Variant report

Variant	rs7378831
Chromosome Location	chr5:178995292-178995293
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178992676..178996882-chr5:179050015..179052234,4	K562	blood:
2	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:
3	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:

Variant related genes	Relation type
ENSG00000176783	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10036118	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057868	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064557	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521172	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522890	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13361148	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28510162	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607444	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611242	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075891	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700810	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701134	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601052	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7447429	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329083	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329084	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
9	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr5:178981200-178996200	Weak transcription	K562	blood
2	chr5:178986400-179000400	Strong transcription	Dnd41	blood
3	chr5:178987200-178995800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:178987400-178995600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:178987400-178995800	Weak transcription	Fetal Heart	heart
7	chr5:178987400-178996000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:178987400-178996000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:178987400-178996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:178987400-178997400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:178987400-179000000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:178987400-179000200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
14	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
16	chr5:178987800-178995800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:178987800-178999800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:178987800-179000000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:178987800-179006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:178987800-179006800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:178987800-179009600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:178987800-179012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:178987800-179017000	Strong transcription	Osteobl	bone
24	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:178988000-178995600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:178988000-179000200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:178988000-179000400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr5:178988000-179000400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:178988000-179004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:178988000-179006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:178988000-179009600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:178988200-178997400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:178988200-178999200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:178988200-178999200	Strong transcription	Liver	Liver
36	chr5:178988200-178999800	Strong transcription	Fetal Intestine Large	intestine
37	chr5:178988200-179000400	Strong transcription	HepG2	liver
38	chr5:178988200-179003400	Strong transcription	Placenta	Placenta
39	chr5:178988400-178995600	Strong transcription	Adipose Nuclei	Adipose
40	chr5:178988400-179000000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr5:178988400-179002800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:178988400-179006200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:178988400-179006600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:178988400-179010200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:178988600-178999800	Strong transcription	Brain Anterior Caudate	brain
46	chr5:178988800-179003200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr5:178989000-179000200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:178989000-179000200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:178989000-179000600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:178989000-179001000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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