Variant report

Variant	rs73806851
Chromosome Location	chr5:178488370-178488371
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178487796..178490140-chr5:178490313..178493225,2	MCF-7	breast:
2	chr5:178286798..178288918-chr5:178487242..178488938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178338	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57877055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73806854	0.95[AFR][1000 genomes];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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178486600-178488600	Active TSS	Fetal Kidney	kidney
2	chr5:178486600-178489000	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:178486800-178488400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr5:178486800-178488400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:178486800-178488400	Active TSS	HSMM	muscle
6	chr5:178486800-178488600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:178486800-178488600	Active TSS	HSMMtube	muscle
8	chr5:178487000-178488400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:178487000-178488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:178487000-178488800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:178487000-178490000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:178487000-178497600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr5:178487600-178488400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:178487600-178488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:178487600-178488600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr5:178487800-178488400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr5:178487800-178488400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr5:178487800-178488400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr5:178487800-178488400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr5:178487800-178488400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:178487800-178488400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr5:178487800-178488400	Flanking Active TSS	Esophagus	oesophagus
23	chr5:178487800-178488400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr5:178487800-178488400	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr5:178487800-178488400	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr5:178487800-178488400	Flanking Active TSS	Left Ventricle	heart
27	chr5:178487800-178488400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr5:178487800-178488400	Flanking Active TSS	Right Atrium	heart
29	chr5:178487800-178488400	Flanking Active TSS	Spleen	Spleen
30	chr5:178487800-178488400	Flanking Active TSS	HMEC	breast
31	chr5:178487800-178488400	Flanking Active TSS	NHEK	skin
32	chr5:178487800-178488600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:178487800-178488600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr5:178487800-178488600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:178487800-178488600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:178487800-178488600	Flanking Active TSS	Liver	Liver
37	chr5:178487800-178488600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:178487800-178488800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:178487800-178488800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr5:178487800-178488800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr5:178487800-178488800	Flanking Active TSS	Pancreas	Pancrea
42	chr5:178487800-178488800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr5:178487800-178488800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr5:178487800-178490200	ZNF genes & repeats	Fetal Thymus	thymus
45	chr5:178488000-178488400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:178488000-178488400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr5:178488000-178488400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:178488000-178488400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:178488000-178488400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr5:178488000-178488400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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