Variant report

Variant	rs41430449
Chromosome Location	chr7:50798525-50798526
allele	C/G
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	MYC	chr7:50798474-50798637	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr7:50798506-50798842	HepG2	liver:	n/a	n/a
3	ELF1	chr7:50798515-50798725	K562	blood:	n/a	n/a
4	EBF1	chr7:50798455-50798769	GM12878	blood:	n/a	chr7:50798623-50798634 chr7:50798622-50798635 chr7:50798586-50798599 chr7:50798587-50798597 chr7:50798588-50798597 chr7:50798587-50798598

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50795485..50798618-chr7:50800001..50802652,3	MCF-7	breast:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10486758	0.92[GIH][hapmap];1.00[AFR][1000 genomes]
rs12530497	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17152083	0.88[GIH][hapmap]
rs17449259	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17449280	1.00[AFR][1000 genomes]
rs17450294	1.00[AFR][1000 genomes]
rs17547506	1.00[AFR][1000 genomes]
rs17547664	1.00[AFR][1000 genomes]
rs17547986	0.92[GIH][hapmap]
rs17548938	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2286155	0.92[GIH][hapmap];0.92[MEX][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4947462	0.84[AMR][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4947816	0.95[AMR][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs57219566	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73113855	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73116823	1.00[AFR][1000 genomes]
rs73116829	1.00[AFR][1000 genomes]
rs73116888	1.00[AFR][1000 genomes]
rs73116890	1.00[AFR][1000 genomes]
rs73118808	1.00[AFR][1000 genomes]
rs73118814	1.00[AFR][1000 genomes]
rs73118816	1.00[AFR][1000 genomes]
rs73118830	1.00[AFR][1000 genomes]
rs73118836	1.00[AFR][1000 genomes]
rs73122773	1.00[AFR][1000 genomes]
rs73122790	1.00[AFR][1000 genomes]
rs73122793	1.00[AFR][1000 genomes]
rs73122798	1.00[AFR][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs757771	0.91[AMR][1000 genomes]
rs757998	0.95[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active 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 miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:50784000-50799400	Weak transcription	Hela-S3	cervix
6	chr7:50787000-50798600	Weak transcription	Brain Germinal Matrix	brain
7	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:50789400-50798600	Weak transcription	A549	lung
10	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
12	chr7:50789800-50798600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:50790000-50801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:50790200-50801200	Weak transcription	Fetal Intestine Large	intestine
15	chr7:50790600-50799200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:50793000-50799400	Enhancers	Liver	Liver
17	chr7:50793000-50799600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:50793000-50801400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:50793000-50801800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:50793800-50798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:50794000-50801200	Weak transcription	Gastric	stomach
24	chr7:50794600-50799200	Enhancers	Adipose Nuclei	Adipose
25	chr7:50794800-50799400	Enhancers	NH-A	brain
26	chr7:50794800-50802200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:50794800-50802200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:50794800-50803000	Weak transcription	Primary T cells from cord blood	blood
29	chr7:50795000-50799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:50795000-50799600	Enhancers	Osteobl	bone
31	chr7:50795200-50798600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:50795200-50807400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:50795400-50799000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:50795800-50798800	Enhancers	Left Ventricle	heart
35	chr7:50796200-50798600	Enhancers	Ovary	ovary
36	chr7:50796200-50799000	Enhancers	Right Atrium	heart
37	chr7:50796200-50802200	Enhancers	Psoas Muscle	Psoas
38	chr7:50796600-50799000	Enhancers	Lung	lung
39	chr7:50797000-50798800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:50797000-50799000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:50797000-50799400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:50797000-50799800	Enhancers	NHDF-Ad	bronchial
43	chr7:50797200-50798800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:50797200-50798800	Enhancers	HSMM	muscle
45	chr7:50797200-50799000	Enhancers	Fetal Muscle Trunk	muscle
46	chr7:50797200-50799000	Enhancers	Fetal Muscle Leg	muscle
47	chr7:50797200-50799000	Enhancers	Placenta	Placenta
48	chr7:50797200-50799600	Enhancers	NHLF	lung
49	chr7:50797400-50798800	Enhancers	Brain Hippocampus Middle	brain
50	chr7:50797400-50798800	Enhancers	Colon Smooth Muscle	Colon

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