Variant report

Variant	rs425176
Chromosome Location	chr21:46521642-46521643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
2	chr21:46493552..46495288-chr21:46521401..46524653,4	MCF-7	breast:
3	chr21:46514549..46517055-chr21:46520921..46524159,3	MCF-7	breast:
4	chr21:46493580..46496236-chr21:46521352..46523890,2	MCF-7	breast:
5	chr21:46515956..46522233-chr21:46528087..46531013,7	K562	blood:
6	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17004737	1.00[ASN][1000 genomes]
rs17004749	0.90[TSI][hapmap]
rs17004752	0.90[TSI][hapmap]
rs2032253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838772	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838777	1.00[ASN][1000 genomes]
rs2838779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2838785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3171490	1.00[ASN][1000 genomes]
rs373249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407157	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs413148	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs420499	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs422205	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs423892	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441788	0.90[LWK][hapmap];1.00[MKK][hapmap]
rs444789	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453176	0.81[TSI][hapmap]
rs73230662	0.84[ASN][1000 genomes]
rs73230667	1.00[ASN][1000 genomes]
rs73230670	1.00[ASN][1000 genomes]
rs73230679	1.00[ASN][1000 genomes]
rs73230680	1.00[ASN][1000 genomes]
rs73230681	1.00[ASN][1000 genomes]
rs73232640	1.00[ASN][1000 genomes]
rs8133767	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	esv3359090	chr21:46519949-46522497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
2	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46503000-46522200	Weak transcription	Brain Angular Gyrus	brain
4	chr21:46509400-46524000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr21:46512200-46521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:46512200-46522400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:46512200-46525600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46513600-46522200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:46513600-46522400	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:46513600-46522600	Weak transcription	Aorta	Aorta
12	chr21:46513600-46522600	Weak transcription	Brain Anterior Caudate	brain
13	chr21:46513800-46522000	Weak transcription	Stomach Mucosa	stomach
14	chr21:46514200-46525000	Enhancers	Right Ventricle	heart
15	chr21:46514600-46522600	Weak transcription	Fetal Thymus	thymus
16	chr21:46514800-46522200	Weak transcription	Primary T cells from cord blood	blood
17	chr21:46514800-46523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr21:46515000-46522200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr21:46515200-46521800	Weak transcription	Pancreas	Pancrea
20	chr21:46515200-46522000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr21:46515400-46522000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr21:46515600-46522400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr21:46516200-46522200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:46516200-46524000	Weak transcription	Gastric	stomach
25	chr21:46516400-46525600	Weak transcription	K562	blood
26	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:46516600-46522000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:46516600-46522600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:46516600-46522600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:46517400-46523800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:46518200-46522600	Weak transcription	Esophagus	oesophagus
32	chr21:46518600-46523600	Weak transcription	Placenta	Placenta
33	chr21:46519000-46522200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr21:46519200-46521800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:46519200-46521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:46519200-46522000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr21:46519200-46522000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:46519200-46522000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:46519400-46526800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:46519800-46522000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr21:46519800-46522200	Weak transcription	HSMMtube	muscle
42	chr21:46519800-46522600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr21:46520000-46522200	Weak transcription	Fetal Heart	heart
44	chr21:46520200-46521800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:46520200-46524800	Enhancers	Spleen	Spleen
46	chr21:46520400-46521800	Weak transcription	Fetal Stomach	stomach
47	chr21:46520400-46521800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr21:46520400-46521800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr21:46520400-46522000	Weak transcription	Primary B cells from cord blood	blood
50	chr21:46520400-46522000	Weak transcription	Fetal Muscle Leg	muscle

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