Variant report

Variant	rs482197
Chromosome Location	chr11:71781247-71781248
allele	A/G
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	TBP	chr11:71780914-71781346	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:71780994-71781337	A549	lung:	n/a	n/a
3	PRDM1	chr11:71781011-71781337	Hela-S3	cervix:	n/a	chr11:71781271-71781285
4	NR2F2	chr11:71780815-71781367	MCF-7	breast:	n/a	n/a
5	GTF2F1	chr11:71780687-71781420	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:71780831-71781406	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:71780723-71781439	GM12892	blood:	n/a	n/a
8	ELF1	chr11:71780945-71781267	GM12878	blood:	n/a	n/a
9	MAZ	chr11:71781026-71781365	Hela-S3	cervix:	n/a	n/a
10	NR2F2	chr11:71780853-71781393	MCF-7	breast:	n/a	n/a
11	RUNX3	chr11:71780149-71781382	GM12878	blood:	n/a	n/a
12	SRF	chr11:71780849-71781510	MCF-7	breast:	n/a	n/a
13	ELF1	chr11:71780859-71781299	K562	blood:	n/a	n/a
14	MAX	chr11:71780832-71781402	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr11:71780792-71781423	SK-N-SH	brain:	n/a	chr11:71781107-71781119 chr11:71781109-71781117
16	POLR2A	chr11:71781015-71781306	ProgFib	skin:	n/a	n/a
17	TAF1	chr11:71780929-71781338	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:71780831-71781356	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr11:71781023-71781274	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:71780963-71781378	SK-N-SH	brain:	n/a	n/a
21	STAT3	chr11:71780967-71781472	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:71780961-71781387	U87	brain:	n/a	n/a
23	FOSL2	chr11:71780900-71781344	SK-N-SH	brain:	n/a	chr11:71781107-71781119 chr11:71781109-71781117
24	SMC3	chr11:71780814-71781317	Hela-S3	cervix:	n/a	chr11:71780887-71780895
25	RFX5	chr11:71780958-71781321	Hela-S3	cervix:	n/a	n/a
26	SP1	chr11:71780713-71781584	HCT-116	colon:	n/a	chr11:71781178-71781188 chr11:71781178-71781188
27	USF2	chr11:71780949-71781341	Hela-S3	cervix:	n/a	n/a
28	TAF1	chr11:71780940-71781265	Hela-S3	cervix:	n/a	n/a
29	ESR1	chr11:71780921-71781253	ECC-1	luminal epithelium:	n/a	n/a
30	FOSL2	chr11:71780852-71781374	A549	lung:	n/a	chr11:71781107-71781119 chr11:71781109-71781117
31	STAT3	chr11:71781034-71781353	MCF10A-Er-Src	breast:	n/a	n/a
32	BRCA1	chr11:71780991-71781454	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr11:71780943-71781375	Hela-S3	cervix:	n/a	n/a
34	FOS	chr11:71780761-71781474	HUVEC	blood vessel:	n/a	chr11:71781107-71781119 chr11:71781109-71781117 chr11:71781107-71781118
35	POLR2A	chr11:71780869-71781324	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:71780899-71781363	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:71780662-71781597	HUVEC	blood vessel:	n/a	n/a
38	YY1	chr11:71780925-71781252	SK-N-SH_RA	brain:	n/a	n/a
39	YY1	chr11:71780854-71781257	ECC-1	luminal epithelium:	n/a	n/a
40	WRNIP1	chr11:71781056-71781305	GM12878	blood:	n/a	n/a
41	SMARCC1	chr11:71780861-71781377	Hela-S3	cervix:	n/a	chr11:71781108-71781117
42	JUND	chr11:71780917-71781344	Hela-S3	cervix:	n/a	chr11:71781107-71781118 chr11:71781107-71781119 chr11:71781109-71781117
43	STAT1	chr11:71781142-71781277	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:71781234-71781277	HUVEC	blood vessel:	n/a	n/a
45	FOS	chr11:71780834-71781336	MCF10A-Er-Src	breast:	n/a	chr11:71781107-71781119 chr11:71781109-71781117 chr11:71781107-71781118
46	MXI1	chr11:71780840-71781278	Hela-S3	cervix:	n/a	n/a
47	PAX5	chr11:71780913-71781281	GM12878	blood:	n/a	n/a
48	UBTF	chr11:71781040-71781273	K562	blood:	n/a	n/a
49	YY1	chr11:71780743-71781265	A549	lung:	n/a	n/a
50	IKZF1	chr11:71780278-71781517	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71780787..71782950-chr11:71789834..71792937,3	MCF-7	breast:
2	chr11:71780121..71782648-chr11:72143336..72145276,2	K562	blood:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71749103..71754368-chr11:71778297..71785639,14	MCF-7	breast:
5	chr11:71779732..71781998-chr11:71797035..71799576,2	K562	blood:
6	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
7	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000206783	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10450664	0.81[ASN][1000 genomes]
rs10501408	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1057992	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736780	0.85[ASN][1000 genomes]
rs10736783	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751188	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751191	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751192	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793011	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793013	0.85[ASN][1000 genomes]
rs10793014	0.85[ASN][1000 genomes]
rs10793015	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898812	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235444	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12272086	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12275171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12293195	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12417471	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1541304	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1548348	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573501	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1573503	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161751	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1892920	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1894004	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155142	0.85[ASN][1000 genomes]
rs2155145	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2155146	0.83[ASN][1000 genomes]
rs2276384	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276396	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2503	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2508860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2735787	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2845860	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2852365	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018310	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750907	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3829215	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4245463	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4378421	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4387373	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399349	0.82[ASN][1000 genomes]
