Variant report

Variant	rs7084511
Chromosome Location	chr10:45430956-45430957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45430603-45431664	HepG2	liver:	n/a	n/a
2	MAX	chr10:45430940-45431552	SK-N-SH	brain:	n/a	n/a
3	MAX	chr10:45430785-45431654	HepG2	liver:	n/a	n/a
4	EP300	chr10:45430917-45431614	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr10:45430919-45431472	HepG2	liver:	n/a	n/a
6	TCF12	chr10:45430833-45431666	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr10:45430877-45431577	HepG2	liver:	n/a	n/a
8	EP300	chr10:45430930-45431439	HepG2	liver:	n/a	n/a
9	RAD21	chr10:45430947-45431314	HepG2	liver:	n/a	n/a
10	MAZ	chr10:45430587-45431545	IMR90	lung:	n/a	n/a
11	MXI1	chr10:45430946-45431453	HepG2	liver:	n/a	n/a
12	TCF12	chr10:45430862-45431638	SK-N-SH	brain:	n/a	n/a
13	MAX	chr10:45430929-45431579	SK-N-SH	brain:	n/a	n/a
14	MYBL2	chr10:45430938-45431541	HepG2	liver:	n/a	n/a
15	MAX	chr10:45430937-45431398	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr10:45430751-45431712	IMR90	lung:	n/a	n/a
17	RAD21	chr10:45430866-45431379	HepG2	liver:	n/a	n/a
18	MYBL2	chr10:45430939-45431492	HepG2	liver:	n/a	n/a
19	RAD21	chr10:45430893-45431352	HepG2	liver:	n/a	n/a
20	MAX	chr10:45430916-45431476	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:45430664..45432254-chr10:45480745..45483576,2	MCF-7	breast:
2	chr10:45428885..45431662-chr10:45490818..45493446,2	K562	blood:
3	chr10:45426234..45427990-chr10:45429968..45432449,2	K562	blood:
4	chr10:45429768..45432549-chr10:45433306..45435637,3	MCF-7	breast:
5	chr10:45428329..45431725-chr10:45453082..45455678,3	MCF-7	breast:
6	chr10:45430656..45433137-chr10:45453264..45455350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223462	TF binding region
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1109423	0.84[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12414447	0.84[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17515265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17515286	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34453249	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55817343	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55951178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7074238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7076570	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7083830	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7908664	0.93[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv818757	chr10:45420076-45431321	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
2	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45427800-45432200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr10:45427800-45432200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
7	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
8	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
9	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
10	chr10:45428000-45431000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr10:45428000-45432000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
13	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
14	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
16	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
17	chr10:45428000-45433400	Enhancers	Placenta	Placenta
18	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:45428200-45432200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:45428400-45431600	Enhancers	Left Ventricle	heart
21	chr10:45428400-45436800	Enhancers	HepG2	liver
22	chr10:45428600-45431000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr10:45428600-45431200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr10:45428600-45432000	Enhancers	Stomach Smooth Muscle	stomach
25	chr10:45428800-45431000	Weak transcription	Liver	Liver
26	chr10:45428800-45431200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:45428800-45433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:45428800-45435400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:45429000-45431000	Weak transcription	Esophagus	oesophagus
30	chr10:45429000-45432600	Enhancers	Right Atrium	heart
31	chr10:45429200-45432400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr10:45429200-45432600	Enhancers	Fetal Muscle Trunk	muscle
33	chr10:45429400-45431000	Weak transcription	Fetal Intestine Small	intestine
34	chr10:45429400-45431000	Weak transcription	Thymus	Thymus
35	chr10:45429800-45432000	Enhancers	NHDF-Ad	bronchial
36	chr10:45429800-45432200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:45429800-45433200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:45430000-45432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:45430000-45433400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:45430200-45431200	Enhancers	Aorta	Aorta
41	chr10:45430200-45432200	Enhancers	Spleen	Spleen
42	chr10:45430200-45432400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr10:45430200-45432600	Enhancers	HSMM	muscle
44	chr10:45430400-45431200	Enhancers	Gastric	stomach
45	chr10:45430400-45431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:45430400-45432000	Enhancers	Lung	lung
47	chr10:45430400-45432600	Enhancers	Primary hematopoietic stem cells	blood
48	chr10:45430600-45431000	Enhancers	Colon Smooth Muscle	Colon
49	chr10:45430600-45431200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr10:45430600-45431400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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