Variant report

Variant	rs13134084
Chromosome Location	chr4:88028940-88028941
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87927805..87929886-chr4:88027084..88029698,4	MCF-7	breast:
2	chr4:88022117..88024925-chr4:88027985..88030710,2	K562	blood:
3	chr4:87812118..87814923-chr4:88028471..88030564,2	K562	blood:
4	chr4:88024363..88026324-chr4:88027975..88030672,2	K562	blood:
5	chr4:88026944..88029888-chr4:88036043..88037768,2	MCF-7	breast:
6	chr4:88021442..88026056-chr4:88026505..88030511,4	MCF-7	breast:
7	chr4:88027865..88029794-chr4:88040230..88042955,3	MCF-7	breast:
8	chr4:87849195..87851661-chr4:88027634..88030050,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10003331	1.00[ASN][1000 genomes]
rs10015544	1.00[ASN][1000 genomes]
rs10022825	1.00[ASN][1000 genomes]
rs10032200	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10050309	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1037813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945520	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12508231	1.00[ASN][1000 genomes]
rs13103234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108043	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012304	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17030453	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604937	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668731	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703261	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230858	1.00[ASN][1000 genomes]
rs28495374	1.00[ASN][1000 genomes]
rs28667805	1.00[ASN][1000 genomes]
rs28791499	1.00[ASN][1000 genomes]
rs35658582	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849753	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs366327	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4079	1.00[ASN][1000 genomes]
rs4305486	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56656813	1.00[ASN][1000 genomes]
rs57455613	1.00[ASN][1000 genomes]
rs57954253	1.00[ASN][1000 genomes]
rs58336541	1.00[ASN][1000 genomes]
rs58478399	1.00[ASN][1000 genomes]
rs59395199	1.00[ASN][1000 genomes]
rs59526367	1.00[ASN][1000 genomes]
rs62306540	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531974	1.00[ASN][1000 genomes]
rs6817981	1.00[ASN][1000 genomes]
rs6822384	1.00[ASN][1000 genomes]
rs6834947	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6846149	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6846352	1.00[ASN][1000 genomes]
rs6850337	1.00[ASN][1000 genomes]
rs71607404	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72877916	1.00[ASN][1000 genomes]
rs72877918	1.00[ASN][1000 genomes]
rs73839171	1.00[ASN][1000 genomes]
rs7664479	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7668285	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7686034	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	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87995200-88029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:88011800-88032800	Weak transcription	Colonic Mucosa	Colon
4	chr4:88015200-88029200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:88015800-88035400	Weak transcription	Right Ventricle	heart
6	chr4:88018600-88029200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:88018600-88034200	Weak transcription	Fetal Stomach	stomach
8	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:88021000-88029200	Weak transcription	Ovary	ovary
10	chr4:88021000-88034200	Weak transcription	Spleen	Spleen
11	chr4:88021200-88029200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:88021600-88029200	Weak transcription	Right Atrium	heart
13	chr4:88021600-88036600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:88021600-88037800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:88021800-88029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:88021800-88029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:88021800-88029400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:88021800-88036000	Weak transcription	Brain Angular Gyrus	brain
19	chr4:88023800-88029200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:88024400-88029200	Enhancers	Fetal Intestine Large	intestine
21	chr4:88025000-88029200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:88025000-88031200	Strong transcription	GM12878-XiMat	blood
23	chr4:88025200-88029000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:88025600-88029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:88025600-88029200	Weak transcription	Esophagus	oesophagus
26	chr4:88025600-88029200	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:88025600-88029200	Weak transcription	Gastric	stomach
28	chr4:88025600-88029200	Weak transcription	Pancreas	Pancrea
29	chr4:88025600-88030200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:88025600-88034200	Weak transcription	Lung	lung
31	chr4:88025600-88035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:88025600-88035800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:88025800-88029400	Weak transcription	Small Intestine	intestine
34	chr4:88026200-88029200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:88026200-88030600	Strong transcription	K562	blood
36	chr4:88026200-88031800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:88026200-88042200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:88026400-88029200	Strong transcription	Placenta	Placenta
39	chr4:88026400-88029400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:88026400-88030600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:88026400-88030600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:88026400-88030600	Strong transcription	Dnd41	blood
43	chr4:88026400-88031200	Strong transcription	Primary B cells from cord blood	blood
44	chr4:88026400-88042400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:88026600-88030800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr4:88026600-88031800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:88026600-88031800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:88026600-88031800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:88026600-88033600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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