genomes]
rs7282724	0.93[EUR][1000 genomes]
rs7282947	0.93[EUR][1000 genomes]
rs7283439	0.92[EUR][1000 genomes]
rs7283652	0.93[EUR][1000 genomes]
rs8127391	0.93[EUR][1000 genomes]
rs8127537	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8128118	0.89[EUR][1000 genomes]
rs8129847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8130099	0.90[EUR][1000 genomes]
rs8130774	0.93[EUR][1000 genomes]
rs8130795	0.81[ASN][1000 genomes]
rs8131091	0.93[EUR][1000 genomes]
rs8131150	0.90[EUR][1000 genomes]
rs8131263	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8131307	0.90[EUR][1000 genomes]
rs8132230	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs914157	0.93[EUR][1000 genomes]
rs971229	0.93[EUR][1000 genomes]
rs973521	0.93[EUR][1000 genomes]
rs9975410	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9975614	0.84[EUR][1000 genomes]
rs9978591	0.93[EUR][1000 genomes]
rs9978953	0.92[EUR][1000 genomes]
rs9979547	0.92[EUR][1000 genomes]
rs9981656	0.87[EUR][1000 genomes]
rs9982122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40537600-40553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:40539000-40550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:40539600-40554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:40539800-40554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:40540200-40554200	Weak transcription	Psoas Muscle	Psoas
6	chr21:40541200-40552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:40541200-40552800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40541200-40553000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr21:40541200-40553000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:40541200-40553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:40541200-40553800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:40541200-40554000	Weak transcription	Brain Substantia Nigra	brain
13	chr21:40541400-40553000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr21:40541600-40553800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:40541600-40554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:40541600-40554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:40541600-40554000	Weak transcription	Colon Smooth Muscle	Colon
18	chr21:40541800-40554400	Weak transcription	Brain Germinal Matrix	brain
19	chr21:40542000-40554000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:40542000-40554000	Weak transcription	Stomach Mucosa	stomach
21	chr21:40542200-40551600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:40542400-40554400	Weak transcription	Right Atrium	heart
23	chr21:40542800-40554000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:40543000-40552400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:40543000-40552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:40543000-40552600	Strong transcription	Osteobl	bone
27	chr21:40543200-40551800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:40543400-40554000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr21:40543600-40553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:40543800-40553200	Weak transcription	Small Intestine	intestine
31	chr21:40543800-40554000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr21:40543800-40554000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr21:40543800-40554200	Weak transcription	Right Ventricle	heart
34	chr21:40543800-40554600	Weak transcription	Left Ventricle	heart
35	chr21:40544000-40550800	Weak transcription	Aorta	Aorta
36	chr21:40544000-40553800	Weak transcription	HSMMtube	muscle
37	chr21:40544000-40554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:40544000-40554000	Weak transcription	Brain Anterior Caudate	brain
39	chr21:40544200-40554000	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:40544200-40554000	Weak transcription	Colonic Mucosa	Colon
41	chr21:40544600-40551200	Strong transcription	NHEK	skin
42	chr21:40544600-40552400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:40544800-40551600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:40545400-40552400	Strong transcription	Hela-S3	cervix
45	chr21:40545600-40553000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr21:40545600-40554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:40545800-40551000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:40545800-40553800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr21:40546400-40552400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr21:40546400-40553800	Weak transcription	NHLF	lung

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