Variant report

Variant	rs34360628
Chromosome Location	chr5:179014452-179014453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179012467..179014455-chr5:179037577..179039741,2	K562	blood:
2	chr5:179013253..179015631-chr5:179049982..179051581,2	MCF-7	breast:
3	chr5:179013908..179017053-chr5:179048415..179051520,3	K562	blood:
4	chr5:179011326..179015421-chr5:179015501..179018945,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176783	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11541392	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11541393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13159541	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13178278	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13179100	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13179141	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13182022	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13188643	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13189491	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13189501	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17052463	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28526620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155714	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34436769	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35443996	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35654688	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66890351	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66946955	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66965803	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67550210	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67760891	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67772277	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67799282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68054433	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73330342	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73330351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73336105	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
7	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
8	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
9	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
10	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
11	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
4	chr5:178987800-179017000	Strong transcription	Osteobl	bone
5	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
6	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:178991200-179016600	Weak transcription	Stomach Mucosa	stomach
8	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:178997600-179020200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:178999800-179034800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:179000000-179034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:179000400-179022800	Weak transcription	Fetal Heart	heart
14	chr5:179002200-179017000	Strong transcription	Brain Germinal Matrix	brain
15	chr5:179002200-179022800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
17	chr5:179003200-179015200	Weak transcription	Fetal Brain Male	brain
18	chr5:179003200-179016400	Weak transcription	HSMMtube	muscle
19	chr5:179005000-179032400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr5:179006200-179019600	Weak transcription	Hela-S3	cervix
21	chr5:179007400-179016800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:179007400-179030200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr5:179007400-179033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:179007400-179034800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179007400-179035200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:179007400-179035200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
29	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:179007600-179034400	Strong transcription	Thymus	Thymus
31	chr5:179008200-179015600	Strong transcription	Ovary	ovary
32	chr5:179008200-179032800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:179008400-179019600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:179008800-179020600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:179010000-179034600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:179010800-179034000	Strong transcription	Fetal Thymus	thymus
37	chr5:179011000-179017800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:179011000-179034200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:179011200-179030400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:179011200-179034000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:179011400-179017200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:179011600-179017200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:179012000-179017600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:179012000-179031600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr5:179012200-179027800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:179012200-179029800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:179012200-179034600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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