Variant report

Variant	rs73298985
Chromosome Location	chr10:50189255-50189256
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	RAD21	chr10:50189255-50189783	H1-hESC	embryonic stem cell:	n/a	chr10:50189632-50189644 chr10:50189555-50189567 chr10:50189550-50189569
2	RAD21	chr10:50187999-50190296	SK-N-SH	brain:	n/a	chr10:50190269-50190278 chr10:50189632-50189644 chr10:50189555-50189567 chr10:50189550-50189569
3	CUX1	chr10:50189201-50189886	K562	blood:	n/a	n/a
4	POLR2A	chr10:50188788-50189423	GM12878	blood:	n/a	n/a
5	RAD21	chr10:50189221-50189773	H1-hESC	embryonic stem cell:	n/a	chr10:50189632-50189644 chr10:50189555-50189567 chr10:50189550-50189569
6	CTCF	chr10:50189159-50189777	IMR90	lung:	n/a	chr10:50189549-50189567 chr10:50189552-50189565 chr10:50189551-50189572 chr10:50189550-50189566
7	CTCF	chr10:50189234-50189764	K562	blood:	n/a	chr10:50189549-50189567 chr10:50189552-50189565 chr10:50189551-50189572 chr10:50189550-50189566
8	MXI1	chr10:50189158-50190357	SK-N-SH	brain:	n/a	chr10:50189608-50189617
9	PAX5	chr10:50189254-50189765	GM12878	blood:	n/a	n/a
10	RAD21	chr10:50189230-50189965	HCT-116	colon:	n/a	chr10:50189632-50189644 chr10:50189555-50189567 chr10:50189550-50189569
11	SMC3	chr10:50189075-50190144	SK-N-SH	brain:	n/a	chr10:50189551-50189565
12	CTCF	chr10:50189022-50190020	SK-N-SH	brain:	n/a	chr10:50189549-50189567 chr10:50189552-50189565 chr10:50189551-50189572 chr10:50189550-50189566
13	CTCF	chr10:50189191-50190018	A549	lung:	n/a	chr10:50189549-50189567 chr10:50189552-50189565 chr10:50189551-50189572 chr10:50189550-50189566

No.	Distal block	Cell Line	Cell type
1	chr10:50189016..50189840-chr10:50369727..50370380,2	MCF-7	breast:
2	chr10:50189004..50189946-chr10:50369694..50370301,2	MCF-7	breast:
3	chr10:50188936..50190031-chr10:50371953..50373337,3	K562	blood:
4	chr10:50093543..50094135-chr10:50189197..50189868,2	MCF-7	breast:
5	chr10:50189042..50190060-chr10:50372301..50373296,9	MCF-7	breast:
6	chr10:50189169..50190058-chr10:50374196..50375038,2	K562	blood:
7	chr10:49864070..49864811-chr10:50189081..50190023,3	K562	blood:
8	chr10:50183047..50186583-chr10:50187607..50192448,6	K562	blood:
9	chr10:50188644..50191222-chr10:50191430..50195593,3	K562	blood:
10	chr10:50189056..50189642-chr10:50626103..50626925,2	K562	blood:

Variant related genes	Relation type
ENSG00000226576	TF binding region
ENSG00000128815	Chromatin interaction
ENSG00000226576	Chromatin interaction
ENSG00000264800	Chromatin interaction
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56841226	1.00[AFR][1000 genomes]
rs57753010	1.00[AMR][1000 genomes]
rs73298920	1.00[AFR][1000 genomes]
rs73298957	1.00[AFR][1000 genomes]
rs73298996	1.00[AFR][1000 genomes]
rs73304725	1.00[AFR][1000 genomes]
rs73304783	1.00[AFR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50144600-50196200	Strong transcription	Primary B cells from cord blood	blood
2	chr10:50145000-50193200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:50145400-50193200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:50145800-50193400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:50148000-50193600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:50153600-50193600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:50174600-50189400	Weak transcription	Ovary	ovary
8	chr10:50175200-50189400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:50177400-50189400	Weak transcription	Esophagus	oesophagus
10	chr10:50179200-50192200	Weak transcription	Primary T cells from cord blood	blood
11	chr10:50181800-50191200	Weak transcription	Lung	lung
12	chr10:50185400-50192400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr10:50187400-50189800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:50187400-50190000	Weak transcription	Spleen	Spleen
15	chr10:50187800-50192200	Weak transcription	GM12878-XiMat	blood
16	chr10:50188000-50189800	Enhancers	Fetal Stomach	stomach
17	chr10:50188200-50189800	Enhancers	Fetal Lung	lung
18	chr10:50188600-50190400	Enhancers	Fetal Muscle Leg	muscle
19	chr10:50189000-50189400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:50189200-50190000	Enhancers	K562	blood
21	chr10:50189200-50193800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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