Variant report

Variant	rs62306540
Chromosome Location	chr4:88048863-88048864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88035142..88038021-chr4:88048853..88051462,2	K562	blood:
2	chr4:88047828..88050519-chr4:88051354..88053008,2	MCF-7	breast:
3	chr4:88048723..88050274-chr4:88159971..88161821,2	K562	blood:
4	chr4:88042535..88044743-chr4:88048673..88050393,2	K562	blood:
5	chr4:88002713..88005662-chr4:88048003..88049629,2	K562	blood:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

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[ASN][1000 genomes]
rs10050309	1.00[ASN][1000 genomes]
rs1037813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945520	1.00[ASN][1000 genomes]
rs12508231	1.00[ASN][1000 genomes]
rs13103234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134084	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012304	1.00[ASN][1000 genomes]
rs17030453	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604937	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17668731	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668952	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703261	1.00[AMR][1000 genomes];0.99[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849753	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs366327	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4079	1.00[ASN][1000 genomes]
rs4305486	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]
rs6531974	1.00[ASN][1000 genomes]
rs6817981	1.00[ASN][1000 genomes]
rs6822384	1.00[ASN][1000 genomes]
rs6834947	1.00[ASN][1000 genomes]
rs6846149	1.00[ASN][1000 genomes]
rs6846352	1.00[ASN][1000 genomes]
rs6850337	1.00[ASN][1000 genomes]
rs71607404	0.91[AMR][1000 genomes];0.88[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]
rs7662471	1.00[ASN][1000 genomes]
rs7664479	1.00[ASN][1000 genomes]
rs7668285	1.00[ASN][1000 genomes]
rs7676494	1.00[ASN][1000 genomes]
rs7686034	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	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	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:88026600-88055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:88030600-88057600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:88032800-88059000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:88035600-88056800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:88035600-88063800	Strong transcription	Primary T cells from cord blood	blood
8	chr4:88036400-88063600	Weak transcription	Fetal Brain Male	brain
9	chr4:88036800-88059200	Weak transcription	Fetal Brain Female	brain
10	chr4:88040000-88052000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:88042400-88049000	Strong transcription	HepG2	liver
12	chr4:88042800-88069400	Strong transcription	Placenta	Placenta
13	chr4:88043000-88061400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:88043400-88064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:88043600-88049000	Weak transcription	Right Atrium	heart
16	chr4:88043600-88064600	Strong transcription	GM12878-XiMat	blood
17	chr4:88043800-88049000	Weak transcription	Psoas Muscle	Psoas
18	chr4:88044000-88049400	Weak transcription	Fetal Heart	heart
19	chr4:88044400-88060800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:88044600-88059200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr4:88044600-88060200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:88044600-88061400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:88044600-88061600	Strong transcription	Fetal Intestine Large	intestine
24	chr4:88044600-88062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:88044600-88067600	Strong transcription	Primary B cells from cord blood	blood
26	chr4:88044800-88059400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr4:88044800-88061400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:88044800-88061600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:88045000-88060400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:88045200-88057800	Strong transcription	HUVEC	blood vessel
31	chr4:88045400-88050000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:88045600-88057600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:88045600-88058800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:88045600-88059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:88045600-88059600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:88045600-88060400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:88045600-88063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:88045600-88063800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:88045800-88049400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:88045800-88050400	Strong transcription	Colon Smooth Muscle	Colon
41	chr4:88045800-88050600	Strong transcription	K562	blood
42	chr4:88045800-88054000	Strong transcription	Left Ventricle	heart
43	chr4:88045800-88058200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:88045800-88059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:88045800-88059800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:88045800-88061200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:88045800-88061400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:88045800-88063000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:88045800-88067600	Strong transcription	Fetal Thymus	thymus
50	chr4:88046000-88049600	Strong transcription	Brain Substantia Nigra	brain

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