Variant report

Variant	rs11189106
Chromosome Location	chr10:99052775-99052776
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	GABPA	chr10:99051745-99052832	MCF-7	breast:	n/a	n/a
2	HA-E2F1	chr10:99051668-99052820	MCF-7	breast:	n/a	chr10:99052048-99052055 chr10:99052044-99052055
3	SIX5	chr10:99052406-99052790	K562	blood:	n/a	chr10:99052619-99052628 chr10:99052621-99052630 chr10:99052618-99052632
4	BACH1	chr10:99052348-99052837	K562	blood:	n/a	chr10:99052752-99052766
5	MAZ	chr10:99051424-99052864	IMR90	lung:	n/a	chr10:99052755-99052764 chr10:99052578-99052588 chr10:99052423-99052433
6	MAFK	chr10:99051896-99052898	K562	blood:	n/a	chr10:99052758-99052769 chr10:99052384-99052399 chr10:99052756-99052765
7	NFYB	chr10:99051702-99052869	Hela-S3	cervix:	n/a	chr10:99052470-99052485 chr10:99052438-99052451 chr10:99052438-99052453
8	FOXM1	chr10:99052063-99052867	GM12878	blood:	n/a	n/a
9	SIX5	chr10:99052345-99052789	GM12878	blood:	n/a	chr10:99052619-99052628 chr10:99052621-99052630 chr10:99052618-99052632
10	MAFK	chr10:99052181-99052816	HepG2	liver:	n/a	chr10:99052758-99052769 chr10:99052384-99052399 chr10:99052756-99052765
11	NFYB	chr10:99051826-99052939	GM12878	blood:	n/a	chr10:99052470-99052485 chr10:99052438-99052451 chr10:99052438-99052453
12	SP1	chr10:99051675-99052942	A549	lung:	n/a	chr10:99052584-99052593 chr10:99052420-99052431 chr10:99052577-99052589 chr10:99052584-99052593 chr10:99052421-99052430 chr10:99052583-99052592 chr10:99052422-99052431 chr10:99052421-99052435 chr10:99052577-99052589 chr10:99052420-99052432 chr10:99052599-99052608 chr10:99052420-99052432
13	MAFF	chr10:99052351-99052924	K562	blood:	n/a	chr10:99052383-99052401
14	EP300	chr10:99051618-99052816	K562	blood:	n/a	chr10:99052755-99052764
15	TCF12	chr10:99051629-99052874	ECC-1	luminal epithelium:	n/a	n/a
16	JUND	chr10:99051844-99052868	Hela-S3	cervix:	n/a	chr10:99052755-99052764 chr10:99052754-99052763 chr10:99052753-99052764
17	FOS	chr10:99052279-99052796	MCF10A-Er-Src	breast:	n/a	chr10:99052755-99052764 chr10:99052754-99052763
18	MAFK	chr10:99051798-99052857	IMR90	lung:	n/a	chr10:99052758-99052769 chr10:99052384-99052399 chr10:99052756-99052765
19	ZNF143	chr10:99051800-99052822	H1-hESC	embryonic stem cell:	n/a	chr10:99052612-99052630 chr10:99052621-99052630 chr10:99052619-99052628
20	ZNF143	chr10:99052123-99052823	K562	blood:	n/a	chr10:99052612-99052630 chr10:99052621-99052630 chr10:99052619-99052628
21	ELF1	chr10:99051774-99052813	GM12878	blood:	n/a	chr10:99052175-99052187
22	CREB1	chr10:99052122-99052856	ECC-1	luminal epithelium:	n/a	n/a
23	MAFK	chr10:99051863-99052824	HepG2	liver:	n/a	chr10:99052758-99052769 chr10:99052384-99052399 chr10:99052756-99052765
24	SP1	chr10:99051592-99052910	HCT-116	colon:	n/a	chr10:99052584-99052593 chr10:99052420-99052431 chr10:99052577-99052589 chr10:99052584-99052593 chr10:99052421-99052430 chr10:99052583-99052592 chr10:99052422-99052431 chr10:99052421-99052435 chr10:99052577-99052589 chr10:99052420-99052432 chr10:99052599-99052608 chr10:99052420-99052432
25	FOXM1	chr10:99051773-99052795	ECC-1	luminal epithelium:	n/a	n/a
26	TBL1XR1	chr10:99051436-99052808	K562	blood:	n/a	n/a
27	ZNF384	chr10:99052525-99052859	K562	blood:	n/a	n/a
28	TCF12	chr10:99051565-99052799	A549	lung:	n/a	n/a
29	MYC	chr10:99052741-99053040	H1-hESC	embryonic stem cell:	n/a	chr10:99052755-99052764
30	CREB1	chr10:99051817-99052814	HepG2	liver:	n/a	n/a
31	SP1	chr10:99051645-99052865	A549	lung:	n/a	chr10:99052584-99052593 chr10:99052420-99052431 chr10:99052577-99052589 chr10:99052584-99052593 chr10:99052421-99052430 chr10:99052583-99052592 chr10:99052422-99052431 chr10:99052421-99052435 chr10:99052577-99052589 chr10:99052420-99052432 chr10:99052599-99052608 chr10:99052420-99052432
32	GATA1	chr10:99051894-99053040	PBDE	blood:	n/a	chr10:99052142-99052150
33	GABPA	chr10:99051405-99052802	A549	lung:	n/a	n/a
34	EGR1	chr10:99051679-99052851	HCT-116	colon:	n/a	chr10:99052422-99052437 chr10:99052423-99052433 chr10:99052418-99052440 chr10:99052607-99052631 chr10:99052423-99052436 chr10:99052423-99052436 chr10:99051937-99051961 chr10:99052423-99052436
35	SRF	chr10:99051780-99052797	ECC-1	luminal epithelium:	n/a	chr10:99052423-99052433 chr10:99052582-99052592
36	TBP	chr10:99051574-99052802	K562	blood:	n/a	n/a
37	ZC3H11A	chr10:99052633-99053068	K562	blood:	n/a	n/a
38	GABPA	chr10:99051729-99052791	SK-N-SH	brain:	n/a	n/a
39	ELF1	chr10:99051785-99052777	MCF-7	breast:	n/a	chr10:99052175-99052187
40	PBX3	chr10:99051872-99052781	A549	lung:	n/a	chr10:99052583-99052603 chr10:99052475-99052495
41	E2F4	chr10:99051875-99052809	Hela-S3	cervix:	n/a	chr10:99052566-99052577 chr10:99052584-99052595 chr10:99052048-99052055 chr10:99052044-99052055
42	MYBL2	chr10:99051750-99052901	HepG2	liver:	n/a	n/a
