Variant report

Variant	rs58355571
Chromosome Location	chr11:58869836-58869837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:308)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:58869704-58870162	GM12878	blood:	n/a	n/a
2	CTCF	chr11:58869760-58869910	HL-60	blood:	n/a	n/a
3	EP300	chr11:58869704-58870240	GM12878	blood:	n/a	n/a
4	MYC	chr11:58869778-58869920	MCF-7	breast:	n/a	n/a
5	E2F6	chr11:58869764-58869992	K562	blood:	n/a	chr11:58869905-58869912
6	NFIC	chr11:58869495-58870352	GM12878	blood:	n/a	n/a
7	CTCF	chr11:58869760-58869910	GM12872	blood:	n/a	n/a
8	CTCF	chr11:58869760-58869910	AG04450	lung:	n/a	n/a
9	SP1	chr11:58869627-58870085	H1-hESC	embryonic stem cell:	n/a	chr11:58869831-58869842 chr11:58869995-58870002 chr11:58869832-58869841 chr11:58869684-58869694
10	TCF12	chr11:58869595-58870257	GM12878	blood:	n/a	n/a
11	CREB1	chr11:58869755-58870106	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr11:58869709-58870094	GM12891	blood:	n/a	chr11:58869942-58869953
13	CTCF	chr11:58869740-58869890	HCM	heart:	n/a	n/a
14	ZEB1	chr11:58869793-58870062	GM12878	blood:	n/a	n/a
15	JUND	chr11:58869736-58869993	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBL1XR1	chr11:58869737-58870190	GM12878	blood:	n/a	n/a
17	CTCF	chr11:58869740-58869890	HAc	cerebellar:	n/a	n/a
18	TAF1	chr11:58869343-58870036	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:58869742-58869981	K562	blood:	n/a	n/a
20	BCLAF1	chr11:58869623-58870275	GM12878	blood:	n/a	n/a
21	CTCF	chr11:58869740-58869890	WI-38	lung:	n/a	n/a
22	CTCF	chr11:58869760-58869910	GM12869	blood:	n/a	n/a
23	CEBPB	chr11:58869168-58870341	GM12878	blood:	n/a	n/a
24	CTCF	chr11:58869780-58869930	AG09309	skin:	n/a	n/a
25	CTCF	chr11:58869820-58869970	GM12868	blood:	n/a	n/a
26	CTCF	chr11:58869699-58870039	A549	lung:	n/a	n/a
27	POLR2A	chr11:58869615-58870245	GM18505	blood:	n/a	n/a
28	ELF1	chr11:58869640-58870195	GM12878	blood:	n/a	n/a
29	CTCF	chr11:58869760-58869910	HEEpiC	esophagus:	n/a	n/a
30	ELF1	chr11:58869777-58870085	K562	blood:	n/a	n/a
31	BHLHE40	chr11:58869799-58869950	K562	blood:	n/a	n/a
32	MAZ	chr11:58869665-58870039	K562	blood:	n/a	n/a
33	CTCF	chr11:58869664-58869982	T-47D	breast:	n/a	n/a
34	RAD21	chr11:58869765-58870155	A549	lung:	n/a	n/a
35	SPI1	chr11:58869709-58870227	GM12878	blood:	n/a	n/a
36	CTCF	chr11:58869780-58869930	GM12865	blood:	n/a	n/a
37	CTCF	chr11:58869709-58870033	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:58869760-58869910	SAEC	small airway:	n/a	n/a
39	CTCF	chr11:58869780-58869930	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr11:58869780-58869930	HA-sp	spinal cord:	n/a	n/a
41	NFATC1	chr11:58869676-58870227	GM12878	blood:	n/a	n/a
42	CTCF	chr11:58869780-58869930	AG04450	lung:	n/a	n/a
43	POLR2A	chr11:58869551-58869885	H1-hESC	embryonic stem cell:	n/a	n/a
44	TBP	chr11:58869662-58870038	H1-hESC	embryonic stem cell:	n/a	n/a
45	POU2F2	chr11:58869692-58870321	GM12878	blood:	n/a	n/a
46	ELK1	chr11:58869652-58870081	GM12878	blood:	n/a	n/a
47	NFATC1	chr11:58869496-58870142	GM12878	blood:	n/a	n/a
48	E2F6	chr11:58869695-58870095	A549	lung:	n/a	chr11:58869699-58869716 chr11:58869905-58869912
49	POLR2A	chr11:58869569-58870269	GM12878	blood:	n/a	n/a
50	CTCF	chr11:58869644-58870217	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58869823-58869873	HRCEpiC	kidney:	n/a
2	chr11:58869823-58869873	NB4	blood:	n/a
3	chr11:58869823-58869873	AG10803	skin:	n/a
4	chr11:58869823-58869873	RPTEC	kidney:	n/a
5	chr11:58869823-58869873	AoSMC	blood vessel:	n/a
6	chr11:58869823-58869873	HEK293	kidney:	embryo
7	chr11:58869823-58869873	SAEC	small airway:	n/a
8	chr11:58869823-58869873	HRPEpiC	eye:	n/a
9	chr11:58869823-58869873	SKMC	muscle:	n/a
10	chr11:58869823-58869873	PANC-1	pancreas:	n/a
11	chr11:58869823-58869873	ovcar-3	ovarian:	n/a
12	chr11:58869823-58869873	AG04450	lung:	fetal
13	chr11:58869823-58869873	NHDF-neo	bronchial:	n/a
14	chr11:58869823-58869873	NHBE	bronchial:	n/a
15	chr11:58869823-58869873	HIPEpiC	eye:	n/a
16	chr11:58869823-58869873	BJ	skin:	n/a
17	chr11:58869823-58869873	ProgFib	skin:	n/a
18	chr11:58869823-58869873	GM19239	blood:	n/a
19	chr11:58869823-58869873	A549	lung:	n/a
20	chr11:58869823-58869873	HCF	heart:	n/a
21	chr11:58869823-58869873	GM12891	blood:	n/a
22	chr11:58869823-58869873	U87	brain:	n/a
23	chr11:58869823-58869873	H1-hESC	embryonic stem cell:	embryo
24	chr11:58869823-58869873	HepG2	liver:	n/a
25	chr11:58869823-58869873	HEEpiC	esophagus:	n/a
26	chr11:58869823-58869873	K562	blood:	n/a
27	chr11:58869823-58869873	PFSK-1	brain:	n/a
28	chr11:58869823-58869873	HAEpiC	amniotic membrane:	n/a
29	chr11:58869823-58869873	T-47D	breast:	n/a
30	chr11:58869823-58869873	IMR90	lung:	fetal
31	chr11:58869823-58869873	HRE	kidney:	n/a
32	chr11:58869823-58869873	Hela-S3	cervix:	n/a
33	chr11:58869823-58869873	MCF10A-Er-Src	breast:	n/a
34	chr11:58869823-58869873	HL-60	blood:	n/a
35	chr11:58869823-58869873	GM06990	blood:	n/a
36	chr11:58869823-58869873	GM12892	blood:	n/a
37	chr11:58869823-58869873	SK-N-SH_RA	brain:	n/a
38	chr11:58869823-58869873	Hepatocyte	liver:	n/a
39	chr11:58869823-58869873	SK-N-MC	brain:	n/a
40	chr11:58869823-58869873	BE2_C	brain:	n/a
41	chr11:58869823-58869873	AG04449	skin:	fetal
42	chr11:58869823-58869873	HUVEC	blood vessel:	n/a
43	chr11:58869823-58869873	AG09309	skin:	n/a
44	chr11:58869823-58869873	ECC-1	luminal epithelium:	n/a
45	chr11:58869823-58869873	PrEC	prostate:	n/a
46	chr11:58869823-58869873	HNPCEpiC	eye:	n/a
47	chr11:58869823-58869873	MCF-7	breast:	n/a
48	chr11:58869823-58869873	NT2-D1	testis:	n/a
49	chr11:58869823-58869873	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:58869823-58869873	HCM	heart:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58869769..58871706-chr11:58872515..58874019,2	MCF-7	breast:
