Variant report

Variant	rs7719034
Chromosome Location	chr5:177639942-177639943
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176794997..176797773-chr5:177639654..177641583,2	K562	blood:
2	chr5:177593073..177594908-chr5:177637953..177640506,2	K562	blood:
3	chr16:67879672..67881514-chr5:177637910..177640641,2	K562	blood:
4	chr5:177637291..177640571-chr5:177674983..177676979,3	K562	blood:
5	chr5:177309586..177311487-chr5:177638508..177640439,2	K562	blood:
6	chr5:177501438..177504089-chr5:177638746..177641033,2	K562	blood:
7	chr5:177639629..177641549-chr5:179049204..179051358,2	K562	blood:
8	chr5:176937535..176940356-chr5:177639681..177642109,2	K562	blood:
9	chr5:177639899..177641495-chr5:177970061..177972011,2	K562	blood:
10	chr21:11180193..11181844-chr5:177639549..177642209,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102898	Chromatin interaction
ENSG00000169220	Chromatin interaction
ENSG00000234643	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000146094	Chromatin interaction
ENSG00000170089	Chromatin interaction
ENSG00000183258	Chromatin interaction
ENSG00000102901	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11747964	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56727222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57358849	1.00[ASN][1000 genomes]
rs57594195	0.95[ASN][1000 genomes]
rs58209854	1.00[ASN][1000 genomes]
rs61473059	0.95[ASN][1000 genomes]
rs6881230	0.85[ASN][1000 genomes]
rs6887384	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs6899207	0.85[ASN][1000 genomes]
rs73351260	1.00[ASN][1000 genomes]
rs7707147	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[MKK][hapmap];0.91[ASN][1000 genomes]
rs7718055	1.00[ASN][1000 genomes]
rs7727323	1.00[MEX][hapmap]
rs7730805	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking 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	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr5:177633000-177643000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:177633600-177643200	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr5:177633600-177644000	Genic enhancers	Fetal Intestine Large	intestine
4	chr5:177633800-177640000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:177633800-177641600	Strong transcription	Primary B cells from cord blood	blood
6	chr5:177633800-177642600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:177633800-177643400	Genic enhancers	Fetal Intestine Small	intestine
8	chr5:177633800-177643600	Strong transcription	Aorta	Aorta
9	chr5:177633800-177644000	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr5:177634000-177643800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:177634000-177644000	Strong transcription	Rectal Smooth Muscle	rectum
12	chr5:177634000-177650800	Strong transcription	Placenta	Placenta
13	chr5:177634200-177640600	Strong transcription	HSMMtube	muscle
14	chr5:177634200-177643000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:177634200-177644000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:177634400-177643200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:177634400-177643600	Strong transcription	Brain Angular Gyrus	brain
18	chr5:177634400-177643800	Strong transcription	Colon Smooth Muscle	Colon
19	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
20	chr5:177634600-177640200	Strong transcription	Brain Hippocampus Middle	brain
21	chr5:177634600-177641600	Strong transcription	Fetal Brain Male	brain
22	chr5:177634600-177642400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr5:177634600-177643000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:177634600-177643200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:177634600-177643600	Strong transcription	Brain Cingulate Gyrus	brain
26	chr5:177634600-177644200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr5:177634600-177644400	Strong transcription	Fetal Lung	lung
28	chr5:177634600-177646000	Strong transcription	Thymus	Thymus
29	chr5:177634800-177642800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:177634800-177645800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:177635000-177642400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:177635000-177643800	Strong transcription	Fetal Kidney	kidney
33	chr5:177635000-177644000	Strong transcription	Brain Anterior Caudate	brain
34	chr5:177635000-177647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:177635000-177650200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:177635000-177650400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:177635000-177650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:177635000-177650400	Strong transcription	Adipose Nuclei	Adipose
39	chr5:177635200-177640000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:177635200-177640000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:177635200-177641200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:177635200-177641400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:177635200-177642200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:177635200-177642200	Strong transcription	Lung	lung
45	chr5:177635200-177642200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:177635200-177642400	Weak transcription	Fetal Heart	heart
47	chr5:177635200-177642600	Genic enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:177635200-177642800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:177635200-177643800	Strong transcription	Brain Substantia Nigra	brain
50	chr5:177635200-177643800	Strong transcription	NHEK	skin

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