Variant report

Variant	rs7669433
Chromosome Location	chr4:7940741-7940742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7799366..7802066-chr4:7938906..7941900,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12696835	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1344223	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2385912	0.83[EUR][1000 genomes]
rs2385914	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28446696	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34072960	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34740645	0.84[AMR][1000 genomes]
rs58349148	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60272249	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66479458	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6840305	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846757	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7669645	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695142	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695170	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698368	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9993085	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3370778	chr4:7940277-7942825	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7937800-7941800	Active TSS	A549	lung
2	chr4:7938200-7941800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:7938800-7941800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:7938800-7941800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:7938800-7941800	Active TSS	NHDF-Ad	bronchial
6	chr4:7939000-7941800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:7939200-7941800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:7939200-7941800	Active TSS	NH-A	brain
9	chr4:7939200-7941800	Active TSS	Osteobl	bone
10	chr4:7939200-7942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7939400-7941200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr4:7939400-7941800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:7939400-7941800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:7939400-7942000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:7939600-7941600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr4:7939600-7942000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:7939600-7942000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:7939600-7942000	Active TSS	Aorta	Aorta
19	chr4:7939800-7940800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr4:7939800-7941000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr4:7939800-7941200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:7939800-7941600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:7939800-7941800	Active TSS	Esophagus	oesophagus
24	chr4:7939800-7941800	Active TSS	Fetal Kidney	kidney
25	chr4:7939800-7941800	Active TSS	Fetal Stomach	stomach
26	chr4:7939800-7942000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:7939800-7942000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:7940000-7940800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr4:7940000-7940800	Active TSS	Colonic Mucosa	Colon
30	chr4:7940000-7941000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr4:7940000-7941000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr4:7940000-7941400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr4:7940000-7941600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:7940000-7941800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr4:7940000-7941800	Active TSS	Stomach Smooth Muscle	stomach
36	chr4:7940000-7941800	Active TSS	Hela-S3	cervix
37	chr4:7940000-7941800	Active TSS	HSMMtube	muscle
38	chr4:7940000-7942000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:7940000-7942000	Active TSS	Colon Smooth Muscle	Colon
40	chr4:7940000-7942000	Active TSS	Gastric	stomach
41	chr4:7940000-7942000	Active TSS	Ovary	ovary
42	chr4:7940000-7942000	Active TSS	Right Atrium	heart
43	chr4:7940200-7940800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr4:7940200-7940800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:7940200-7940800	Active TSS	Fetal Brain Female	brain
46	chr4:7940200-7941000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:7940200-7941000	Active TSS	Fetal Heart	heart
48	chr4:7940200-7941400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr4:7940200-7941600	Active TSS	Small Intestine	intestine
50	chr4:7940200-7941800	Active TSS	Brain Substantia Nigra	brain

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