Variant report

Variant	rs17146805
Chromosome Location	chr11:65058506-65058507
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	MAZ	chr11:65058244-65058590	GM12878	blood:	n/a	n/a
2	MAZ	chr11:65057951-65058863	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:65058073-65058925	U87	brain:	n/a	n/a
4	POLR2A	chr11:65058136-65058684	GM12892	blood:	n/a	n/a
5	FOS	chr11:65058220-65058538	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:65058257-65058577	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:65058217-65058637	K562	blood:	n/a	n/a
8	POLR2A	chr11:65058271-65058508	K562	blood:	n/a	n/a
9	POLR2A	chr11:65058106-65058674	HL-60	blood:	n/a	n/a
10	STAT3	chr11:65058237-65058702	MCF10A-Er-Src	breast:	n/a	chr11:65058521-65058530 chr11:65058520-65058529 chr11:65058519-65058530
11	POLR2A	chr11:65058097-65058906	U87	brain:	n/a	n/a
12	POLR2A	chr11:65058064-65060093	IMR90	lung:	n/a	n/a
13	EGR1	chr11:65058184-65058514	K562	blood:	n/a	n/a
14	POLR2A	chr11:65058285-65058726	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:65057950-65058889	U87	brain:	n/a	n/a
16	SPI1	chr11:65058093-65058785	HL-60	blood:	n/a	n/a
17	CHD2	chr11:65058337-65058581	GM12878	blood:	n/a	n/a
18	EBF1	chr11:65058111-65058631	GM12878	blood:	n/a	chr11:65058353-65058363 chr11:65058352-65058363
19	SPI1	chr11:65058208-65058626	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:65058011-65059356	HL-60	blood:	n/a	n/a
21	GATA2	chr11:65058161-65058915	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr11:65058419-65058513	HUVEC	blood vessel:	n/a	n/a
23	STAT3	chr11:65058273-65058548	MCF10A-Er-Src	breast:	n/a	chr11:65058521-65058530 chr11:65058520-65058529 chr11:65058519-65058530
24	POLR2A	chr11:65058089-65059319	GM12878	blood:	n/a	n/a
25	SPI1	chr11:65058121-65058721	HL-60	blood:	n/a	n/a
26	POLR2A	chr11:65058255-65060266	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:65058219-65058675	HUVEC	blood vessel:	n/a	n/a
28	MYC	chr11:65058227-65058515	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:65057982-65058889	U87	brain:	n/a	n/a
30	CUX1	chr11:65058186-65058531	GM12878	blood:	n/a	n/a
31	STAT3	chr11:65058209-65058676	MCF10A-Er-Src	breast:	n/a	chr11:65058521-65058530 chr11:65058520-65058529 chr11:65058519-65058530
32	SPI1	chr11:65058173-65058647	GM12878	blood:	n/a	n/a
33	EP300	chr11:65058414-65058549	K562	blood:	n/a	chr11:65058540-65058547
34	ELF1	chr11:65058255-65058801	GM12878	blood:	n/a	chr11:65058538-65058547 chr11:65058519-65058532 chr11:65058537-65058548
35	POLR2A	chr11:65058157-65059196	GM12878	blood:	n/a	n/a
36	STAT3	chr11:65058311-65058672	MCF10A-Er-Src	breast:	n/a	chr11:65058521-65058530 chr11:65058520-65058529 chr11:65058519-65058530
37	SP1	chr11:65058150-65058711	GM12878	blood:	n/a	n/a
38	ATF2	chr11:65058073-65058639	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:65058125-65058831	HUVEC	blood vessel:	n/a	n/a
40	SP1	chr11:65058149-65058573	GM12878	blood:	n/a	n/a
41	TAF1	chr11:65058349-65058709	GM12878	blood:	n/a	n/a
42	RUNX3	chr11:65058163-65058581	GM12878	blood:	n/a	n/a
43	EBF1	chr11:65058172-65058587	GM12878	blood:	n/a	chr11:65058353-65058363 chr11:65058352-65058363
44	POLR2A	chr11:65058178-65058591	K562	blood:	n/a	n/a
45	PAX5	chr11:65058132-65058603	GM12878	blood:	n/a	chr11:65058542-65058551 chr11:65058168-65058177
46	ELK1	chr11:65058364-65058641	GM12878	blood:	n/a	chr11:65058539-65058548 chr11:65058539-65058548
47	MTA3	chr11:65058057-65058664	GM12878	blood:	n/a	n/a
48	CEBPB	chr11:65058119-65058604	IMR90	lung:	n/a	n/a
49	ELF1	chr11:65058268-65058712	K562	blood:	n/a	chr11:65058538-65058547 chr11:65058519-65058532 chr11:65058537-65058548
50	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

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	chr11:65054328..65055903-chr11:65056959..65058709,2	K562	blood:
7	chr11:65057209..65061295-chr11:65190411..65193385,3	K562	blood:
8	chr11:65058175..65060468-chr11:65184473..65187449,2	MCF-7	breast:
9	chr11:65045668..65049157-chr11:65055365..65058744,5	K562	blood:

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

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][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	chr11:65030200-65058800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65030600-65058800	Weak transcription	Psoas Muscle	Psoas
3	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
5	chr11:65042800-65059000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
7	chr11:65042800-65072800	Strong transcription	Dnd41	blood
8	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:65043200-65066400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:65043200-65066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:65043400-65059000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:65043400-65067200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr11:65043400-65067200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:65043600-65065000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:65044000-65065600	Strong transcription	Thymus	Thymus
17	chr11:65044400-65058800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:65044400-65066200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:65045000-65066600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr11:65045600-65065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:65045800-65067200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:65046000-65067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:65047600-65064800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:65047800-65075800	Weak transcription	Small Intestine	intestine
25	chr11:65048400-65058600	Strong transcription	Fetal Intestine Small	intestine
26	chr11:65048400-65065000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:65048400-65069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:65048800-65058800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:65050200-65058600	Weak transcription	Colonic Mucosa	Colon
30	chr11:65050200-65061800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:65050200-65062200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:65050400-65058800	Weak transcription	Esophagus	oesophagus
33	chr11:65050400-65058800	Weak transcription	Gastric	stomach
34	chr11:65050400-65059600	Weak transcription	Brain Germinal Matrix	brain
35	chr11:65052400-65059600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:65052400-65066600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:65053200-65066200	Strong transcription	HMEC	breast
38	chr11:65053200-65067000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:65053600-65066400	Strong transcription	NHEK	skin
40	chr11:65054200-65063800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:65054200-65065000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:65054200-65065000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:65054600-65066000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:65054800-65058800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:65054800-65060000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:65055200-65059000	Weak transcription	Fetal Brain Female	brain
47	chr11:65056000-65058600	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:65056000-65068800	Genic enhancers	Fetal Stomach	stomach
49	chr11:65056200-65058600	Enhancers	Brain Substantia Nigra	brain
50	chr11:65056200-65059400	Enhancers	Placenta	Placenta

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