Variant report

Variant	rs10069507
Chromosome Location	chr5:43301801-43301802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43288467..43290159-chr5:43299881..43301853,2	K562	blood:
2	chr5:43300967..43302712-chr5:43482910..43485640,2	K562	blood:
3	chr5:43288589..43291497-chr5:43300001..43302646,2	MCF-7	breast:
4	chr5:43301271..43304105-chr5:43306951..43309047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000261604	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10037706	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10043148	1.00[CEU][hapmap]
rs10054415	1.00[CEU][hapmap]
rs10056437	1.00[CEU][hapmap]
rs10060213	0.92[EUR][1000 genomes]
rs10062598	1.00[CEU][hapmap]
rs10067763	1.00[CEU][hapmap]
rs10473306	1.00[CEU][hapmap]
rs10473308	1.00[CEU][hapmap]
rs16874093	1.00[CEU][hapmap]
rs16874094	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs28738834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6865440	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6868860	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6884349	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6887169	1.00[MEX][hapmap]
rs6894240	1.00[CEU][hapmap]
rs6895237	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7710717	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7729140	1.00[CEU][hapmap]
rs7729145	1.00[CEU][hapmap]
rs7733732	1.00[CEU][hapmap]
rs9292869	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9292870	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9292872	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9292875	1.00[CEU][hapmap]

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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43285600-43302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:43285600-43302800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr5:43286400-43302200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:43286400-43302400	Strong transcription	GM12878-XiMat	blood
6	chr5:43286600-43303000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:43286600-43303000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr5:43286800-43302400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:43286800-43302600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:43286800-43302600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:43286800-43304400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:43287000-43302800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:43287000-43305000	Strong transcription	HUVEC	blood vessel
14	chr5:43287400-43302600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:43287400-43302800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:43287600-43302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:43287800-43303600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr5:43288200-43312400	Weak transcription	Spleen	Spleen
19	chr5:43288600-43310000	Weak transcription	Aorta	Aorta
20	chr5:43288800-43303600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:43289600-43303800	Strong transcription	Primary B cells from cord blood	blood
22	chr5:43290400-43302400	Strong transcription	Primary T cells from cord blood	blood
23	chr5:43291600-43302800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:43294200-43302800	Weak transcription	Pancreas	Pancrea
25	chr5:43294200-43303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:43294200-43312400	Weak transcription	Thymus	Thymus
27	chr5:43294600-43309400	Weak transcription	Lung	lung
28	chr5:43295600-43311800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:43296000-43303800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:43296800-43302000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:43297400-43302000	Weak transcription	Brain Angular Gyrus	brain
32	chr5:43297400-43304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:43297400-43312200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:43297400-43312400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:43297600-43302400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:43297600-43302400	Weak transcription	Brain Substantia Nigra	brain
37	chr5:43297600-43311800	Weak transcription	Hela-S3	cervix
38	chr5:43297800-43304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:43298200-43302000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:43298600-43310200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:43298800-43302000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:43298800-43302400	Weak transcription	Brain Germinal Matrix	brain
43	chr5:43298800-43304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:43298800-43306200	Weak transcription	Brain Anterior Caudate	brain
45	chr5:43298800-43306200	Weak transcription	Fetal Kidney	kidney
46	chr5:43298800-43310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:43298800-43311600	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:43298800-43312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:43299000-43302200	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:43299000-43302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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