Variant report

Variant	rs57358849
Chromosome Location	chr5:177643137-177643138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177503347..177505646-chr5:177641521..177643362,2	MCF-7	breast:
2	chr5:177491831..177493394-chr5:177642121..177643667,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11738131	0.82[EUR][1000 genomes]
rs11740356	0.82[EUR][1000 genomes]
rs11747964	1.00[ASN][1000 genomes]
rs17639190	0.90[EUR][1000 genomes]
rs55812151	0.81[EUR][1000 genomes]
rs56727222	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	0.91[ASN][1000 genomes]
rs6899207	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73351260	1.00[ASN][1000 genomes]
rs7707147	0.91[ASN][1000 genomes]
rs7718055	1.00[ASN][1000 genomes]
rs7719034	1.00[ASN][1000 genomes]

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	chr5:177633600-177643200	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr5:177633600-177644000	Genic enhancers	Fetal Intestine Large	intestine
3	chr5:177633800-177643400	Genic enhancers	Fetal Intestine Small	intestine
4	chr5:177633800-177643600	Strong transcription	Aorta	Aorta
5	chr5:177633800-177644000	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr5:177634000-177643800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:177634000-177644000	Strong transcription	Rectal Smooth Muscle	rectum
8	chr5:177634000-177650800	Strong transcription	Placenta	Placenta
9	chr5:177634200-177644000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:177634400-177643200	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr5:177634400-177643600	Strong transcription	Brain Angular Gyrus	brain
12	chr5:177634400-177643800	Strong transcription	Colon Smooth Muscle	Colon
13	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
14	chr5:177634600-177643200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:177634600-177643600	Strong transcription	Brain Cingulate Gyrus	brain
16	chr5:177634600-177644200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr5:177634600-177644400	Strong transcription	Fetal Lung	lung
18	chr5:177634600-177646000	Strong transcription	Thymus	Thymus
19	chr5:177634800-177645800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:177635000-177643800	Strong transcription	Fetal Kidney	kidney
21	chr5:177635000-177644000	Strong transcription	Brain Anterior Caudate	brain
22	chr5:177635000-177647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:177635000-177650200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:177635000-177650400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:177635000-177650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:177635000-177650400	Strong transcription	Adipose Nuclei	Adipose
27	chr5:177635200-177643800	Strong transcription	Brain Substantia Nigra	brain
28	chr5:177635200-177643800	Strong transcription	NHEK	skin
29	chr5:177635200-177644000	Strong transcription	Esophagus	oesophagus
30	chr5:177635200-177644000	Strong transcription	Left Ventricle	heart
31	chr5:177635200-177644000	Strong transcription	Ovary	ovary
32	chr5:177635200-177644200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:177635200-177644200	Strong transcription	Fetal Thymus	thymus
34	chr5:177635200-177644200	Strong transcription	NHDF-Ad	bronchial
35	chr5:177635200-177644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:177635200-177644400	Strong transcription	HUVEC	blood vessel
37	chr5:177635200-177644800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:177635200-177645400	Strong transcription	Fetal Brain Female	brain
39	chr5:177635200-177646000	Strong transcription	NH-A	brain
40	chr5:177635400-177643800	Strong transcription	HMEC	breast
41	chr5:177635400-177644000	Strong transcription	NHLF	lung
42	chr5:177635400-177644200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:177635400-177644600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:177635400-177644800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:177635400-177646200	Strong transcription	Osteobl	bone
46	chr5:177635400-177646400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr5:177635400-177649200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:177635400-177651000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:177635600-177643200	Genic enhancers	Rectal Mucosa Donor 29	rectum
50	chr5:177635600-177644400	Strong transcription	HSMM	muscle

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