Variant report

Variant	rs2973347
Chromosome Location	chr5:80876359-80876360
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	chr5:80874625..80877374-chr5:81570400..81571959,2	K562	blood:
2	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10942269	0.85[LWK][hapmap]
rs12153000	0.85[TSI][hapmap]
rs2917541	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2917543	0.87[ASN][1000 genomes]
rs2917545	1.00[ASW][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2921499	0.82[CHB][hapmap]
rs2972227	0.90[CHB][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2972228	0.91[AMR][1000 genomes]
rs2972230	0.88[TSI][hapmap]
rs2972232	0.87[AMR][1000 genomes]
rs2972237	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2972238	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2972239	0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2972241	0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2972244	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2972245	0.84[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2973335	1.00[ASW][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2973336	0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2973341	0.87[ASW][hapmap];0.89[GIH][hapmap];0.83[LWK][hapmap];0.88[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2973343	0.84[GIH][hapmap];0.88[TSI][hapmap]
rs2973345	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2973346	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2973350	0.84[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs388560	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3943733	0.81[CHB][hapmap]
rs406465	1.00[ASW][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs417684	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs433118	0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs4426897	1.00[YRI][hapmap]
rs4513668	0.85[LWK][hapmap]
rs4519906	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs454578	0.84[CHB][hapmap]
rs62366265	0.87[ASN][1000 genomes]
rs6452419	1.00[YRI][hapmap]
rs6874029	0.85[LWK][hapmap]
rs7709916	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462221	chr5:80834138-80883110	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv598751	chr5:80834138-80883110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525225	chr5:80849084-80883110	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	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
5	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80840800-80883400	Weak transcription	HSMM	muscle
2	chr5:80840800-80884600	Weak transcription	Ovary	ovary
3	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
6	chr5:80860200-80878800	Weak transcription	Esophagus	oesophagus
7	chr5:80862800-80878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
10	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:80869400-80887600	Weak transcription	Fetal Stomach	stomach
12	chr5:80869800-80886400	Weak transcription	Thymus	Thymus
13	chr5:80870000-80887600	Weak transcription	Aorta	Aorta
14	chr5:80870600-80883000	Weak transcription	Fetal Thymus	thymus
15	chr5:80870600-80886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:80871200-80876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:80871400-80876400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:80875200-80876400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:80875400-80877200	Genic enhancers	Dnd41	blood
21	chr5:80875400-80880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:80875600-80877000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:80875600-80886800	Weak transcription	Brain Anterior Caudate	brain
24	chr5:80875600-80894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:80875600-80894200	Weak transcription	GM12878-XiMat	blood
26	chr5:80876000-80877000	Weak transcription	Fetal Brain Female	brain
27	chr5:80876000-80878800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:80876000-80880200	Weak transcription	HUVEC	blood vessel
29	chr5:80876000-80880400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:80876000-80885600	Weak transcription	Primary T cells from cord blood	blood
31	chr5:80876000-80894200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:80876200-80876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:80876200-80880200	Weak transcription	Primary hematopoietic stem cells	blood

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