Variant report

Variant	rs7776604
Chromosome Location	chr7:116613167-116613168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:116612688-116613173	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:116612684-116613186	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
2	chr7:116595834..116597800-chr7:116612377..116614043,2	K562	blood:
3	7:115847372-115857098..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
4	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
5	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
6	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
7	7:116610596-116619447..7:116754962-116765597	GM12878	blood:
8	7:116610596-116619447..7:117114628-117119361	H1-hESC	embryonic stem cell:	embryo
9	7:115861595-115870968..7:116610596-116619447	GM12878	blood:

No data

Variant related genes	Relation type
TPM3P1	TF binding region
ENSG00000198898	Chromatin interaction
ENSG00000077063	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000001626	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:10)

rs_ID	r²[population]
rs61496700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966560	1.00[MEX][hapmap]
rs73472897	1.00[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]
rs7782644	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7788974	1.00[MEX][hapmap]
rs7789152	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];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:2 , 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	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:48 , 50 per page) page: 1

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	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:116597000-116641600	Weak transcription	Ovary	ovary
8	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
10	chr7:116600600-116613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:116600600-116620200	Weak transcription	Lung	lung
12	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:116607600-116614000	Weak transcription	Brain Anterior Caudate	brain
14	chr7:116607600-116618000	Weak transcription	Spleen	Spleen
15	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:116607600-116632400	Weak transcription	Gastric	stomach
17	chr7:116608800-116617400	Weak transcription	HSMMtube	muscle
18	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
19	chr7:116609800-116618000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:116610400-116613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:116610600-116613400	Weak transcription	Pancreas	Pancrea
22	chr7:116610600-116618200	Weak transcription	Stomach Mucosa	stomach
23	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
24	chr7:116610800-116616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:116610800-116617400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:116610800-116617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:116610800-116617400	Weak transcription	HUVEC	blood vessel
28	chr7:116610800-116618000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:116610800-116626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:116611000-116619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:116611000-116621400	Weak transcription	Fetal Heart	heart
32	chr7:116611200-116616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:116611200-116617200	Weak transcription	NHEK	skin
34	chr7:116611200-116618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:116611600-116615400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:116611600-116616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:116612000-116613600	Strong transcription	Fetal Intestine Small	intestine
38	chr7:116612000-116632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:116612200-116614800	Weak transcription	GM12878-XiMat	blood
40	chr7:116612200-116623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:116612200-116628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:116612800-116613600	Enhancers	Right Atrium	heart
43	chr7:116612800-116615800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:116612800-116623600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:116613000-116613400	Enhancers	Right Ventricle	heart
46	chr7:116613000-116616000	Weak transcription	Fetal Stomach	stomach
47	chr7:116613000-116617400	Weak transcription	K562	blood
48	chr7:116613000-116623400	Weak transcription	Left Ventricle	heart

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