2	chr11:58869192..58871421-chr11:58911598..58913836,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM111B	TF binding region
FAM111B	CpG island
ENSG00000166801	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2096585	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2844343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519287	1.00[AMR][1000 genomes]
rs56963795	1.00[AMR][1000 genomes]
rs58024146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58599185	1.00[AMR][1000 genomes]
rs60845282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61149043	1.00[AMR][1000 genomes]
rs61178453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476916	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476938	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476939	1.00[AMR][1000 genomes]
rs73483019	1.00[AMR][1000 genomes]
rs73483100	1.00[AMR][1000 genomes]
rs73485212	1.00[AMR][1000 genomes]
rs73485235	1.00[AMR][1000 genomes]
rs73487315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491319	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491327	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv3393019	chr11:58679419-58880845	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv428258	chr11:58700092-58878839	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv832171	chr11:58725930-58878839	Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv469559	chr11:58730785-58887639	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv482906	chr11:58730785-58887639	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv471671	chr11:58730786-58887639	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2757447	chr11:58746238-58906018	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv975329	chr11:58767290-58907813	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv468578	chr11:58790628-58901763	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv555147	chr11:58790628-58901763	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1043956	chr11:58818144-58882570	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58867000-58870000	Active TSS	GM12878-XiMat	blood
2	chr11:58868000-58870000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:58868200-58873800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:58868400-58870200	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr11:58869000-58870000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:58869000-58870200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:58869000-58870200	Active TSS	Fetal Brain Female	brain
8	chr11:58869200-58870000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:58869200-58870000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:58869200-58870000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:58869200-58870000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:58869200-58870000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr11:58869200-58870000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr11:58869200-58870000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr11:58869200-58870000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr11:58869200-58870000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:58869200-58870000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:58869200-58870000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:58869200-58870000	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr11:58869200-58870000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:58869200-58870000	Active TSS	Right Atrium	heart
22	chr11:58869200-58870000	Active TSS	Osteobl	bone
23	chr11:58869200-58870200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:58869200-58870200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:58869200-58870200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:58869200-58870200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:58869200-58870200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:58869200-58870200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:58869200-58870200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:58869200-58870200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:58869200-58870200	Enhancers	Liver	Liver
32	chr11:58869200-58870200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:58869200-58870200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr11:58869200-58870200	Active TSS	NHLF	lung
35	chr11:58869400-58870000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:58869400-58870000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:58869400-58870000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:58869400-58870000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:58869400-58870000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr11:58869400-58870000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:58869400-58870000	Enhancers	Colonic Mucosa	Colon
42	chr11:58869400-58870000	Active TSS	Esophagus	oesophagus
43	chr11:58869400-58870000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:58869400-58870000	Bivalent Enhancer	Placenta	Placenta
45	chr11:58869400-58870000	Flanking Active TSS	Fetal Thymus	thymus
46	chr11:58869400-58870000	Active TSS	Right Ventricle	heart
47	chr11:58869400-58870000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:58869400-58870200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:58869400-58870200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:58869400-58870200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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