Variant report

Variant	rs6897604
Chromosome Location	chr5:43540512-43540513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43540433..43542729-chr5:43600683..43602719,2	K562	blood:
2	chr5:43536689..43538647-chr5:43540263..43543098,2	K562	blood:
3	chr5:43538445..43540709-chr5:43556299..43558790,2	MCF-7	breast:
4	chr5:43539190..43540751-chr5:43541296..43543781,2	K562	blood:
5	chr5:43530940..43532727-chr5:43538187..43541049,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10044743	1.00[ASN][1000 genomes]
rs10051788	1.00[ASN][1000 genomes]
rs10054311	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10067571	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10071090	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10074298	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10085107	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10472384	1.00[AMR][1000 genomes]
rs10473314	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13155023	1.00[ASN][1000 genomes]
rs13357169	1.00[ASN][1000 genomes]
rs16873315	1.00[ASN][1000 genomes]
rs28368979	1.00[ASN][1000 genomes]
rs28412681	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28451719	1.00[ASN][1000 genomes]
rs28502686	1.00[ASN][1000 genomes]
rs28710329	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34574158	1.00[ASN][1000 genomes]
rs35748848	1.00[ASN][1000 genomes]
rs36097388	1.00[ASN][1000 genomes]
rs4616901	1.00[ASN][1000 genomes]
rs56729517	1.00[ASN][1000 genomes]
rs58107242	1.00[ASN][1000 genomes]
rs58142433	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58622160	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71629106	1.00[ASN][1000 genomes]
rs73751088	1.00[ASN][1000 genomes]
rs73751089	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751745	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751749	1.00[ASN][1000 genomes]
rs73754741	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73754743	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7732460	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9292885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	esv3451255	chr5:43539155-43541826	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 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	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:43523400-43551000	Strong transcription	Liver	Liver
6	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:43525600-43541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:43527200-43543400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:43527200-43543400	Strong transcription	Adipose Nuclei	Adipose
21	chr5:43527200-43548200	Strong transcription	HUVEC	blood vessel
22	chr5:43527200-43550400	Strong transcription	Dnd41	blood
23	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:43527400-43552400	Strong transcription	Hela-S3	cervix
26	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:43527600-43541000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:43527600-43541200	Strong transcription	NH-A	brain
29	chr5:43527600-43548800	Strong transcription	HSMM	muscle
30	chr5:43527600-43550400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:43527600-43550800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:43527600-43550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
36	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:43527800-43549000	Strong transcription	Osteobl	bone
38	chr5:43527800-43552400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:43528000-43541200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:43530200-43552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:43532200-43540800	Strong transcription	HMEC	breast
43	chr5:43532200-43552200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:43532400-43548800	Strong transcription	Placenta	Placenta
45	chr5:43532800-43552400	Strong transcription	Fetal Intestine Large	intestine
46	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr5:43533000-43549000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:43533000-43551400	Strong transcription	Fetal Lung	lung
49	chr5:43534200-43550600	Weak transcription	Fetal Heart	heart
50	chr5:43534400-43541000	Strong transcription	Primary T cells from cord blood	blood

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