Variant report

Variant	rs769438
Chromosome Location	chr11:64889728-64889729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:507)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64888956-64890102	GM19193	blood:	n/a	n/a
2	POLR2A	chr11:64888689-64890125	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:64889084-64890232	HUVEC	blood vessel:	n/a	n/a
4	PAX5	chr11:64889475-64889898	GM12878	blood:	n/a	chr11:64889613-64889622
5	TEAD4	chr11:64889457-64889941	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMC3	chr11:64889518-64889944	GM12878	blood:	n/a	n/a
7	USF1	chr11:64889426-64889886	A549	lung:	n/a	n/a
8	FOS	chr11:64889611-64889860	MCF10A-Er-Src	breast:	n/a	n/a
9	NFATC1	chr11:64889317-64890072	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:64888279-64890118	HepG2	liver:	n/a	n/a
11	HEY1	chr11:64888709-64890073	K562	blood:	n/a	n/a
12	MXI1	chr11:64888126-64890285	IMR90	lung:	n/a	n/a
13	MAZ	chr11:64889406-64889922	HepG2	liver:	n/a	chr11:64889407-64889418
14	PML	chr11:64889455-64890088	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64889265-64890114	SK-N-SH	brain:	n/a	n/a
16	STAT1	chr11:64889441-64890028	GM12878	blood:	n/a	n/a
17	ETS1	chr11:64889261-64890149	A549	lung:	n/a	n/a
18	GABPA	chr11:64889509-64889889	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:64889384-64890064	K562	blood:	n/a	n/a
20	TAF1	chr11:64889336-64890216	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr11:64889414-64890014	GM12891	blood:	n/a	n/a
22	TAF1	chr11:64889341-64890125	H1-hESC	embryonic stem cell:	n/a	n/a
23	HCFC1	chr11:64888508-64890292	Hela-S3	cervix:	n/a	n/a
24	TAF1	chr11:64889394-64890022	SK-N-SH	brain:	n/a	n/a
25	EBF1	chr11:64889567-64889981	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:64888717-64890028	K562	blood:	n/a	n/a
27	YY1	chr11:64889338-64890278	H1-hESC	embryonic stem cell:	n/a	chr11:64889581-64889598
28	MAX	chr11:64889009-64890010	Hela-S3	cervix:	n/a	chr11:64889407-64889418
29	GABPA	chr11:64889363-64890174	MCF-7	breast:	n/a	n/a
30	NRF1	chr11:64889433-64890166	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr11:64889367-64890093	K562	blood:	n/a	n/a
32	MYC	chr11:64888781-64890174	K562	blood:	n/a	chr11:64889407-64889418
33	EP300	chr11:64889481-64890049	K562	blood:	n/a	n/a
34	POLR2A	chr11:64889198-64890093	HUVEC	blood vessel:	n/a	n/a
35	REST	chr11:64889474-64889972	Hela-S3	cervix:	n/a	chr11:64889902-64889922 chr11:64889910-64889920 chr11:64889902-64889922 chr11:64889905-64889918
36	GTF2F1	chr11:64889425-64889975	K562	blood:	n/a	n/a
37	MTA3	chr11:64889618-64890209	GM12878	blood:	n/a	n/a
38	RUNX3	chr11:64889205-64890107	GM12878	blood:	n/a	n/a
39	ATF3	chr11:64889510-64889850	HepG2	liver:	n/a	chr11:64889647-64889667 chr11:64889636-64889656
40	TAF1	chr11:64889344-64890099	K562	blood:	n/a	n/a
41	JUN	chr11:64889150-64890386	K562	blood:	n/a	n/a
42	ZNF143	chr11:64889595-64889910	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUND	chr11:64889373-64890017	A549	lung:	n/a	n/a
44	SPI1	chr11:64889355-64889890	GM12891	blood:	n/a	chr11:64889603-64889610 chr11:64889599-64889612
45	TAF1	chr11:64889338-64890158	Hela-S3	cervix:	n/a	n/a
46	YY1	chr11:64889146-64890318	SK-N-SH	brain:	n/a	chr11:64889581-64889598
47	POLR2A	chr11:64888094-64890053	GM12892	blood:	n/a	n/a
48	KAP1	chr11:64889566-64890105	U2OS	brain:	n/a	n/a
49	REST	chr11:64889400-64890153	A549	lung:	n/a	chr11:64889902-64889922 chr11:64889910-64889920 chr11:64889902-64889922 chr11:64889905-64889918
50	ELF1	chr11:64889355-64889954	HepG2	liver:	n/a	chr11:64889600-64889611

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64889325..64890067-chr12:120729252..120730106,2	HCT-116	colon:
2	chr11:64544794..64547284-chr11:64888785..64891243,2	MCF-7	breast:
3	chr11:64645037..64647722-chr11:64889185..64892415,3	MCF-7	breast:
4	chr11:64609575..64612155-chr11:64889675..64891357,2	MCF-7	breast:
5	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
6	chr11:64888409..64891347-chr11:64936765..64941464,6	MCF-7	breast:
7	chr11:64887671..64894047-chr11:64935608..64941283,15	K562	blood:
8	chr11:64611788..64615884-chr11:64889092..64892306,4	K562	blood:
9	chr11:64889679..64890185-chr12:62654110..62654697,2	Hela-S3	cervix:
10	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
11	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
12	chr11:64887534..64891326-chr11:65027495..65030120,4	MCF-7	breast:
13	chr11:64862442..64864191-chr11:64887487..64890619,3	K562	blood:
14	chr11:64888951..64891503-chr11:64955622..64957144,2	MCF-7	breast:
15	chr11:64887057..64892358-chr11:65027493..65031887,5	K562	blood:
16	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
17	chr11:64619768..64622619-chr11:64888146..64890410,3	MCF-7	breast:
18	chr11:64888312..64893387-chr11:64951706..64955535,4	K562	blood:
19	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
20	chr11:64851613..64854142-chr11:64888312..64890882,3	K562	blood:
21	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
22	chr11:64889440..64890069-chr11:64948423..64948930,2	MCF-7	breast:
23	chr11:64793339..64795778-chr11:64887755..64890095,2	K562	blood:
