Variant report

Variant	rs166282
Chromosome Location	chr5:40829739-40829740
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40803716..40807696-chr5:40826215..40829999,3	MCF-7	breast:
2	chr5:40795414..40800612-chr5:40826901..40832318,11	MCF-7	breast:
3	chr5:40764711..40766682-chr5:40828247..40830286,2	MCF-7	breast:
4	chr5:40797697..40800949-chr5:40824816..40830013,8	MCF-7	breast:
5	chr5:40741850..40745005-chr5:40826482..40830579,3	K562	blood:
6	chr12:92538001..92540396-chr5:40827801..40830169,2	K562	blood:
7	chr5:40753095..40762740-chr5:40824814..40831828,21	K562	blood:
8	chr5:40755889..40758309-chr5:40829239..40831191,2	MCF-7	breast:
9	chr5:40756184..40758054-chr5:40828645..40830929,3	MCF-7	breast:
10	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
11	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
12	chr5:40776154..40778816-chr5:40827762..40829741,2	K562	blood:
13	chr5:40802997..40805283-chr5:40828137..40831104,3	MCF-7	breast:
14	chr5:40765162..40773094-chr5:40824590..40832435,13	K562	blood:
15	chr16:2317927..2318636-chr5:40829714..40830390,2	Hela-S3	cervix:
16	chr5:40828188..40830932-chr5:40857646..40860202,2	MCF-7	breast:
17	chr20:45877763..45879321-chr5:40827692..40829763,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133639	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000113638	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000260778	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1097604	0.81[ASN][1000 genomes]
rs1103634	0.89[ASN][1000 genomes]
rs152374	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs152376	0.88[ASN][1000 genomes]
rs1530811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs154269	0.81[ASN][1000 genomes]
rs154270	0.88[ASN][1000 genomes]
rs154271	0.88[ASN][1000 genomes]
rs154272	1.00[ASN][1000 genomes]
rs154273	0.88[ASN][1000 genomes]
rs154274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154276	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154277	0.81[ASN][1000 genomes]
rs154278	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154282	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs154283	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1631661	0.88[ASN][1000 genomes]
rs1645509	1.00[ASN][1000 genomes]
rs1697929	0.81[ASN][1000 genomes]
rs1697937	0.81[ASN][1000 genomes]
rs173618	0.88[ASN][1000 genomes]
rs173619	1.00[ASN][1000 genomes]
rs181819	0.94[ASN][1000 genomes]
rs181820	1.00[ASN][1000 genomes]
rs181821	1.00[ASN][1000 genomes]
rs183138	0.88[ASN][1000 genomes]
rs184436	0.81[ASN][1000 genomes]
rs185114	0.81[ASN][1000 genomes]
rs185115	0.81[ASN][1000 genomes]
rs185381	0.81[ASN][1000 genomes]
rs187274	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2262009	0.81[ASN][1000 genomes]
rs249421	0.81[ASN][1000 genomes]
rs249424	0.81[ASN][1000 genomes]
rs249426	0.81[ASN][1000 genomes]
rs249427	0.81[ASN][1000 genomes]
rs249431	0.81[ASN][1000 genomes]
rs249432	0.88[ASN][1000 genomes]
rs249433	0.88[ASN][1000 genomes]
rs249434	0.88[ASN][1000 genomes]
rs249435	0.88[ASN][1000 genomes]
rs249439	1.00[ASN][1000 genomes]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs29741	0.81[ASN][1000 genomes]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs323560	0.81[ASN][1000 genomes]
rs323562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs34236150	1.00[ASN][1000 genomes]
rs370346	1.00[ASN][1000 genomes]
rs380334	0.81[ASN][1000 genomes]
rs382916	0.81[ASN][1000 genomes]
rs396412	1.00[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs418494	0.81[ASN][1000 genomes]
rs424787	1.00[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs433730	0.81[ASN][1000 genomes]
rs438604	1.00[ASN][1000 genomes]
rs441016	1.00[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs455374	1.00[ASN][1000 genomes]
rs455519	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs456929	0.81[ASN][1000 genomes]
rs456995	0.81[ASN][1000 genomes]
rs457111	1.00[ASN][1000 genomes]
rs458884	1.00[ASN][1000 genomes]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs460752	1.00[ASN][1000 genomes]
rs461612	0.81[ASN][1000 genomes]
rs462430	0.87[ASN][1000 genomes]
rs463040	1.00[ASN][1000 genomes]
rs463675	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs463905	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs464191	1.00[ASN][1000 genomes]
rs465196	0.87[ASN][1000 genomes]
rs465467	1.00[ASN][1000 genomes]
rs466960	0.88[ASN][1000 genomes]
rs467438	1.00[ASN][1000 genomes]
rs694217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs704032	0.88[ASN][1000 genomes]
rs704033	0.88[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs837100	0.81[ASN][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837105	0.81[ASN][1000 genomes]
rs837267	0.81[ASN][1000 genomes]
rs837279	0.88[ASN][1000 genomes]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs837381	0.81[ASN][1000 genomes]
rs837382	0.81[ASN][1000 genomes]
rs837384	0.81[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs837389	0.81[ASN][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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases
3	nsv518711	chr5:40827307-40835627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	137 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40823600-40833200	Strong transcription	Thymus	Thymus
2	chr5:40824200-40830000	Weak transcription	Aorta	Aorta
3	chr5:40824200-40833000	Weak transcription	Fetal Heart	heart
4	chr5:40824200-40833000	Weak transcription	Psoas Muscle	Psoas
5	chr5:40824800-40833000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:40824800-40833200	Strong transcription	Fetal Thymus	thymus
7	chr5:40824800-40833600	Strong transcription	Brain Germinal Matrix	brain
8	chr5:40825000-40832600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:40825000-40832800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:40825200-40830000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:40825200-40831400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:40825200-40832200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:40825200-40832200	Strong transcription	Liver	Liver
14	chr5:40825200-40832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:40825200-40833200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:40825200-40833400	Strong transcription	Brain Anterior Caudate	brain
17	chr5:40825400-40830400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:40825400-40830800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:40825400-40831400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:40825400-40831800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:40825400-40832000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:40825400-40833800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr5:40825600-40831200	Strong transcription	NHLF	lung
24	chr5:40825600-40831600	Strong transcription	HMEC	breast
25	chr5:40825600-40831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:40825600-40831800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:40825600-40831800	Strong transcription	NH-A	brain
28	chr5:40825600-40832000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:40825600-40832000	Strong transcription	Osteobl	bone
30	chr5:40825600-40832200	Strong transcription	HSMM	muscle
31	chr5:40825600-40832600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:40825600-40832600	Strong transcription	Fetal Stomach	stomach
33	chr5:40825600-40832600	Strong transcription	Spleen	Spleen
34	chr5:40825600-40832800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:40825600-40833000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr5:40825600-40833200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:40825600-40833200	Strong transcription	Fetal Muscle Leg	muscle
38	chr5:40825600-40833200	Strong transcription	Left Ventricle	heart
39	chr5:40825600-40833400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:40825600-40833400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:40825800-40830000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:40825800-40831800	Strong transcription	Fetal Intestine Small	intestine
43	chr5:40825800-40833200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:40826000-40830000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:40826000-40830000	Strong transcription	HUVEC	blood vessel
46	chr5:40826000-40831200	Strong transcription	GM12878-XiMat	blood
47	chr5:40826000-40832200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr5:40826000-40833200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:40826000-40833200	Strong transcription	Fetal Brain Female	brain
50	chr5:40826000-40833400	Strong transcription	Primary monocytes fromperipheralblood	blood

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