Variant report

Variant	rs6894240
Chromosome Location	chr5:43291532-43291533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43119678..43122603-chr5:43290222..43292201,2	K562	blood:
2	chr5:43286983..43288744-chr5:43291161..43294149,3	K562	blood:
3	chr5:43290292..43291881-chr5:43423883..43426499,2	K562	blood:
4	chr5:43290130..43293263-chr5:43311946..43314740,3	MCF-7	breast:
5	chr5:43119678..43121800-chr5:43289827..43291722,2	K562	blood:
6	chr5:43286983..43288744-chr5:43291161..43294149,2	K562	blood:

Variant related genes	Relation type
ENSG00000261604	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10037409	0.82[AFR][1000 genomes]
rs10037706	1.00[CEU][hapmap]
rs10038859	0.82[AFR][1000 genomes]
rs10040897	0.82[AFR][1000 genomes]
rs10043148	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs10054415	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs10056437	1.00[CEU][hapmap]
rs10062598	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs10064967	0.82[AFR][1000 genomes]
rs10067763	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10069507	1.00[CEU][hapmap]
rs10077324	0.85[AFR][1000 genomes]
rs10079530	0.82[AFR][1000 genomes]
rs10473306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10473308	1.00[CEU][hapmap]
rs11955467	0.82[AFR][1000 genomes]
rs1478436	1.00[AFR][1000 genomes]
rs16874093	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16874094	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs28608156	0.85[AFR][1000 genomes]
rs28856961	0.82[AFR][1000 genomes]
rs4326149	0.94[AFR][1000 genomes]
rs55645370	0.84[AFR][1000 genomes]
rs6865440	0.81[YRI][hapmap]
rs6884349	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs6893898	0.91[AFR][1000 genomes]
rs6895237	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs7356654	0.82[AFR][1000 genomes]
rs73751075	0.94[AFR][1000 genomes]
rs73751078	0.82[AFR][1000 genomes]
rs7710717	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7715267	0.84[AFR][1000 genomes]
rs7729140	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7729145	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7733732	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs9292869	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9292870	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs9292872	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9292875	1.00[CEU][hapmap]

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	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	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43282800-43292800	Weak transcription	Hela-S3	cervix
2	chr5:43284200-43294000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43285000-43293400	Weak transcription	Pancreas	Pancrea
5	chr5:43285000-43300800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:43285200-43294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:43285400-43291600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:43285400-43291600	Weak transcription	Fetal Kidney	kidney
9	chr5:43285400-43292000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:43285400-43292600	Weak transcription	Fetal Brain Male	brain
11	chr5:43285600-43291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:43285600-43293400	Weak transcription	Colonic Mucosa	Colon
13	chr5:43285600-43300000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:43285600-43302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:43285600-43302800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:43285800-43291800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:43286200-43291600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:43286200-43295600	Strong transcription	HSMMtube	muscle
19	chr5:43286200-43298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:43286200-43300600	Strong transcription	Fetal Intestine Large	intestine
21	chr5:43286400-43302200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:43286400-43302400	Strong transcription	GM12878-XiMat	blood
23	chr5:43286600-43291800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:43286600-43293200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:43286600-43293200	Strong transcription	Brain Substantia Nigra	brain
26	chr5:43286600-43296400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:43286600-43300400	Strong transcription	Fetal Thymus	thymus
28	chr5:43286600-43300800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:43286600-43301000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:43286600-43301400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:43286600-43303000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:43286600-43303000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr5:43286800-43291600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:43286800-43294200	Strong transcription	NHDF-Ad	bronchial
35	chr5:43286800-43294400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:43286800-43294600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:43286800-43294600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:43286800-43297000	Strong transcription	Liver	Liver
39	chr5:43286800-43297400	Strong transcription	Dnd41	blood
40	chr5:43286800-43300000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:43286800-43300400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:43286800-43300400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:43286800-43301000	Strong transcription	K562	blood
44	chr5:43286800-43301400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:43286800-43301800	Strong transcription	HMEC	breast
46	chr5:43286800-43302400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:43286800-43302600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:43286800-43302600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:43286800-43304400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:43287000-43292400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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