Variant report

Variant	rs73164236
Chromosome Location	chr5:99872354-99872355
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:99872016-99872461	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:99871520..99873605-chr5:99874648..99876676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247877	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11948597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958370	1.00[EUR][1000 genomes]
rs28704689	1.00[EUR][1000 genomes]
rs56789558	1.00[EUR][1000 genomes]
rs57557903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58571109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61509083	1.00[EUR][1000 genomes]
rs61550483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155148	1.00[EUR][1000 genomes]
rs73155161	1.00[EUR][1000 genomes]
rs73155163	1.00[EUR][1000 genomes]
rs73155169	1.00[EUR][1000 genomes]
rs73155170	1.00[EUR][1000 genomes]
rs73155580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164272	1.00[AMR][1000 genomes]
rs73164285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759359	chr5:99207674-99883371	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2757124	chr5:99424756-99883371	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv882461	chr5:99745767-99927338	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1025132	chr5:99745775-99896429	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1025890	chr5:99745775-99936186	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv882463	chr5:99784116-99898851	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv882464	chr5:99784116-99905367	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv882465	chr5:99784116-99927338	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99869600-99872600	Active TSS	GM12878-XiMat	blood
2	chr5:99870000-99874000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:99870200-99872400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:99870200-99873800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:99870400-99872400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:99870400-99872400	Active TSS	Fetal Intestine Small	intestine
7	chr5:99870400-99872400	Active TSS	A549	lung
8	chr5:99870400-99872600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:99870400-99872800	Active TSS	Brain Angular Gyrus	brain
10	chr5:99870400-99872800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:99870400-99872800	Active TSS	Colon Smooth Muscle	Colon
12	chr5:99870400-99872800	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:99870400-99872800	Active TSS	Psoas Muscle	Psoas
14	chr5:99870400-99873000	Active TSS	NHDF-Ad	bronchial
15	chr5:99870400-99873600	Active TSS	NHEK	skin
16	chr5:99870600-99872400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr5:99870600-99872400	Active TSS	Aorta	Aorta
18	chr5:99870600-99872400	Active TSS	Esophagus	oesophagus
19	chr5:99870600-99872400	Active TSS	Ovary	ovary
20	chr5:99870600-99872600	Active TSS	Right Atrium	heart
21	chr5:99870600-99872600	Active TSS	Right Ventricle	heart
22	chr5:99870600-99872600	Active TSS	HSMMtube	muscle
23	chr5:99870600-99872800	Active TSS	NHLF	lung
24	chr5:99871000-99872800	Active TSS	Fetal Kidney	kidney
25	chr5:99871200-99872600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:99871200-99873000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:99871400-99872400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:99871400-99872600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:99871400-99872600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:99871400-99872600	Active TSS	HepG2	liver
31	chr5:99871600-99872400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:99871600-99872400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:99871600-99872400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:99871600-99872600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr5:99871600-99872600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr5:99871600-99872600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr5:99871600-99872600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr5:99871600-99872600	Flanking Active TSS	Liver	Liver
39	chr5:99871600-99872800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr5:99871600-99873000	Flanking Active TSS	Dnd41	blood
41	chr5:99871600-99873200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:99871800-99872400	Enhancers	Small Intestine	intestine
43	chr5:99871800-99872600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr5:99871800-99872600	Active TSS	Colonic Mucosa	Colon
45	chr5:99871800-99872800	Flanking Active TSS	Osteobl	bone
46	chr5:99871800-99873000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:99871800-99873000	Flanking Active TSS	HUVEC	blood vessel
48	chr5:99871800-99874400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:99871800-99886400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:99871800-99886400	Weak transcription	Lung	lung

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