Variant report

Variant	rs73113058
Chromosome Location	chr5:68667403-68667404
allele	A/G
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	POLR2A	chr5:68667298-68667450	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:

Variant related genes	Relation type
TAF9	TF binding region
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11396193	1.00[AMR][1000 genomes]
rs58179291	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113039	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113042	1.00[AMR][1000 genomes]
rs73113069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113073	0.87[AFR][1000 genomes]
rs73113084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113098	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68663400-68667800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr5:68663400-68667800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:68663600-68667600	Active TSS	K562	blood
4	chr5:68664200-68667800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:68664200-68668200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:68664200-68669800	Active TSS	GM12878-XiMat	blood
7	chr5:68664400-68667600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:68664400-68667600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:68665800-68667800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:68666200-68672800	Weak transcription	Small Intestine	intestine
11	chr5:68666200-68678000	Weak transcription	Spleen	Spleen
12	chr5:68666400-68668200	Flanking Active TSS	Dnd41	blood
13	chr5:68666600-68670400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:68666600-68670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:68666600-68670600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:68666600-68670600	Weak transcription	HSMMtube	muscle
17	chr5:68666600-68671200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:68666600-68671600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:68666600-68671800	Weak transcription	Ovary	ovary
20	chr5:68666600-68672600	Weak transcription	Left Ventricle	heart
21	chr5:68666600-68677800	Weak transcription	Colonic Mucosa	Colon
22	chr5:68666600-68677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:68666600-68681000	Weak transcription	Lung	lung
24	chr5:68666600-68689600	Weak transcription	Aorta	Aorta
25	chr5:68666600-68689800	Weak transcription	Gastric	stomach
26	chr5:68666600-68689800	Weak transcription	Right Ventricle	heart
27	chr5:68666600-68696200	Weak transcription	Pancreas	Pancrea
28	chr5:68666600-68705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:68666600-68710800	Weak transcription	Esophagus	oesophagus
30	chr5:68666800-68667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:68666800-68667600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:68666800-68667600	Weak transcription	Fetal Brain Female	brain
33	chr5:68666800-68667600	Enhancers	Fetal Intestine Small	intestine
34	chr5:68666800-68667800	Enhancers	Primary T cells from cord blood	blood
35	chr5:68666800-68667800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:68666800-68667800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:68666800-68667800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:68666800-68667800	Enhancers	Liver	Liver
39	chr5:68666800-68667800	Enhancers	Fetal Lung	lung
40	chr5:68666800-68667800	Enhancers	NH-A	brain
41	chr5:68666800-68668000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:68666800-68668000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr5:68666800-68668200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:68666800-68668200	Enhancers	Brain Anterior Caudate	brain
45	chr5:68666800-68668200	Enhancers	Colon Smooth Muscle	Colon
46	chr5:68666800-68668800	Enhancers	Fetal Brain Male	brain
47	chr5:68666800-68669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:68666800-68669600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:68666800-68669600	Weak transcription	Placenta	Placenta
50	chr5:68666800-68669800	Weak transcription	Primary monocytes fromperipheralblood	blood

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