Variant report

Variant	rs73472897
Chromosome Location	chr7:116609794-116609795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr7:116609604-116609828	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116601473..116604004-chr7:116608166..116610648,2	K562	blood:
2	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
3	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
4	chr7:116599684..116602391-chr7:116609129..116611076,2	MCF-7	breast:
5	chr7:116558517..116560603-chr7:116609318..116611727,2	K562	blood:
6	chr7:116608803..116612859-chr7:116615821..116619025,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228368	TF binding region
ENSG00000227199	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61496700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473262	0.88[AFR][1000 genomes]
rs73473268	0.88[AFR][1000 genomes]
rs7776604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7789152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9771438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv981571	chr7:116608949-116617079	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:116596400-116616600	Weak transcription	Osteobl	bone
4	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
5	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:116597000-116641600	Weak transcription	Ovary	ovary
9	chr7:116597200-116610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:116597800-116610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:116598400-116610400	Weak transcription	HepG2	liver
12	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:116598800-116609800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:116598800-116609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:116598800-116610400	Weak transcription	Left Ventricle	heart
16	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
17	chr7:116599200-116611800	Weak transcription	Right Ventricle	heart
18	chr7:116600600-116613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:116600600-116620200	Weak transcription	Lung	lung
20	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:116603600-116610600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:116604800-116610200	Weak transcription	Liver	Liver
23	chr7:116606600-116611000	Enhancers	Fetal Heart	heart
24	chr7:116607400-116610400	Weak transcription	NHDF-Ad	bronchial
25	chr7:116607600-116610200	Weak transcription	Psoas Muscle	Psoas
26	chr7:116607600-116610200	Weak transcription	Hela-S3	cervix
27	chr7:116607600-116610600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:116607600-116611800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:116607600-116614000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:116607600-116618000	Weak transcription	Spleen	Spleen
31	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:116607600-116632400	Weak transcription	Gastric	stomach
33	chr7:116607800-116612600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:116608000-116612800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:116608600-116610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:116608600-116610800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:116608600-116611000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:116608800-116610000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr7:116608800-116612800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:116608800-116617400	Weak transcription	HSMMtube	muscle
41	chr7:116609000-116612800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
43	chr7:116609200-116610600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:116609400-116609800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:116609400-116610000	Enhancers	Brain Substantia Nigra	brain
46	chr7:116609400-116610200	Enhancers	GM12878-XiMat	blood
47	chr7:116609400-116610400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:116609400-116610600	Enhancers	Stomach Mucosa	stomach
49	chr7:116609400-116611200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr7:116609400-116611600	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links