rs4412771	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4477459	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944243	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945378	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945392	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs510925	0.86[AMR][1000 genomes]
rs541228	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56255748	0.85[ASN][1000 genomes]
rs564294	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs567026	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs575831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575871	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs577435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58417942	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60054591	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs612255	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628025	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs645603	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592447	0.85[ASN][1000 genomes]
rs6592456	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592457	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs661290	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs671132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674319	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686340	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7101553	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7102523	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106653	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106730	0.85[ASN][1000 genomes]
rs7111379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113436	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7113520	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7115513	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7121080	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7126394	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73531955	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73543612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73543635	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73543640	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73543643	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7924834	0.85[ASN][1000 genomes]
rs7942626	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7951564	0.81[ASN][1000 genomes]
rs949323	0.81[ASN][1000 genomes]
rs949326	0.84[ASN][1000 genomes]
rs9666346	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[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	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
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs482197	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
2	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:71770000-71783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
8	chr11:71773200-71783200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:71773600-71783000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:71776600-71783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:71776800-71781600	Strong transcription	Dnd41	blood
12	chr11:71777400-71783000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:71778400-71789800	Weak transcription	Brain Germinal Matrix	brain
14	chr11:71779200-71784600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:71779200-71786200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:71779400-71783000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:71779400-71784400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:71779400-71790200	Weak transcription	Thymus	Thymus
19	chr11:71779600-71781400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:71779600-71781800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:71779600-71782000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:71779600-71782000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:71779800-71781600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:71779800-71781600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:71779800-71782200	Flanking Active TSS	GM12878-XiMat	blood
26	chr11:71780000-71781400	Enhancers	Fetal Heart	heart
27	chr11:71780000-71781600	Flanking Active TSS	NH-A	brain
28	chr11:71780000-71781800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:71780000-71781800	Enhancers	Brain Anterior Caudate	brain
30	chr11:71780000-71781800	Flanking Active TSS	Osteobl	bone
31	chr11:71780000-71782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:71780000-71782000	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:71780000-71782400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:71780000-71783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:71780200-71781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:71780200-71781600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:71780200-71781600	Flanking Active TSS	A549	lung
38	chr11:71780200-71781600	Flanking Active TSS	HMEC	breast
39	chr11:71780200-71781800	Enhancers	Colonic Mucosa	Colon
40	chr11:71780200-71781800	Genic enhancers	NHEK	skin
41	chr11:71780200-71782200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:71780200-71782200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:71780200-71782200	Genic enhancers	K562	blood
44	chr11:71780200-71784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:71780200-71785000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:71780400-71781400	Flanking Active TSS	NHLF	lung
47	chr11:71780400-71781600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:71780400-71781600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:71780400-71781600	Enhancers	Liver	Liver
50	chr11:71780400-71781600	Enhancers	Brain Angular Gyrus	brain

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