Variant report

Variant	rs420412
Chromosome Location	chr5:81001867-81001868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1023747	0.85[CHB][hapmap]
rs12186581	0.80[ASN][1000 genomes]
rs13156146	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13160079	0.84[ASN][1000 genomes]
rs1347597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2043646	0.82[CEU][hapmap]
rs34007998	0.84[ASN][1000 genomes]
rs365241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs371705	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs374479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382523	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs389860	0.93[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][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]
rs396231	0.85[CHB][hapmap]
rs398666	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs402061	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs402352	0.84[CHB][hapmap];0.98[ASN][1000 genomes]
rs403777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs403795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406283	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs406292	0.82[CEU][hapmap]
rs411520	0.98[ASN][1000 genomes]
rs411990	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs418033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs419017	0.81[CEU][hapmap]
rs419435	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs420202	0.93[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];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421348	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs422523	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs424762	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs424844	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs425897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432617	0.98[ASN][1000 genomes]
rs437417	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs446064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs452314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs454487	0.81[CEU][hapmap]
rs585558	0.82[CEU][hapmap]
rs586695	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6898782	0.85[CHB][hapmap]
rs827065	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80995000-81005800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
7	chr5:80996600-81003000	Weak transcription	K562	blood
8	chr5:80996600-81007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:80996800-81005000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
12	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
14	chr5:80997000-81004800	Weak transcription	Fetal Brain Female	brain
15	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:80997200-81005600	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
18	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:80997400-81008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:80997600-81003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:80997600-81004800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:80997800-81007400	Weak transcription	Primary T cells from cord blood	blood
23	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:80998200-81003200	Weak transcription	HSMM	muscle
25	chr5:80998800-81005000	Strong transcription	Dnd41	blood
26	chr5:80999400-81013000	Weak transcription	Ovary	ovary
27	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
28	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
30	chr5:81000200-81002000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:81000200-81003800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:81000200-81004600	Weak transcription	Fetal Intestine Large	intestine
33	chr5:81000400-81002000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:81000400-81003200	Weak transcription	Gastric	stomach
35	chr5:81000400-81007400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
38	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
39	chr5:81001400-81004000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:81001600-81002400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:81001600-81003200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:81001600-81003400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:81001800-81002200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr5:81001800-81006200	Strong transcription	Fetal Thymus	thymus

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