Variant report

Variant	rs72787278
Chromosome Location	chr10:49892166-49892167
allele	A/C
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	POLR2A	chr10:49891933-49892379	H1-neurons	neurons:	n/a	n/a
2	MAX	chr10:49891958-49893746	GM12878	blood:	n/a	chr10:49893231-49893240 chr10:49893240-49893255 chr10:49893152-49893162
3	ZNF143	chr10:49892035-49892255	GM12878	blood:	n/a	n/a
4	BHLHE40	chr10:49891871-49892218	GM12878	blood:	n/a	n/a
5	EP300	chr10:49891997-49893678	GM12878	blood:	n/a	chr10:49893215-49893224 chr10:49893216-49893229
6	STAT5A	chr10:49891950-49893768	GM12878	blood:	n/a	chr10:49892479-49892491 chr10:49893392-49893404 chr10:49893194-49893206
7	POLR2A	chr10:49892042-49894152	GM18526	blood:	n/a	n/a
8	POLR2A	chr10:49891961-49892350	H1-neurons	neurons:	n/a	n/a
9	RFX5	chr10:49891991-49892191	GM12878	blood:	n/a	n/a
10	MTA3	chr10:49891734-49894233	GM12878	blood:	n/a	n/a
11	RUNX3	chr10:49891801-49893882	GM12878	blood:	n/a	n/a
12	ATF2	chr10:49891854-49892461	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:49891848-49894374	GM12892	blood:	n/a	n/a
14	TCF12	chr10:49892000-49892276	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:49892024-49893746	GM12891	blood:	n/a	n/a
16	FOXM1	chr10:49891754-49893271	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:49892036-49892269	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr10:49891807-49892176	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:49891535-49894292	GM19099	blood:	n/a	n/a
20	PAX5	chr10:49891943-49892460	GM12892	blood:	n/a	chr10:49892130-49892149
21	MXI1	chr10:49892077-49892379	GM12878	blood:	n/a	n/a
22	STAT3	chr10:49892074-49892870	GM12878	blood:	n/a	chr10:49892479-49892491
23	SIN3A	chr10:49892135-49892438	GM12878	blood:	n/a	n/a
24	POLR2A	chr10:49892018-49894223	GM19193	blood:	n/a	n/a
25	POLR2A	chr10:49891839-49894503	GM12891	blood:	n/a	n/a
26	PAX5	chr10:49891994-49892222	GM12892	blood:	n/a	chr10:49892130-49892149
27	NFIC	chr10:49891660-49893838	GM12878	blood:	n/a	n/a
28	MTA3	chr10:49891848-49893504	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:49891938-49893886	GM12892	blood:	n/a	n/a
30	MAZ	chr10:49892100-49893730	GM12878	blood:	n/a	chr10:49893231-49893240 chr10:49893240-49893255
31	POLR2A	chr10:49891817-49894309	GM12878	blood:	n/a	n/a
32	CHD1	chr10:49892062-49893718	GM12878	blood:	n/a	n/a
33	RELA	chr10:49891969-49893716	GM19099	blood:	n/a	chr10:49893406-49893415 chr10:49893406-49893415
34	POLR2A	chr10:49891948-49892427	GM12892	blood:	n/a	n/a
35	SP1	chr10:49891911-49892374	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:49891997-49894140	GM15510	blood:	n/a	n/a
37	IKZF1	chr10:49891813-49893740	GM12878	blood:	n/a	n/a
38	RELA	chr10:49891991-49893805	GM10847	blood:	n/a	chr10:49893406-49893415 chr10:49893406-49893415
39	SPI1	chr10:49892123-49893825	GM12878	blood:	n/a	chr10:49893212-49893225 chr10:49892869-49892882
40	RELA	chr10:49891962-49893564	GM19193	blood:	n/a	chr10:49893406-49893415 chr10:49893406-49893415
41	SP1	chr10:49891948-49892339	GM12878	blood:	n/a	n/a
42	PAX5	chr10:49891893-49892356	GM12878	blood:	n/a	chr10:49892130-49892149
43	PAX5	chr10:49892017-49892318	GM12891	blood:	n/a	chr10:49892130-49892149
44	PAX5	chr10:49891921-49892259	GM12891	blood:	n/a	chr10:49892130-49892149
45	POLR2A	chr10:49891850-49894243	Raji	blood:	n/a	n/a
46	ZNF384	chr10:49891611-49892371	GM12878	blood:	n/a	n/a
47	PAX5	chr10:49891844-49892295	GM12878	blood:	n/a	chr10:49891856-49891865 chr10:49892130-49892149
48	POLR2A	chr10:49891894-49894199	GM18505	blood:	n/a	n/a
49	POLR2A	chr10:49891930-49892412	GM12892	blood:	n/a	n/a
50	RELA	chr10:49891991-49893759	GM18951	blood:	n/a	chr10:49893406-49893415 chr10:49893406-49893415

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49887127..49889680-chr10:49889954..49892884,2	MCF-7	breast:

Variant related genes	Relation type
WDFY4	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56267743	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61838414	0.90[ASN][1000 genomes]
rs72787268	0.87[ASN][1000 genomes]
rs72787272	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787275	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72787277	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49889400-49892200	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:49890200-49892600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr10:49890600-49892400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:49890600-49893000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:49890800-49892600	Weak transcription	Spleen	Spleen
6	chr10:49891000-49892200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:49891000-49892400	Weak transcription	Esophagus	oesophagus
8	chr10:49891200-49892600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:49891200-49893000	Enhancers	Fetal Thymus	thymus
10	chr10:49891400-49893200	Flanking Active TSS	GM12878-XiMat	blood
11	chr10:49891600-49894800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr10:49892000-49892400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:49892000-49892400	Enhancers	Brain Hippocampus Middle	brain
14	chr10:49892000-49892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:49892000-49892800	Enhancers	Fetal Heart	heart

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