Variant report

Variant	rs73530269
Chromosome Location	chr16:31189973-31189974
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:31189939-31192131	GM12878	blood:	n/a	n/a
2	MTA3	chr16:31189905-31192315	GM12878	blood:	n/a	n/a
3	STAT3	chr16:31189924-31190557	GM12878	blood:	n/a	chr16:31190034-31190041

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31126778..31130864-chr16:31189092..31195209,17	K562	blood:
2	chr16:31172186..31178618-chr16:31189730..31194059,7	MCF-7	breast:
3	chr16:31189605..31193047-chr16:31225207..31229243,8	MCF-7	breast:
4	chr16:31082536..31087626-chr16:31189682..31193300,10	K562	blood:
5	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
6	chr16:31140279..31143875-chr16:31189793..31193230,5	MCF-7	breast:
7	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
8	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
9	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
10	chr16:30967331..30971455-chr16:31189672..31193521,14	K562	blood:
11	chr16:31139340..31148115-chr16:31189133..31193213,16	MCF-7	breast:
12	chr16:31103889..31108377-chr16:31189247..31192858,8	MCF-7	breast:
13	chr16:31103018..31108579-chr16:31189579..31192896,9	K562	blood:
14	chr16:31189717..31191990-chr6:151711401..151713605,2	K562	blood:
15	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
16	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
17	chr16:31006037..31010198-chr16:31189951..31194376,15	K562	blood:
18	chr16:31144485..31148429-chr16:31189146..31193121,7	MCF-7	breast:
19	chr16:31083873..31090665-chr16:31187351..31192875,15	MCF-7	breast:
20	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
21	chr16:31118360..31121203-chr16:31189734..31192940,3	K562	blood:
22	chr16:31127220..31133615-chr16:31189948..31195209,18	K562	blood:
23	chr16:31138688..31143325-chr16:31188339..31193663,6	K562	blood:
24	chr16:31188773..31190894-chr16:31477404..31479097,2	K562	blood:
25	chr16:31082869..31088846-chr16:31189629..31192848,9	MCF-7	breast:
26	chr16:30960089..30961847-chr16:31189954..31192995,3	MCF-7	breast:
27	chr16:31117975..31125175-chr16:31188698..31192934,10	MCF-7	breast:
28	chr16:31157660..31164019-chr16:31188659..31195219,17	MCF-7	breast:
29	chr16:30996187..30997817-chr16:31189964..31192323,2	MCF-7	breast:

No data

Variant related genes	Relation type
FUS	TF binding region
ENSG00000268863	Chromatin interaction
ENSG00000261385	Chromatin interaction
ENSG00000263343	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000181472	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000175938	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839571	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58865641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	1.00[AMR][1000 genomes]
rs73530263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	1.00[EUR][1000 genomes]
rs73532245	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532246	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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 miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
10	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
12	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
2	chr16:31182200-31190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr16:31182600-31190000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:31182600-31190000	Weak transcription	Spleen	Spleen
5	chr16:31182600-31190200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:31182600-31190600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:31183200-31190400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:31184800-31190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:31186000-31190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:31187600-31190200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:31187600-31190400	Enhancers	Fetal Thymus	thymus
12	chr16:31187600-31190400	Weak transcription	Pancreas	Pancrea
13	chr16:31187800-31190000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:31187800-31190200	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:31188000-31190200	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:31188600-31190000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:31188600-31190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:31188600-31190200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:31188600-31190200	Weak transcription	NHEK	skin
20	chr16:31188600-31190200	Weak transcription	Osteobl	bone
21	chr16:31188800-31190000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:31188800-31190000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:31188800-31190000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr16:31188800-31190000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:31188800-31190000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr16:31188800-31190200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:31188800-31190200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:31188800-31190200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:31188800-31190200	Weak transcription	HMEC	breast
30	chr16:31188800-31190400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:31188800-31190400	Weak transcription	NH-A	brain
32	chr16:31188800-31190600	Weak transcription	HSMMtube	muscle
33	chr16:31189000-31190000	Enhancers	Primary B cells from cord blood	blood
34	chr16:31189000-31190000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:31189000-31190000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr16:31189000-31190000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr16:31189000-31190000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:31189000-31190000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr16:31189000-31190000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr16:31189000-31190000	Enhancers	Dnd41	blood
41	chr16:31189000-31190200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:31189000-31190200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr16:31189000-31190200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:31189000-31190400	Weak transcription	HSMM	muscle
45	chr16:31189000-31190600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:31189200-31190000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr16:31189200-31190000	Enhancers	Thymus	Thymus
48	chr16:31189200-31190000	Weak transcription	Hela-S3	cervix
49	chr16:31189200-31190800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr16:31189400-31190000	Enhancers	Primary T cells fromperipheralblood	blood

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