Variant report

Variant	rs3750907
Chromosome Location	chr11:71822560-71822561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:71822480-71824020	K562	blood:	n/a	chr11:71823713-71823722 chr11:71823695-71823711
2	GTF2F1	chr11:71822499-71822686	K562	blood:	n/a	n/a
3	POLR2A	chr11:71822004-71824821	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:71821894-71824788	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:71822414-71824888	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:71822508-71822874	U87	brain:	n/a	n/a
7	RCOR1	chr11:71822369-71824146	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:71822329-71824375	GM12878	blood:	n/a	n/a
9	MTA3	chr11:71822263-71824835	GM12878	blood:	n/a	n/a
10	SMARCC1	chr11:71822115-71824757	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:71822369-71824831	MCF10A-Er-Src	breast:	n/a	n/a
12	ZMIZ1	chr11:71822492-71824717	K562	blood:	n/a	n/a
13	MXI1	chr11:71821877-71824738	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:71822382-71824609	HUVEC	blood vessel:	n/a	n/a
15	WRNIP1	chr11:71822429-71824469	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:71822407-71824679	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:71822512-71824613	U87	brain:	n/a	n/a
18	RCOR1	chr11:71822094-71824845	IMR90	lung:	n/a	n/a
19	POLR2A	chr11:71822333-71824817	HUVEC	blood vessel:	n/a	n/a
20	MAZ	chr11:71822559-71824613	IMR90	lung:	n/a	n/a
21	POLR2A	chr11:71822147-71824770	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:71822463-71824324	H1-neurons	neurons:	n/a	n/a
23	REST	chr11:71822535-71824540	H1-neurons	neurons:	n/a	chr11:71823191-71823204 chr11:71823942-71823956
24	POLR2A	chr11:71821953-71824877	GM12878	blood:	n/a	n/a
25	JUND	chr11:71822422-71824146	K562	blood:	n/a	chr11:71823555-71823564
26	POLR2A	chr11:71822508-71822979	U87	brain:	n/a	n/a
27	POLR2A	chr11:71822381-71824437	HUVEC	blood vessel:	n/a	n/a
28	NR2F2	chr11:71822224-71824236	K562	blood:	n/a	chr11:71822337-71822352
29	POLR2A	chr11:71822029-71824179	K562	blood:	n/a	n/a
30	POLR2A	chr11:71822269-71824784	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:71821971-71824655	GM12892	blood:	n/a	n/a
32	MXI1	chr11:71821975-71824768	IMR90	lung:	n/a	n/a
33	POLR2A	chr11:71822130-71824715	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:71822345-71824612	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr11:71822370-71824736	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:71822518-71824607	U87	brain:	n/a	n/a
37	PML	chr11:71822494-71824572	GM12878	blood:	n/a	chr11:71823630-71823638
38	POLR2A	chr11:71822131-71824718	Hela-S3	cervix:	n/a	n/a
39	TEAD4	chr11:71822385-71824387	K562	blood:	n/a	n/a
40	POLR2A	chr11:71822506-71824577	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:71822499-71824608	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:71822083-71824896	SK-N-MC	brain:	n/a	n/a
43	CHD1	chr11:71822540-71823378	GM12878	blood:	n/a	n/a
44	ZNF143	chr11:71822475-71824126	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:71822077-71824871	H1-hESC	embryonic stem cell:	n/a	n/a
46	RCOR1	chr11:71822329-71822734	K562	blood:	n/a	n/a
47	HCFC1	chr11:71821583-71824577	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:71822377-71824585	PBDE	blood:	n/a	n/a
49	POLR2A	chr11:71822559-71824643	GM19099	blood:	n/a	n/a
50	RCOR1	chr11:71822361-71822800	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71821211..71823051-chr11:71942558..71945428,2	K562	blood:
2	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
3	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
4	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
5	chr11:71821841..71823408-chr11:72142963..72145568,2	K562	blood:
6	chr11:71749313..71752204-chr11:71820647..71824475,4	MCF-7	breast:
7	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
8	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:
9	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
10	chr11:71822104..71825137-chr11:71839409..71842719,3	K562	blood:
11	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
12	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:

No data

Variant related genes	Relation type
FOLR3	TF binding region
ANAPC15	TF binding region
ENSG00000110203	Chromatin interaction
ENSG00000257075	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10501408	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1057992	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10736780	0.81[ASN][1000 genomes]
rs10736783	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751188	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751191	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10751192	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10793011	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10793013	0.81[ASN][1000 genomes]
rs10793014	0.81[ASN][1000 genomes]
rs10793015	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898812	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235441	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272086	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12275171	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12417471	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1541304	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1548348	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1573501	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573503	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17161751	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1892920	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894004	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155142	0.81[ASN][1000 genomes]
rs2155145	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155146	0.84[EUR][1000 genomes]
rs2276384	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276396	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2503	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2508856	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2508860	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511120	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2735787	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2845860	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2852365	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3018310	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829215	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4245463	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4378421	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4387373	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4412771	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4477459	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs482197	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944243	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945378	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945392	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs510925	0.84[AMR][1000 genomes]
rs541228	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56255748	0.81[ASN][1000 genomes]
rs564294	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs567026	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs575831	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs575871	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs577435	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58417942	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595062	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60054591	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612255	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs628025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs645603	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592447	0.81[ASN][1000 genomes]
rs6592456	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592457	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs661290	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs671132	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs674319	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs686340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7101553	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102523	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7106653	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7106730	0.81[ASN][1000 genomes]
rs7111379	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113436	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7113520	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115513	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121080	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126394	0.89[EUR][1000 genomes]
rs73531955	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73543612	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543635	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543640	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543643	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924834	0.81[ASN][1000 genomes]
rs7942626	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs949326	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9666346	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3750907	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71814800-71822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71815000-71822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:71815000-71822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:71815000-71822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
6	chr11:71815200-71822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:71815200-71822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:71815200-71822600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:71815200-71822600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:71815200-71822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:71815200-71822600	Weak transcription	Fetal Kidney	kidney
12	chr11:71815200-71822600	Weak transcription	Osteobl	bone
13	chr11:71815200-71822800	Weak transcription	Left Ventricle	heart
14	chr11:71815400-71822600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:71815400-71822600	Weak transcription	Liver	Liver
16	chr11:71815400-71822600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:71815400-71822600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:71815400-71822600	Weak transcription	HSMM	muscle
19	chr11:71815600-71822600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:71818800-71822600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:71818800-71822600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:71819400-71822600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:71820000-71822800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:71820000-71822800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:71821000-71822600	Weak transcription	Right Ventricle	heart
26	chr11:71821000-71822600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:71821200-71822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:71821200-71822600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:71821200-71822600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:71821400-71822600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:71821400-71822600	Weak transcription	A549	lung
32	chr11:71821400-71822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:71821600-71822600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:71821600-71822600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:71821600-71822600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:71821600-71822600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:71821600-71822600	Weak transcription	Fetal Brain Female	brain
38	chr11:71821600-71823000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:71821800-71822600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:71821800-71822600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:71821800-71822600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:71821800-71822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:71821800-71822600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:71821800-71822600	Weak transcription	Placenta	Placenta
45	chr11:71821800-71822800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:71821800-71822800	Weak transcription	Lung	lung
47	chr11:71821800-71822800	Weak transcription	Ovary	ovary
48	chr11:71821800-71823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:71822000-71822600	Enhancers	Primary B cells from cord blood	blood
50	chr11:71822000-71822600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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