Variant report

Variant	rs73415779
Chromosome Location	chr6:34724095-34724096
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:34724091-34725649	K562	blood:	n/a	n/a
2	MXI1	chr6:34724091-34726079	SK-N-SH	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34663247..34666234-chr6:34723415..34727175,3	K562	blood:
2	chr6:34723754..34729214-chr6:34758122..34762652,9	MCF-7	breast:
3	chr6:34711953..34714210-chr6:34722946..34726652,3	K562	blood:
4	chr6:34723520..34726444-chr6:34854512..34857469,3	MCF-7	breast:
5	chr6:34663247..34666328-chr6:34722695..34726583,8	K562	blood:
6	chr6:34663907..34669185-chr6:34723600..34728462,6	MCF-7	breast:
7	chr6:34392363..34394175-chr6:34723427..34725918,3	MCF-7	breast:
8	chr6:34712695..34714463-chr6:34723596..34725137,2	MCF-7	breast:
9	chr6:34657778..34659720-chr6:34722705..34725050,2	MCF-7	breast:
10	chr6:34658536..34661755-chr6:34723904..34726636,3	MCF-7	breast:
11	chr6:34664585..34666258-chr6:34723626..34725241,2	MCF-7	breast:
12	chr6:34723587..34727193-chr6:34757798..34760917,6	K562	blood:
13	chr6:34723785..34726777-chr6:34759451..34763099,4	MCF-7	breast:

No data

Variant related genes	Relation type
SNRPC	TF binding region
ENSG00000065060	Chromatin interaction
ENSG00000272288	Chromatin interaction
ENSG00000196821	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000217130	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1125342	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16894102	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16894945	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16894995	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1964810	0.87[EUR][1000 genomes]
rs2236392	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2764199	0.87[ASN][1000 genomes]
rs2764200	0.86[ASN][1000 genomes]
rs2764202	0.85[ASN][1000 genomes]
rs2814954	0.86[ASN][1000 genomes]
rs2814965	0.94[ASN][1000 genomes]
rs3734260	0.84[ASN][1000 genomes]
rs3734263	0.84[ASN][1000 genomes]
rs3736896	0.93[ASN][1000 genomes]
rs3777751	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798349	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798351	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800447	0.87[EUR][1000 genomes]
rs3800455	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800456	0.84[ASN][1000 genomes]
rs41438444	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4615374	0.83[EUR][1000 genomes]
rs56825685	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56842618	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56987113	0.96[EUR][1000 genomes]
rs57338415	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57637041	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57645599	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57916801	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57994417	0.83[EUR][1000 genomes]
rs58643640	0.96[EUR][1000 genomes]
rs58654146	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58817410	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58833137	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59014029	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59851773	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59884600	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59952325	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60410089	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60439875	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60754257	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6906500	0.84[ASN][1000 genomes]
rs6939345	0.93[ASN][1000 genomes]
rs73413893	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73415706	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73415742	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73415758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73415760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73415781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73417752	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73417786	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73419615	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73419643	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419650	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73419656	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73419658	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73419660	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73419689	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7739335	0.82[ASN][1000 genomes]
rs7752237	0.83[ASN][1000 genomes]
rs7772600	0.86[ASN][1000 genomes]
rs9296126	0.84[ASN][1000 genomes]
rs9368829	0.83[ASN][1000 genomes]
rs9380451	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34716200-34724200	Weak transcription	Stomach Mucosa	stomach
2	chr6:34720400-34724200	Weak transcription	Thymus	Thymus
3	chr6:34721000-34724200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:34721000-34724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:34721000-34724200	Weak transcription	GM12878-XiMat	blood
6	chr6:34721800-34724200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:34723000-34724200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:34723200-34724200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:34723600-34724200	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:34723600-34724200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:34723600-34724200	Enhancers	Dnd41	blood
12	chr6:34723600-34725400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:34724000-34724200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:34724000-34724200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:34724000-34724200	Enhancers	Aorta	Aorta
16	chr6:34724000-34724200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:34724000-34725400	Active TSS	Placenta	Placenta
18	chr6:34724000-34725800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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