Variant report

Variant	rs73484983
Chromosome Location	chr11:65059181-65059182
allele	C/T
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	chr11:65058760-65059345	GM12892	blood:	n/a	n/a
2	SMC3	chr11:65059178-65059461	Hela-S3	cervix:	n/a	chr11:65059257-65059265
3	POLR2A	chr11:65059153-65059229	HepG2	liver:	n/a	n/a
4	EP300	chr11:65059158-65060027	Hela-S3	cervix:	n/a	chr11:65059398-65059407
5	MAFK	chr11:65059172-65060017	HepG2	liver:	n/a	chr11:65059393-65059413 chr11:65059400-65059409 chr11:65059392-65059407 chr11:65059395-65059411 chr11:65059397-65059407 chr11:65059396-65059410
6	RCOR1	chr11:65059072-65059463	Hela-S3	cervix:	n/a	n/a
7	MAFK	chr11:65059050-65060062	IMR90	lung:	n/a	chr11:65059393-65059413 chr11:65059400-65059409 chr11:65059392-65059407 chr11:65059395-65059411 chr11:65059397-65059407 chr11:65059396-65059410
8	MAZ	chr11:65059178-65059363	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr11:65059179-65059433	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:65059127-65060037	Hela-S3	cervix:	n/a	chr11:65059398-65059407
11	MAZ	chr11:65058895-65060766	IMR90	lung:	n/a	chr11:65059398-65059407 chr11:65060252-65060263 chr11:65060417-65060426
12	TBP	chr11:65059164-65060021	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:65058064-65060093	IMR90	lung:	n/a	n/a
14	POLR2A	chr11:65058735-65059225	K562	blood:	n/a	n/a
15	POLR2A	chr11:65058011-65059356	HL-60	blood:	n/a	n/a
16	MAFK	chr11:65059064-65059590	HepG2	liver:	n/a	chr11:65059393-65059413 chr11:65059400-65059409 chr11:65059392-65059407 chr11:65059395-65059411 chr11:65059397-65059407 chr11:65059396-65059410
17	TCF12	chr11:65058909-65059597	A549	lung:	n/a	n/a
18	TCF7L2	chr11:65058956-65060121	Hela-S3	cervix:	n/a	chr11:65059399-65059408
19	POLR2A	chr11:65058089-65059319	GM12878	blood:	n/a	n/a
20	MAX	chr11:65059148-65060040	Hela-S3	cervix:	n/a	chr11:65059398-65059407
21	RFX5	chr11:65059145-65060029	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:65058255-65060266	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:65059038-65059501	Hela-S3	cervix:	n/a	n/a
24	MAFK	chr11:65058732-65060204	Hela-S3	cervix:	n/a	chr11:65059393-65059413 chr11:65059400-65059409 chr11:65059392-65059407 chr11:65059395-65059411 chr11:65059397-65059407 chr11:65059396-65059410
25	POLR2A	chr11:65058157-65059196	GM12878	blood:	n/a	n/a
26	EBF1	chr11:65059046-65059384	GM12878	blood:	n/a	n/a
27	MAX	chr11:65059072-65060159	A549	lung:	n/a	chr11:65059398-65059407
28	POLR2A	chr11:65058918-65059202	K562	blood:	n/a	n/a
29	FOSL2	chr11:65059075-65059982	A549	lung:	n/a	chr11:65059400-65059407 chr11:65059399-65059407 chr11:65059398-65059408 chr11:65059399-65059407
30	POLR2A	chr11:65058858-65060194	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr11:65059006-65059407	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:65058803-65059186	GM12891	blood:	n/a	n/a
33	MAFK	chr11:65058305-65059667	GM12878	blood:	n/a	chr11:65059393-65059413 chr11:65059400-65059409 chr11:65059392-65059407 chr11:65059395-65059411 chr11:65059397-65059407 chr11:65059396-65059410
34	STAT3	chr11:65059109-65059446	Hela-S3	cervix:	n/a	n/a
35	JUND	chr11:65058314-65060037	Hela-S3	cervix:	n/a	chr11:65059400-65059407 chr11:65059399-65059407 chr11:65059398-65059408 chr11:65059399-65059407 chr11:65059397-65059408
36	POLR2A	chr11:65058809-65059357	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:65058813-65059268	K562	blood:	n/a	n/a
38	POLR2A	chr11:65059137-65059457	Hela-S3	cervix:	n/a	n/a
39	MAFF	chr11:65059169-65059937	HepG2	liver:	n/a	chr11:65059396-65059410 chr11:65059397-65059415
40	EBF1	chr11:65058985-65059389	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65057044..65059352-chr11:65273855..65276617,2	K562	blood:
2	chr11:65049877..65053705-chr11:65055914..65059488,4	K562	blood:
3	chr11:65039896..65042561-chr11:65057779..65060143,2	K562	blood:
4	chr11:65049245..65052831-chr11:65057278..65059525,4	K562	blood:
5	chr11:65057368..65060062-chr11:65082179..65086462,5	K562	blood:
6	chr11:65059001..65059805-chr11:65097054..65097960,2	K562	blood:
7	chr11:65057209..65061295-chr11:65190411..65193385,3	K562	blood:
8	chr11:65039605..65041396-chr11:65058643..65061112,2	K562	blood:
9	chr11:65058175..65060468-chr11:65184473..65187449,2	MCF-7	breast:
10	chr11:65054454..65057317-chr11:65058868..65061656,2	MCF-7	breast:
11	chr11:65058707..65061317-chr11:65062502..65064262,2	K562	blood:
12	chr11:65058796..65060514-chr11:65089215..65091346,2	MCF-7	breast:

Variant related genes	Relation type
POLA2	TF binding region
ENSG00000149798	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17881362	1.00[AMR][1000 genomes]
rs4149847	0.94[AFR][1000 genomes]
rs56941891	1.00[AMR][1000 genomes]
rs58175858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60560944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription 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	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS 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	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
3	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
4	chr11:65042800-65072800	Strong transcription	Dnd41	blood
5	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:65043200-65066400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:65043200-65066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:65043400-65067200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:65043400-65067200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:65043600-65065000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:65044000-65065600	Strong transcription	Thymus	Thymus
13	chr11:65044400-65066200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:65045000-65066600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:65045600-65065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:65045800-65067200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:65046000-65067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:65047600-65064800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:65047800-65075800	Weak transcription	Small Intestine	intestine
20	chr11:65048400-65065000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:65048400-65069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:65050200-65061800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:65050200-65062200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:65050400-65059600	Weak transcription	Brain Germinal Matrix	brain
25	chr11:65052400-65059600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:65052400-65066600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:65053200-65066200	Strong transcription	HMEC	breast
28	chr11:65053200-65067000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:65053600-65066400	Strong transcription	NHEK	skin
30	chr11:65054200-65063800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:65054200-65065000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:65054200-65065000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:65054600-65066000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:65054800-65060000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:65056000-65068800	Genic enhancers	Fetal Stomach	stomach
36	chr11:65056200-65059400	Enhancers	Placenta	Placenta
37	chr11:65056400-65061000	Enhancers	Left Ventricle	heart
38	chr11:65056400-65062000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:65057000-65059200	Genic enhancers	Primary B cells from cord blood	blood
40	chr11:65057200-65060000	Enhancers	Fetal Muscle Leg	muscle
41	chr11:65057200-65061200	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:65057200-65065600	Weak transcription	Aorta	Aorta
43	chr11:65057400-65065400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:65057400-65065400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:65057600-65060200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr11:65057600-65060800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:65057600-65061600	Enhancers	Ovary	ovary
48	chr11:65057800-65059400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:65057800-65059400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:65057800-65059800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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