43	ARID3A	chr10:99051614-99052821	HepG2	liver:	n/a	n/a
44	YY1	chr10:99051772-99052820	ECC-1	luminal epithelium:	n/a	chr10:99052089-99052103
45	CUX1	chr10:99052420-99052802	K562	blood:	n/a	n/a
46	ZNF143	chr10:99051799-99052804	Hela-S3	cervix:	n/a	chr10:99052612-99052630 chr10:99052621-99052630 chr10:99052619-99052628
47	GABPA	chr10:99051650-99052830	MCF-7	breast:	n/a	n/a
48	SP1	chr10:99051555-99052990	HCT-116	colon:	n/a	chr10:99052584-99052593 chr10:99052420-99052431 chr10:99052577-99052589 chr10:99052584-99052593 chr10:99052421-99052430 chr10:99052583-99052592 chr10:99052422-99052431 chr10:99052421-99052435 chr10:99052577-99052589 chr10:99052420-99052432 chr10:99052599-99052608 chr10:99052420-99052432
49	JUND	chr10:99051622-99052866	K562	blood:	n/a	chr10:99052755-99052764 chr10:99052754-99052763 chr10:99052753-99052764
50	TBP	chr10:99051380-99052788	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99052581..99054143-chr10:99054832..99057681,2	K562	blood:
2	chr10:99050912..99053751-chr10:99091766..99095025,5	MCF-7	breast:
3	chr10:99049975..99053832-chr10:99093402..99096465,5	K562	blood:
4	chr10:99048545..99053546-chr10:99092341..99096465,6	K562	blood:
5	chr10:99052531..99053031-chr12:32259435..32260354,2	Hela-S3	cervix:
6	chr10:99050343..99055587-chr10:99077475..99082102,7	MCF-7	breast:
7	chr10:99051058..99054984-chr10:99078319..99082092,7	MCF-7	breast:
8	chr10:99051582..99055310-chr10:99077169..99083058,6	K562	blood:
9	chr10:99051582..99054067-chr10:99077169..99079188,3	K562	blood:
10	chr10:99052282..99052884-chr5:41870193..41871067,2	Hela-S3	cervix:
11	chr10:99051045..99053385-chr10:99092824..99094336,2	MCF-7	breast:
12	chr10:99050735..99053520-chr16:284621..286236,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP19	TF binding region
ARHGAP19-SLIT1	TF binding region
ENSG00000181274	Chromatin interaction
ENSG00000165879	Chromatin interaction
ENSG00000225850	Chromatin interaction
ENSG00000151746	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000167930	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10444015	1.00[AFR][1000 genomes]
rs10509713	0.93[AMR][1000 genomes]
rs11189041	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11189055	1.00[CEU][hapmap]
rs11189064	0.87[AMR][1000 genomes]
rs11189065	0.87[AMR][1000 genomes]
rs11189066	0.87[AMR][1000 genomes]
rs11189067	0.87[AMR][1000 genomes]
rs11189072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189073	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189074	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189077	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189078	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189086	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11189087	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11189090	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189092	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189093	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11189094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189095	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11189096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189098	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11189107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189109	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11189117	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11189118	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11189125	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11189129	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11189136	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11189140	0.87[AMR][1000 genomes]
rs11189141	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11189143	0.87[AMR][1000 genomes]
rs11189145	0.93[AMR][1000 genomes]
rs11189146	0.93[AMR][1000 genomes]
rs11189148	0.93[AMR][1000 genomes]
rs11189149	0.93[AMR][1000 genomes]
rs11189158	0.93[AMR][1000 genomes]
rs11189162	0.87[AMR][1000 genomes]
rs11189166	0.93[AMR][1000 genomes]
rs11189170	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs11189198	1.00[AFR][1000 genomes]
rs11189220	1.00[CEU][hapmap]
rs11189230	1.00[ASW][hapmap]
rs12355279	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs12355311	0.87[AMR][1000 genomes]
rs12355523	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12355526	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12356559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12356626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12356648	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12356802	1.00[CEU][hapmap]
rs12356909	0.87[AMR][1000 genomes]
