Variant report

Variant	rs10071090
Chromosome Location	chr5:43529070-43529071
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43524169..43526284-chr5:43529036..43531256,3	K562	blood:
2	chr5:43527365..43529512-chr5:43530585..43533160,3	MCF-7	breast:
3	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
4	chr5:43482304..43485301-chr5:43526863..43529089,3	K562	blood:
5	chr5:43121477..43123542-chr5:43528302..43530920,2	MCF-7	breast:
6	chr5:43528692..43531315-chr5:43553476..43557686,3	MCF-7	breast:
7	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:
8	chr5:43523885..43526078-chr5:43527062..43529284,2	K562	blood:
9	chr5:43528925..43530823-chr5:43555438..43557032,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172262	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

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]
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	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6897604	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71627599	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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751705	0.83[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
2	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
3	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:43516200-43532800	Weak transcription	Fetal Heart	heart
7	chr5:43516200-43533600	Weak transcription	Brain Substantia Nigra	brain
8	chr5:43516200-43534200	Weak transcription	Stomach Mucosa	stomach
9	chr5:43516400-43534000	Weak transcription	Pancreas	Pancrea
10	chr5:43520600-43529400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:43522200-43534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:43523400-43551000	Strong transcription	Liver	Liver
17	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:43524000-43540200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:43524200-43539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:43524600-43530200	Weak transcription	Psoas Muscle	Psoas
26	chr5:43524600-43533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:43524800-43529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:43524800-43529400	Weak transcription	Fetal Stomach	stomach
29	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:43525000-43531400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:43525600-43541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:43525800-43530200	Weak transcription	Brain Germinal Matrix	brain
36	chr5:43526000-43529400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:43526000-43529600	Weak transcription	Ovary	ovary
38	chr5:43526000-43529800	Weak transcription	Primary T cells from cord blood	blood
39	chr5:43526000-43530000	Weak transcription	Lung	lung
40	chr5:43526000-43530200	Weak transcription	Fetal Brain Female	brain
41	chr5:43526000-43530400	Weak transcription	Thymus	Thymus
42	chr5:43526000-43533200	Weak transcription	Spleen	Spleen
43	chr5:43526000-43533800	Weak transcription	Right Ventricle	heart
44	chr5:43526000-43534000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:43526000-43534000	Weak transcription	Aorta	Aorta
46	chr5:43526000-43534000	Weak transcription	Gastric	stomach
47	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:43526200-43530000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:43526200-43533600	Weak transcription	Brain Angular Gyrus	brain

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