Variant report

Variant	rs73676547
Chromosome Location	chr7:5270986-5270987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5265071..5268278-chr7:5269035..5271038,3	K562	blood:
2	chr7:5269235..5271608-chr7:5527076..5528752,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157954	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4530926	0.81[AFR][1000 genomes]
rs59864675	0.86[AFR][1000 genomes]
rs73676543	1.00[AFR][1000 genomes]
rs73676544	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
3	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer 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 miRNA target site	350 gene(s)	inside rSNPs	diseases
4	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
6	nsv887390	chr7:5224407-5411296	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
8	nsv830889	chr7:5248157-5427465	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv8034	chr7:5257953-5417973	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv887392	chr7:5263194-5359680	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
2	chr7:5231800-5273400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:5234000-5274800	Weak transcription	Stomach Mucosa	stomach
4	chr7:5237400-5272600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:5237400-5273400	Strong transcription	Dnd41	blood
6	chr7:5246400-5271400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:5248400-5273200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:5248800-5272000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr7:5248800-5272200	Strong transcription	Fetal Muscle Leg	muscle
10	chr7:5248800-5272400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:5249000-5271200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:5249000-5272600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:5249000-5272800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:5249000-5272800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:5249000-5273000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr7:5249000-5273200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr7:5249000-5273600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:5249000-5273600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:5249200-5271800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:5249200-5272200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:5249200-5272400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:5249200-5272600	Strong transcription	Osteobl	bone
23	chr7:5249200-5272800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:5249200-5273000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr7:5249200-5273400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:5249200-5273400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:5249200-5273400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:5249200-5273400	Strong transcription	Fetal Stomach	stomach
29	chr7:5249200-5273400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:5249200-5273600	Strong transcription	Fetal Intestine Small	intestine
31	chr7:5249400-5272400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:5249600-5272800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:5249600-5273400	Strong transcription	Right Ventricle	heart
34	chr7:5249800-5273600	Strong transcription	Fetal Brain Female	brain
35	chr7:5250200-5272200	Strong transcription	Ovary	ovary
36	chr7:5250200-5272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:5250800-5272800	Strong transcription	Liver	Liver
38	chr7:5253000-5271000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:5253400-5272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:5253600-5271000	Strong transcription	Brain Substantia Nigra	brain
41	chr7:5254000-5272600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:5254000-5272800	Strong transcription	Brain Germinal Matrix	brain
43	chr7:5254000-5273400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:5254000-5273400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:5254200-5280000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:5254600-5271600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:5254600-5273600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:5257000-5271200	Weak transcription	Fetal Heart	heart
49	chr7:5258000-5279600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:5258600-5271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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