Variant report

Variant	rs13242765
Chromosome Location	chr7:128850167-128850168
allele	A/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	CTCF	chr7:128850090-128850850	HCT-116	colon:	n/a	chr7:128850504-128850520 chr7:128850509-128850518 chr7:128850506-128850516 chr7:128850503-128850521 chr7:128850498-128850519 chr7:128850505-128850518 chr7:128850508-128850521
2	CTCF	chr7:128849984-128851408	SK-N-SH	brain:	n/a	chr7:128850504-128850520 chr7:128850509-128850518 chr7:128851022-128851035 chr7:128850506-128850516 chr7:128850503-128850521 chr7:128850498-128850519 chr7:128850505-128850518 chr7:128850508-128850521
3	POLR2A	chr7:128850152-128850185	HepG2	liver:	n/a	n/a
4	RAD21	chr7:128850108-128850837	HCT-116	colon:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519
5	SMC3	chr7:128849969-128850989	SK-N-SH	brain:	n/a	chr7:128850406-128850416 chr7:128850512-128850519 chr7:128850505-128850515 chr7:128850505-128850519
6	CTCF	chr7:128850040-128850190	HCT-116	colon:	n/a	n/a
7	RAD21	chr7:128850109-128850803	MCF-7	breast:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519
8	RAD21	chr7:128850108-128850704	IMR90	lung:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519
9	RAD21	chr7:128850146-128850736	MCF-7	breast:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519
10	CTCF	chr7:128850154-128850821	MCF-7	breast:	n/a	chr7:128850504-128850520 chr7:128850509-128850518 chr7:128850506-128850516 chr7:128850503-128850521 chr7:128850498-128850519 chr7:128850505-128850518 chr7:128850508-128850521
11	CTCF	chr7:128849977-128850846	A549	lung:	n/a	chr7:128850504-128850520 chr7:128850509-128850518 chr7:128850506-128850516 chr7:128850503-128850521 chr7:128850498-128850519 chr7:128850505-128850518 chr7:128850508-128850521
12	FOXM1	chr7:128850118-128850675	GM12878	blood:	n/a	n/a
13	RAD21	chr7:128850042-128850903	HCT-116	colon:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519
14	RAD21	chr7:128850069-128850975	SK-N-SH	brain:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519
15	RAD21	chr7:128850115-128850855	A549	lung:	n/a	chr7:128850505-128850515 chr7:128850504-128850517 chr7:128850501-128850520 chr7:128850503-128850515 chr7:128850505-128850519

No.	Distal block	Cell Line	Cell type
1	chr7:128803706..128804884-chr7:128850028..128850982,7	MCF-7	breast:
2	chr7:128805692..128806597-chr7:128850014..128850591,2	K562	blood:
3	chr7:128519757..128520626-chr7:128849768..128850657,2	MCF-7	breast:
4	chr7:128845249..128846991-chr7:128849392..128851988,2	K562	blood:
5	chr7:128849557..128852141-chr7:128852235..128854201,2	K562	blood:

Variant related genes	Relation type
SMO	TF binding region
ENSG00000158457	Chromatin interaction
ENSG00000243230	Chromatin interaction
ENSG00000200629	Chromatin interaction
ENSG00000128602	Chromatin interaction
ENSG00000135253	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1061275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1061282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1061283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975133	0.80[EUR][1000 genomes]
rs12706870	0.84[EUR][1000 genomes]
rs12706880	1.00[MEX][hapmap]
rs13221770	1.00[CEU][hapmap]
rs13223446	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13225516	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13229264	0.84[EUR][1000 genomes]
rs13231139	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs13235047	0.84[EUR][1000 genomes]
rs13236334	0.84[EUR][1000 genomes]
rs13240434	0.84[EUR][1000 genomes]
rs13241894	0.84[EUR][1000 genomes]
rs13242728	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244260	0.83[EUR][1000 genomes]
rs13245719	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13246455	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs2016607	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703099	1.00[JPT][hapmap]
rs34100080	0.84[EUR][1000 genomes]
rs34535486	0.84[EUR][1000 genomes]
rs34584368	0.83[EUR][1000 genomes]
rs34643315	0.84[EUR][1000 genomes]
rs34853082	0.84[EUR][1000 genomes]
rs34894139	0.96[EUR][1000 genomes]
rs34920883	0.83[EUR][1000 genomes]
rs34989446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239026	0.84[EUR][1000 genomes]
rs35678076	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35695777	0.84[EUR][1000 genomes]
rs4731559	1.00[JPT][hapmap]
rs71577835	0.84[EUR][1000 genomes]
rs71577839	0.80[EUR][1000 genomes]
rs71577849	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128840800-128854200	Strong transcription	Fetal Stomach	stomach
5	chr7:128841400-128850200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr7:128841400-128853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:128841400-128855600	Weak transcription	HSMM	muscle
8	chr7:128842000-128853400	Strong transcription	Fetal Intestine Small	intestine
9	chr7:128842400-128853400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:128842600-128850400	Weak transcription	Gastric	stomach
12	chr7:128843000-128853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:128843000-128853400	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:128843200-128852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:128843200-128853400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
18	chr7:128843600-128850200	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:128843600-128858200	Weak transcription	Dnd41	blood
20	chr7:128843800-128851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:128843800-128852600	Weak transcription	Lung	lung
22	chr7:128843800-128853800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:128844400-128853200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:128844600-128852800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:128844600-128853200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:128844600-128853400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:128844600-128853400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
29	chr7:128844800-128850200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:128844800-128853000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:128844800-128853000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:128844800-128853200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:128844800-128853200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:128845000-128851600	Strong transcription	HepG2	liver
36	chr7:128845000-128852800	Strong transcription	Fetal Intestine Large	intestine
37	chr7:128845000-128853200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:128845200-128852400	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr7:128845400-128853000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr7:128845400-128853200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:128845600-128850200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:128845800-128851800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
44	chr7:128846000-128850200	Weak transcription	Pancreas	Pancrea
45	chr7:128846200-128853600	Weak transcription	HSMMtube	muscle
46	chr7:128846400-128850600	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:128846400-128851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:128846600-128850200	Weak transcription	Right Atrium	heart
49	chr7:128846600-128850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:128846600-128858400	Weak transcription	Left Ventricle	heart

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