Variant report

Variant	rs7186737
Chromosome Location	chr16:31188351-31188352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31188240-31188892	HL-60	blood:	n/a	n/a
2	POLR2A	chr16:31188319-31188855	HL-60	blood:	n/a	n/a
3	PBX3	chr16:31188292-31188796	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr16:31188315-31188799	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
2	chr16:31083873..31090665-chr16:31187351..31192875,15	MCF-7	breast:
3	chr16:31122222..31124943-chr16:31186228..31188471,2	MCF-7	breast:
4	chr16:31138688..31143325-chr16:31188339..31193663,6	K562	blood:
5	chr16:31165839..31168639-chr16:31188061..31189958,2	K562	blood:

No data

Variant related genes	Relation type
FUS	TF binding region
ENSG00000261385	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000167395	Chromatin interaction

Extended variants
information (count: 55 )
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[GIH][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17839571	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	1.00[EUR][1000 genomes]
rs55995755	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56068718	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58865641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60375074	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.83[AMR][1000 genomes]
rs61733962	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs72550895	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	0.83[AMR][1000 genomes]
rs73530263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530293	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532245	1.00[EUR][1000 genomes]
rs73532246	1.00[EUR][1000 genomes]
rs73532249	1.00[EUR][1000 genomes]
rs73532254	1.00[EUR][1000 genomes]
rs74015090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
2	chr16:31177200-31188400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:31182200-31190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:31182600-31190000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:31182600-31190000	Weak transcription	Spleen	Spleen
6	chr16:31182600-31190200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:31182600-31190600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:31183200-31188600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:31183200-31190400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:31184800-31190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr16:31186000-31190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:31187400-31188400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:31187600-31188400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:31187600-31188400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:31187600-31188400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr16:31187600-31188400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr16:31187600-31188400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr16:31187600-31188400	Enhancers	Dnd41	blood
19	chr16:31187600-31188600	Enhancers	Thymus	Thymus
20	chr16:31187600-31190200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:31187600-31190400	Enhancers	Fetal Thymus	thymus
22	chr16:31187600-31190400	Weak transcription	Pancreas	Pancrea
23	chr16:31187800-31188400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:31187800-31188400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr16:31187800-31188400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr16:31187800-31188400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:31187800-31188600	Enhancers	Primary B cells from cord blood	blood
28	chr16:31187800-31189000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr16:31187800-31190000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:31187800-31190200	Enhancers	Primary B cells from peripheral blood	blood
31	chr16:31188000-31189000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:31188000-31190200	Enhancers	Primary hematopoietic stem cells	blood
33	chr16:31188200-31188400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:31188200-31188600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:31188200-31188800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:31188200-31188800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr16:31188200-31188800	Enhancers	HSMMtube	muscle
38	chr16:31188200-31189000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr16:31188200-31189000	Enhancers	HSMM	muscle
40	chr16:31188200-31189400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:31188200-31189800	Enhancers	GM12878-XiMat	blood

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