Variant report

Variant	rs55834411
Chromosome Location	chr7:86778180-86778181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:86777591-86778231	MCF-7	breast:	n/a	chr7:86777859-86777878
2	CEBPB	chr7:86777741-86778265	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:86777724-86778277	MCF-7	breast:	n/a	n/a
4	CTCF	chr7:86777528-86778229	HCT-116	colon:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
5	CTCF	chr7:86777305-86778325	SK-N-SH	brain:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
6	GATA3	chr7:86777643-86778488	MCF-7	breast:	n/a	chr7:86778075-86778082
7	RCOR1	chr7:86777783-86778286	K562	blood:	n/a	n/a
8	RAD21	chr7:86777545-86778186	HCT-116	colon:	n/a	chr7:86777859-86777878
9	GATA3	chr7:86777762-86778430	MCF-7	breast:	n/a	chr7:86778075-86778082
10	CTCF	chr7:86777576-86778191	MCF-7	breast:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
11	SMC3	chr7:86777222-86778513	SK-N-SH	brain:	n/a	chr7:86777863-86777877
12	CTCF	chr7:86778140-86778290	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr7:86777476-86778456	A549	lung:	n/a	chr7:86777861-86777879 chr7:86777856-86777877
14	RAD21	chr7:86776920-86778395	SK-N-SH	brain:	n/a	chr7:86777859-86777878

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86543870..86544512-chr7:86777399..86778371,5	K562	blood:
2	chr7:86642806..86643592-chr7:86777432..86778252,3	MCF-7	breast:
3	chr7:86743993..86746929-chr7:86777540..86779629,2	K562	blood:
4	chr7:86689129..86690727-chr7:86777649..86779867,2	K562	blood:
5	chr7:86555804..86556575-chr7:86777404..86778295,4	K562	blood:
6	chr7:86566997..86568665-chr7:86776985..86778499,2	MCF-7	breast:
7	chr7:86568296..86569388-chr7:86777465..86778298,4	MCF-7	breast:
8	chr7:86535376..86539123-chr7:86777976..86780769,3	K562	blood:
9	chr7:86543892..86544672-chr7:86777496..86778313,3	MCF-7	breast:
10	chr7:86688365..86690088-chr7:86776732..86778819,2	MCF-7	breast:
11	chr7:86688749..86689587-chr7:86777457..86778379,5	MCF-7	breast:
12	chr7:86777355..86778194-chr7:86865903..86866439,3	MCF-7	breast:
13	chr7:86565014..86570246-chr7:86776196..86779277,4	K562	blood:
14	chr7:86747236..86750092-chr7:86777747..86780252,2	K562	blood:
15	chr7:86721191..86723956-chr7:86776438..86778233,2	MCF-7	breast:
16	chr7:86777886..86779595-chr7:86780686..86782702,2	MCF-7	breast:
17	chr7:86568242..86569711-chr7:86777392..86778327,7	MCF-7	breast:
18	chr7:86777151..86779523-chr7:86848801..86851010,2	K562	blood:
19	chr7:86535376..86537638-chr7:86777976..86779594,2	K562	blood:
20	chr7:86555575..86556607-chr7:86777323..86778397,7	MCF-7	breast:
21	chr7:86554879..86556434-chr7:86778032..86780011,2	K562	blood:
22	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:

No data

Variant related genes	Relation type
DMTF1	TF binding region
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000164659	Chromatin interaction
ENSG00000135185	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11762311	0.86[AMR][1000 genomes]
rs11769063	0.86[AMR][1000 genomes]
rs11771569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11773103	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11971131	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11978231	0.83[AMR][1000 genomes]
rs17161329	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56378450	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202978	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202980	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202982	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202993	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204819	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73204890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73204895	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73206916	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206937	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73206984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73208517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73208537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73208546	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73210234	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73210242	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73210250	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73210264	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86771000-86780800	Weak transcription	Fetal Intestine Large	intestine
2	chr7:86771400-86780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:86774600-86780400	Weak transcription	GM12878-XiMat	blood
4	chr7:86774600-86780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:86774600-86780800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:86776400-86780600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:86776800-86780600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:86776800-86780800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:86776800-86780800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:86777000-86780800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:86777200-86780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:86777200-86780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:86777400-86778200	Enhancers	Hela-S3	cervix
14	chr7:86777600-86778200	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:86777800-86778200	Enhancers	HUVEC	blood vessel
16	chr7:86777800-86780800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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