Variant report

Variant	rs10042303
Chromosome Location	chr5:80810692-80810693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80810187..80812295-chr5:80817394..80821079,3	K562	blood:
2	chr5:80810454..80812112-chr5:80812984..80815281,2	K562	blood:
3	chr5:80808501..80811000-chr5:81045914..81048051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10035291	0.83[ASN][1000 genomes]
rs10036712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10041030	0.90[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10042201	0.90[CHB][hapmap]
rs10056711	0.84[ASN][1000 genomes]
rs10068144	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10075648	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10454898	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10474031	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10942266	0.85[ASN][1000 genomes]
rs10942267	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs10942269	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11739075	0.80[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs11740719	1.00[CHB][hapmap]
rs11949697	1.00[CHB][hapmap]
rs12153000	1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12188888	0.82[ASN][1000 genomes]
rs12515751	0.80[CEU][hapmap]
rs12697705	0.90[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13159500	0.90[ASN][1000 genomes]
rs13171682	0.87[ASN][1000 genomes]
rs13182474	0.81[CEU][hapmap]
rs1541830	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2162973	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs2396170	0.84[ASN][1000 genomes]
rs2972230	0.92[JPT][hapmap];0.88[YRI][hapmap]
rs2972245	0.85[JPT][hapmap]
rs2973341	0.85[JPT][hapmap]
rs2973343	0.92[JPT][hapmap];0.88[YRI][hapmap]
rs2973350	0.85[JPT][hapmap]
rs35224297	0.83[ASN][1000 genomes]
rs3805726	1.00[CHB][hapmap]
rs4274955	0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4283765	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4392600	0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4426897	0.80[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513668	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4626317	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6452407	0.83[ASN][1000 genomes]
rs6452410	0.84[ASN][1000 genomes]
rs6452411	0.85[JPT][hapmap]
rs6452412	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6452414	0.92[JPT][hapmap]
rs6452415	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6452416	0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6452419	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6866155	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6866156	0.84[ASN][1000 genomes]
rs6867426	0.84[CEU][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6868422	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6868748	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6869288	0.85[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6870325	0.85[EUR][1000 genomes]
rs6871860	0.85[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6872775	0.80[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs6872793	0.83[ASN][1000 genomes]
rs6874029	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6877102	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6878037	0.92[JPT][hapmap]
rs6880200	0.84[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6883488	0.90[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6884862	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887937	0.90[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs6890850	0.89[CEU][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6891181	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6895882	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6896235	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6897189	0.90[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7702047	0.85[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7711020	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs7717663	0.80[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7719373	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7720123	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7720736	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7721321	0.81[CEU][hapmap]
rs7725126	0.83[ASN][1000 genomes]
rs7725320	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7733938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9293275	0.92[JPT][hapmap]
rs9596	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs964102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.86[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
3	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:80798200-80818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:80798400-80820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:80798400-80821400	Weak transcription	Thymus	Thymus
10	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:80802000-80819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:80802600-80812200	Weak transcription	Aorta	Aorta
13	chr5:80802600-80812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:80802600-80812200	Weak transcription	HSMM	muscle
15	chr5:80802600-80812200	Weak transcription	NHDF-Ad	bronchial
16	chr5:80802600-80819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:80802800-80812200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
19	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
20	chr5:80803600-80812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
22	chr5:80804200-80811800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:80807600-80813400	Weak transcription	Brain Germinal Matrix	brain
24	chr5:80808400-80811400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:80808400-80815200	Weak transcription	Dnd41	blood
26	chr5:80808600-80818600	Weak transcription	Fetal Thymus	thymus
27	chr5:80809400-80813200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:80809400-80813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:80809600-80820200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:80809800-80820000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:80810400-80811000	Enhancers	Pancreatic Islets	Pancreatic Islet

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