24	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:
25	chr11:64644851..64646758-chr11:64889703..64891986,3	K562	blood:
26	chr11:64888451..64891449-chr11:64936430..64939217,7	K562	blood:
27	chr11:64889227..64890030-chr18:74843615..74844269,2	HCT-116	colon:
28	chr11:64844285..64846947-chr11:64888337..64891082,3	K562	blood:
29	chr11:64781559..64786098-chr11:64888152..64890441,5	MCF-7	breast:
30	chr11:64889401..64890183-chr3:158449447..158450182,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
FAU	TF binding region
ZNHIT2	TF binding region
MRPL49	TF binding region
ENSG00000204710	Chromatin interaction
ENSG00000118855	Chromatin interaction
ENSG00000197971	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000135655	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000240207	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs11826724	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17743381	0.82[YRI][hapmap]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs4149823	1.00[YRI][hapmap]
rs4149824	1.00[YRI][hapmap]
rs4149828	1.00[YRI][hapmap]
rs4149839	1.00[YRI][hapmap]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs58306239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60034183	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60169759	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61202604	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477217	1.00[AMR][1000 genomes]
rs73477223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477224	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73477237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73495060	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769439	0.92[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64888200-64890000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr11:64888400-64890000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:64888400-64890600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:64888600-64890600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:64888600-64890600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:64888800-64890200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:64888800-64890200	Active TSS	Aorta	Aorta
8	chr11:64888800-64890200	Active TSS	Lung	lung
9	chr11:64888800-64890200	Active TSS	Ovary	ovary
10	chr11:64888800-64890200	Active TSS	Small Intestine	intestine
11	chr11:64888800-64890200	Bivalent/Poised TSS	HepG2	liver
12	chr11:64888800-64890400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:64888800-64890400	Active TSS	Left Ventricle	heart
14	chr11:64888800-64890400	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr11:64888800-64890600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:64888800-64890600	Active TSS	HSMM	muscle
17	chr11:64888800-64891400	Active TSS	GM12878-XiMat	blood
18	chr11:64889000-64890000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:64889000-64890000	Transcr. at gene 5' and 3'	Right Atrium	heart
20	chr11:64889000-64890000	Active TSS	Stomach Mucosa	stomach
21	chr11:64889000-64890000	Active TSS	HUVEC	blood vessel
22	chr11:64889000-64890200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:64889000-64890200	Active TSS	Psoas Muscle	Psoas
24	chr11:64889000-64890200	Active TSS	NHDF-Ad	bronchial
25	chr11:64889000-64890400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:64889000-64890400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:64889000-64890400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:64889000-64890400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:64889000-64890400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:64889000-64890400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:64889000-64890400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:64889000-64890400	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr11:64889000-64890400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:64889000-64890400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr11:64889000-64890400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:64889000-64890400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:64889000-64890400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:64889000-64890400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr11:64889000-64890400	Active TSS	Fetal Heart	heart
40	chr11:64889000-64890400	Active TSS	Fetal Intestine Large	intestine
41	chr11:64889000-64890400	Active TSS	Pancreas	Pancrea
42	chr11:64889000-64890400	Active TSS	Thymus	Thymus
43	chr11:64889000-64890400	Active TSS	Hela-S3	cervix
44	chr11:64889000-64890400	Active TSS	NH-A	brain
45	chr11:64889000-64890400	Active TSS	NHLF	lung
46	chr11:64889000-64890400	Active TSS	Osteobl	bone
47	chr11:64889000-64890600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:64889000-64890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:64889000-64890600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr11:64889000-64890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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