Variant report

Variant	rs7748580
Chromosome Location	chr6:36972832-36972833
allele	C/T
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	NFIC	chr6:36972822-36973809	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:36972801-36973137	GM12878	blood:	n/a	n/a
3	NFIC	chr6:36972800-36973353	GM12878	blood:	n/a	n/a
4	MTA3	chr6:36972815-36974536	GM12878	blood:	n/a	n/a
5	RUNX3	chr6:36972234-36974350	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36967024..36973771-chr6:36979699..36986633,7	K562	blood:
2	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:

Variant related genes	Relation type
FGD2	TF binding region
ENSG00000146192	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1724104	0.92[EUR][1000 genomes]
rs1815170	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3822973	0.92[EUR][1000 genomes]
rs73730511	0.87[AFR][1000 genomes]
rs7742213	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9366922	0.92[EUR][1000 genomes]
rs9368978	0.92[EUR][1000 genomes]
rs9380632	0.92[EUR][1000 genomes]
rs9462245	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36966400-36973400	Weak transcription	Esophagus	oesophagus
2	chr6:36966600-36973800	Weak transcription	Right Atrium	heart
3	chr6:36966800-36973400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:36966800-36975000	Weak transcription	Psoas Muscle	Psoas
5	chr6:36967000-36973600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:36967400-36973400	Weak transcription	Left Ventricle	heart
7	chr6:36967800-36973800	Weak transcription	Pancreas	Pancrea
8	chr6:36969800-36973000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:36970200-36973400	Weak transcription	Spleen	Spleen
10	chr6:36971600-36973600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:36971800-36973000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:36971800-36973400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr6:36972000-36973000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:36972200-36976000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr6:36972400-36973000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:36972400-36973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:36972600-36973400	Enhancers	GM12878-XiMat	blood
18	chr6:36972800-36973200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:36972800-36973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:36972800-36973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:36972800-36973400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:36972800-36976000	Enhancers	Primary hematopoietic stem cells	blood

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