rs12358104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12358257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12358267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12358452	0.87[AMR][1000 genomes]
rs12358777	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12359143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12359467	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12359643	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12359654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12360068	1.00[ASW][hapmap]
rs12360528	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1810982	0.87[AMR][1000 genomes]
rs1970191	0.93[AMR][1000 genomes]
rs1970454	0.93[AMR][1000 genomes]
rs41284270	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs45527941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7917149	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs884450	0.93[AMR][1000 genomes]
rs9645543	0.87[AMR][1000 genomes]
rs9645559	0.87[AMR][1000 genomes]
rs9645560	0.87[AMR][1000 genomes]
rs9645561	1.00[CEU][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised 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	27 gene(s)	inside rSNPs	diseases
5	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv7507	chr10:99031233-99070690	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv975787	chr10:99048466-99061224	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99050200-99052800	Active TSS	K562	blood
2	chr10:99050800-99052800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:99050800-99052800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:99050800-99052800	Active TSS	GM12878-XiMat	blood
5	chr10:99051000-99052800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:99051000-99052800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:99051000-99052800	Active TSS	HSMM	muscle
8	chr10:99051200-99052800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr10:99051200-99052800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr10:99051200-99052800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:99051200-99052800	Active TSS	Stomach Smooth Muscle	stomach
12	chr10:99051200-99052800	Active TSS	A549	lung
13	chr10:99051200-99052800	Active TSS	NHDF-Ad	bronchial
14	chr10:99051200-99052800	Active TSS	NHLF	lung
15	chr10:99051400-99052800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:99051400-99052800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:99051400-99052800	Active TSS	Right Atrium	heart
18	chr10:99051600-99052800	Active TSS	Brain Hippocampus Middle	brain
19	chr10:99051800-99052800	Active TSS	Brain Angular Gyrus	brain
20	chr10:99051800-99052800	Active TSS	Brain Anterior Caudate	brain
21	chr10:99051800-99052800	Active TSS	Brain Cingulate Gyrus	brain
22	chr10:99051800-99052800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:99051800-99052800	Active TSS	Brain Substantia Nigra	brain
24	chr10:99051800-99052800	Active TSS	Duodenum Mucosa	Duodenum
25	chr10:99051800-99052800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr10:99051800-99052800	Active TSS	Fetal Kidney	kidney
27	chr10:99051800-99052800	Active TSS	Rectal Smooth Muscle	rectum
28	chr10:99051800-99052800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr10:99051800-99052800	Active TSS	HMEC	breast
30	chr10:99051800-99053200	Active TSS	HepG2	liver
31	chr10:99052000-99052800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:99052000-99052800	Active TSS	Hela-S3	cervix
33	chr10:99052000-99057600	Weak transcription	Fetal Heart	heart
34	chr10:99052400-99052800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr10:99052400-99052800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr10:99052400-99052800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:99052400-99052800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr10:99052400-99052800	Enhancers	Fetal Stomach	stomach
39	chr10:99052400-99052800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr10:99052400-99052800	Enhancers	Stomach Mucosa	stomach
41	chr10:99052400-99052800	Enhancers	HSMMtube	muscle
42	chr10:99052400-99063800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:99052600-99052800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:99052600-99052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:99052600-99052800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr10:99052600-99052800	Enhancers	Primary B cells from peripheral blood	blood
47	chr10:99052600-99052800	Enhancers	Primary hematopoietic stem cells	blood
48	chr10:99052600-99052800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:99052600-99052800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr10:99052600-99052800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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