Variant report

Variant	rs34497448
Chromosome Location	chr5:43302460-43302461
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43300967..43302712-chr5:43482910..43485640,2	K562	blood:
2	chr5:43288589..43291497-chr5:43300001..43302646,2	MCF-7	breast:
3	chr5:43301271..43304105-chr5:43306951..43309047,2	MCF-7	breast:
4	chr5:43302405..43303937-chr5:43306686..43309193,2	K562	blood:

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

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10044743	1.00[ASN][1000 genomes]
rs10054311	1.00[ASN][1000 genomes]
rs10067571	1.00[ASN][1000 genomes]
rs10074298	1.00[ASN][1000 genomes]
rs10085107	1.00[ASN][1000 genomes]
rs10462049	1.00[EUR][1000 genomes]
rs10473314	1.00[ASN][1000 genomes]
rs10941618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155023	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13155622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167052	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13168456	1.00[AMR][1000 genomes]
rs13169908	1.00[AMR][1000 genomes]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13186439	1.00[AMR][1000 genomes]
rs16873315	1.00[ASN][1000 genomes]
rs28368979	1.00[ASN][1000 genomes]
rs28412681	1.00[ASN][1000 genomes]
rs28451719	1.00[ASN][1000 genomes]
rs28502686	1.00[ASN][1000 genomes]
rs28710329	1.00[ASN][1000 genomes]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34238140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34379498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34574158	1.00[ASN][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34965256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142013	1.00[AMR][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35748848	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4616901	1.00[ASN][1000 genomes]
rs56729517	1.00[ASN][1000 genomes]
rs71590642	1.00[AMR][1000 genomes]
rs71627597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71627599	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71627600	1.00[AMR][1000 genomes]
rs71629106	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751088	1.00[ASN][1000 genomes]
rs73751089	1.00[ASN][1000 genomes]
rs73754741	1.00[ASN][1000 genomes]
rs73754743	1.00[ASN][1000 genomes]
rs7732460	1.00[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	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:126 , 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	chr5:43285600-43302800	Strong transcription	Duodenum Mucosa	Duodenum
3	chr5:43286600-43303000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:43286600-43303000	Strong transcription	Primary hematopoietic stem cells	blood
5	chr5:43286800-43302600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:43286800-43302600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:43286800-43304400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:43287000-43302800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:43287000-43305000	Strong transcription	HUVEC	blood vessel
10	chr5:43287400-43302600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:43287400-43302800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:43287800-43303600	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr5:43288200-43312400	Weak transcription	Spleen	Spleen
14	chr5:43288600-43310000	Weak transcription	Aorta	Aorta
15	chr5:43288800-43303600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:43289600-43303800	Strong transcription	Primary B cells from cord blood	blood
17	chr5:43291600-43302800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:43294200-43302800	Weak transcription	Pancreas	Pancrea
19	chr5:43294200-43303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:43294200-43312400	Weak transcription	Thymus	Thymus
21	chr5:43294600-43309400	Weak transcription	Lung	lung
22	chr5:43295600-43311800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:43296000-43303800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:43297400-43304200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:43297400-43312200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:43297400-43312400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:43297600-43311800	Weak transcription	Hela-S3	cervix
28	chr5:43297800-43304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:43298600-43310200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:43298800-43304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:43298800-43306200	Weak transcription	Brain Anterior Caudate	brain
32	chr5:43298800-43306200	Weak transcription	Fetal Kidney	kidney
33	chr5:43298800-43310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:43298800-43311600	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:43298800-43312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:43299000-43302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:43299000-43302600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:43299000-43302800	Weak transcription	Psoas Muscle	Psoas
39	chr5:43299000-43302800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:43299000-43303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:43299000-43303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:43299000-43303200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:43299000-43304600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:43299000-43306400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:43299000-43307800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:43299000-43309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:43299000-43309400	Weak transcription	Gastric	stomach
48	chr5:43299000-43309800	Weak transcription	Colonic Mucosa	Colon
49	chr5:43299000-43312000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:43299000-43312200	Weak transcription	Rectal Smooth Muscle	rectum

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