Variant report

Variant	rs73391047
Chromosome Location	chr7:97939950-97939951
allele	C/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	CEBPB	chr7:97939750-97939975	IMR90	lung:	n/a	n/a
2	CEBPB	chr7:97939718-97940033	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:97939803-97939992	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97937242..97938860-chr7:97939013..97940800,2	MCF-7	breast:

Variant related genes	Relation type
BAIAP2L1	TF binding region
ENSG00000272782	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58936900	1.00[AMR][1000 genomes]
rs59219554	1.00[AMR][1000 genomes]
rs61120881	1.00[AMR][1000 genomes]
rs73391040	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1016826	chr7:97926133-97963717	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97914200-97958400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:97919000-97941200	Weak transcription	Psoas Muscle	Psoas
3	chr7:97919200-97957600	Weak transcription	Right Atrium	heart
4	chr7:97922200-97946800	Weak transcription	Small Intestine	intestine
5	chr7:97923000-97942600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:97923400-97952000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:97924600-97952200	Weak transcription	Fetal Kidney	kidney
8	chr7:97924600-97952800	Weak transcription	NH-A	brain
9	chr7:97924800-97942600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:97925200-97941600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:97926600-97942600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:97927000-97942600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:97927600-97940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:97927600-97948200	Weak transcription	Brain Germinal Matrix	brain
15	chr7:97928800-97947400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr7:97929400-97942000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:97929400-97945200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr7:97929400-97945800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr7:97929400-97947400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:97930800-97941600	Weak transcription	K562	blood
21	chr7:97931400-97942000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:97932000-97941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:97933000-97948400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:97933600-97952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:97933800-97947000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:97934800-97940800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:97934800-97941800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:97934800-97942000	Strong transcription	Liver	Liver
29	chr7:97934800-97942600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:97934800-97942800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:97934800-97947400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:97935200-97940400	Strong transcription	Colonic Mucosa	Colon
33	chr7:97935200-97943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:97935200-97946000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:97935400-97940000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:97935600-97941600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:97935600-97942600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:97935800-97941800	Strong transcription	Fetal Intestine Large	intestine
39	chr7:97935800-97945000	Strong transcription	Fetal Intestine Small	intestine
40	chr7:97935800-97951800	Weak transcription	Right Ventricle	heart
41	chr7:97935800-97968600	Weak transcription	Hela-S3	cervix
42	chr7:97936200-97943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:97937400-97941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:97937400-97941400	Weak transcription	HepG2	liver
45	chr7:97937400-97942600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:97937400-97944000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:97937400-97946800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:97937600-97942600	Weak transcription	Brain Anterior Caudate	brain
49	chr7:97937600-97952200	Weak transcription	NHLF	lung
50	chr7:97937800-97940200	Weak transcription	GM12878-XiMat	blood

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