Variant report

Variant	rs4412771
Chromosome Location	chr11:71763681-71763682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71763655-71763788	ProgFib	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71755325..71758391-chr11:71761428..71765231,3	MCF-7	breast:
2	chr11:71763194..71764803-chr11:71765749..71768141,2	K562	blood:
3	chr11:71752163..71754236-chr11:71761632..71764026,2	MCF-7	breast:
4	chr11:71756268..71758730-chr11:71762348..71764647,3	K562	blood:
5	chr11:71751472..71753513-chr11:71763350..71766193,2	K562	blood:
6	chr11:71763096..71766036-chr11:71791646..71793304,2	MCF-7	breast:
7	chr11:71757230..71759123-chr11:71761836..71763848,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-292P	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10450664	0.82[ASN][1000 genomes]
rs10501408	0.86[ASN][1000 genomes]
rs1057992	0.90[ASN][1000 genomes]
rs10736780	0.86[ASN][1000 genomes]
rs10736783	0.86[ASN][1000 genomes]
rs10751188	0.86[ASN][1000 genomes]
rs10751191	0.86[ASN][1000 genomes]
rs10751192	0.86[ASN][1000 genomes]
rs10793011	0.86[ASN][1000 genomes]
rs10793013	0.86[ASN][1000 genomes]
rs10793014	0.86[ASN][1000 genomes]
rs10793015	0.86[ASN][1000 genomes]
rs10898812	0.86[ASN][1000 genomes]
rs11235441	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11235444	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12272086	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12275171	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12293195	0.85[AMR][1000 genomes]
rs12417471	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1541304	0.87[ASN][1000 genomes]
rs1548348	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1573501	0.90[ASN][1000 genomes]
rs1573503	0.87[ASN][1000 genomes]
rs17161751	0.86[ASN][1000 genomes]
rs1892920	0.86[ASN][1000 genomes]
rs1894004	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2155142	0.86[ASN][1000 genomes]
rs2155145	0.90[ASN][1000 genomes]
rs2155146	0.85[ASN][1000 genomes]
rs2276384	0.86[ASN][1000 genomes]
rs2276396	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2503	0.90[ASN][1000 genomes]
rs2508856	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2508860	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2511120	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2735787	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2845860	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2852365	0.87[ASN][1000 genomes]
rs3018310	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3750907	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3829215	0.86[ASN][1000 genomes]
rs4245463	0.90[ASN][1000 genomes]
rs4378421	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4387373	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4399349	0.84[ASN][1000 genomes]
rs4477459	0.90[ASN][1000 genomes]
rs482197	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4944243	0.86[ASN][1000 genomes]
rs4945378	0.86[ASN][1000 genomes]
rs4945392	0.86[ASN][1000 genomes]
rs541228	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56255748	0.86[ASN][1000 genomes]
rs564294	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs567026	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs575831	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs575871	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs577435	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58417942	0.90[ASN][1000 genomes]
rs595062	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60054591	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs612255	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs628025	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs645603	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6592447	0.86[ASN][1000 genomes]
rs6592456	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6592457	0.90[ASN][1000 genomes]
rs661290	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs671132	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs674319	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs686340	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7101553	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7102523	0.86[ASN][1000 genomes]
rs7106653	0.86[ASN][1000 genomes]
rs7106730	0.86[ASN][1000 genomes]
rs7111379	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7113436	0.86[ASN][1000 genomes]
rs7113520	0.86[ASN][1000 genomes]
rs7115513	0.86[ASN][1000 genomes]
rs7121080	0.86[ASN][1000 genomes]
rs7126394	0.85[ASN][1000 genomes]
rs73531955	0.86[ASN][1000 genomes]
rs73543612	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73543635	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73543640	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73543643	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7924834	0.86[ASN][1000 genomes]
rs7942626	0.86[ASN][1000 genomes]
rs7951564	0.82[ASN][1000 genomes]
rs949323	0.83[ASN][1000 genomes]
rs949326	0.85[ASN][1000 genomes]
rs9666346	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[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
rs4412771	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71753200-71772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:71753200-71773000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:71753400-71765800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:71753400-71769800	Weak transcription	Psoas Muscle	Psoas
5	chr11:71753800-71764600	Weak transcription	HSMM	muscle
6	chr11:71754000-71767200	Weak transcription	Small Intestine	intestine
7	chr11:71754000-71769600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:71754000-71769600	Weak transcription	NH-A	brain
9	chr11:71754000-71769600	Weak transcription	NHLF	lung
10	chr11:71754000-71769600	Weak transcription	Osteobl	bone
11	chr11:71754000-71771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:71754000-71772000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:71754200-71769400	Weak transcription	HMEC	breast
14	chr11:71754200-71769400	Weak transcription	NHDF-Ad	bronchial
15	chr11:71754200-71769400	Weak transcription	NHEK	skin
16	chr11:71754200-71769600	Weak transcription	HSMMtube	muscle
17	chr11:71754200-71771000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:71754200-71772800	Weak transcription	Lung	lung
19	chr11:71754200-71777400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:71754200-71777600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:71754200-71777600	Weak transcription	Colonic Mucosa	Colon
22	chr11:71754200-71777800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
25	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
26	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
27	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:71755400-71765400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:71755800-71778000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:71756000-71767400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:71756200-71768200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:71756400-71764000	Strong transcription	Hela-S3	cervix
36	chr11:71756400-71768000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:71756600-71770600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:71757200-71777600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:71757400-71772800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:71757400-71777800	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:71757800-71769600	Weak transcription	Esophagus	oesophagus
43	chr11:71757800-71776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:71758200-71766200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:71758200-71767000	Strong transcription	Dnd41	blood
46	chr11:71758400-71771200	Weak transcription	Fetal Stomach	stomach
47	chr11:71759400-71769800	Weak transcription	Right Ventricle	heart
48	chr11:71760000-71772600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:71760000-71777600	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:71760000-71780400	Weak transcription	Left Ventricle	heart

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