Variant report

Variant	rs73806852
Chromosome Location	chr5:178488637-178488638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178488576..178490984-chr5:178494204..178495758,2	MCF-7	breast:
2	chr5:178483141..178486203-chr5:178488375..178491712,3	MCF-7	breast:
3	chr5:178487796..178490140-chr5:178490313..178493225,2	MCF-7	breast:
4	chr5:178488531..178490916-chr5:178493267..178496128,2	MCF-7	breast:
5	chr5:178286798..178288918-chr5:178487242..178488938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178338	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs55691377	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56100628	1.00[AMR][1000 genomes]
rs57255683	1.00[AMR][1000 genomes]
rs57743844	1.00[AMR][1000 genomes]
rs58269428	1.00[AMR][1000 genomes]
rs58334712	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58341826	1.00[AMR][1000 genomes]
rs58812551	1.00[AMR][1000 genomes]
rs73805397	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806847	1.00[AMR][1000 genomes]
rs73806850	1.00[AMR][1000 genomes]
rs73806870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806873	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806876	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806877	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806887	1.00[AMR][1000 genomes]
rs73806890	1.00[AMR][1000 genomes]
rs73806891	1.00[AMR][1000 genomes]
rs73806892	1.00[AMR][1000 genomes]
rs73806893	1.00[AMR][1000 genomes]
rs73806894	1.00[AMR][1000 genomes]
rs73806908	1.00[AMR][1000 genomes]
rs73806909	1.00[AMR][1000 genomes]
rs73806911	1.00[AMR][1000 genomes]
rs73806913	1.00[AMR][1000 genomes]
rs73806914	1.00[AMR][1000 genomes]
rs73806915	1.00[AMR][1000 genomes]
rs73807256	1.00[AMR][1000 genomes]
rs73807257	1.00[AMR][1000 genomes]
rs73807258	1.00[AMR][1000 genomes]
rs73807262	1.00[AMR][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	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	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
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1018650	chr5:178428743-178515196	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1024994	chr5:178429975-178505167	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1025616	chr5:178429975-178515196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027487	chr5:178455495-178510587	Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178486600-178489000	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:178487000-178488800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:178487000-178490000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:178487000-178497600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr5:178487800-178488800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:178487800-178488800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr5:178487800-178488800	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr5:178487800-178488800	Flanking Active TSS	Pancreas	Pancrea
9	chr5:178487800-178488800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr5:178487800-178488800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr5:178487800-178490200	ZNF genes & repeats	Fetal Thymus	thymus
12	chr5:178488000-178488800	Flanking Active TSS	Ovary	ovary
13	chr5:178488000-178488800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:178488000-178489200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr5:178488000-178489400	Weak transcription	Aorta	Aorta
16	chr5:178488000-178491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:178488000-178493000	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr5:178488200-178488800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:178488200-178488800	Enhancers	Gastric	stomach
20	chr5:178488200-178489000	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:178488200-178489000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:178488200-178489000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:178488200-178489000	Enhancers	Placenta	Placenta
24	chr5:178488200-178489200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:178488200-178489200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:178488200-178491000	Weak transcription	Small Intestine	intestine
27	chr5:178488200-178491200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:178488200-178491200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr5:178488200-178493200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:178488200-178493200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr5:178488200-178511000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:178488400-178488800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:178488400-178488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:178488400-178488800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr5:178488400-178488800	Active TSS	Colonic Mucosa	Colon
36	chr5:178488400-178488800	Enhancers	Esophagus	oesophagus
37	chr5:178488400-178488800	Enhancers	Fetal Muscle Trunk	muscle
38	chr5:178488400-178488800	Enhancers	Left Ventricle	heart
39	chr5:178488400-178488800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:178488400-178488800	Enhancers	Right Atrium	heart
41	chr5:178488400-178488800	Enhancers	Right Ventricle	heart
42	chr5:178488400-178489000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr5:178488400-178489000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:178488400-178489000	Enhancers	Psoas Muscle	Psoas
45	chr5:178488400-178489000	ZNF genes & repeats	Thymus	Thymus
46	chr5:178488400-178489200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:178488400-178489200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:178488400-178489200	Weak transcription	Fetal Intestine Large	intestine
49	chr5:178488400-178489200	Enhancers	Spleen	Spleen
50	chr5:178488400-178489400	ZNF genes & repeats	NHDF-Ad	bronchial

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