Variant report

Variant	rs16933661
Chromosome Location	chr11:16904845-16904846
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	CTCF	chr11:16904840-16904990	SAEC	small airway:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
2	CTCF	chr11:16904666-16905112	K562	blood:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
3	POLR2A	chr11:16904651-16905118	SK-N-MC	brain:	n/a	n/a
4	CTCF	chr11:16904800-16905081	MCF-7	breast:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
5	CTCF	chr11:16904788-16905065	K562	blood:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
6	RAD21	chr11:16904575-16905298	HCT-116	colon:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
7	CTCF	chr11:16904823-16905047	MCF-7	breast:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
8	RAD21	chr11:16904796-16905033	SK-N-SH_RA	brain:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
9	RAD21	chr11:16904724-16905091	SK-N-SH_RA	brain:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
10	CTCF	chr11:16904800-16904950	NHEK	skin:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
11	FOXP2	chr11:16904695-16905091	SK-N-MC	brain:	n/a	n/a
12	GATA3	chr11:16904640-16905070	T-47D	breast:	n/a	chr11:16904811-16904821
13	CTCF	chr11:16904820-16904970	Caco-2	colon:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
14	MYC	chr11:16904839-16905102	K562	blood:	n/a	n/a
15	ELF1	chr11:16904832-16905140	K562	blood:	n/a	chr11:16904956-16904967
16	EP300	chr11:16904829-16905159	K562	blood:	n/a	chr11:16904878-16904887
17	FOS	chr11:16904689-16904988	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr11:16904780-16904930	HRE	kidney:	n/a	chr11:16904908-16904921 chr11:16904908-16904917
19	FOS	chr11:16904652-16904998	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr11:16904828-16905149	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT3	chr11:16904733-16904974	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr11:16904820-16904970	A549	lung:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
23	CTCF	chr11:16904840-16904990	HMEC	breast:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
24	FOS	chr11:16904680-16904992	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr11:16904840-16905035	MCF-7	breast:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
26	CTCF	chr11:16904740-16904890	HMF	breast:	n/a	n/a
27	CTCF	chr11:16904789-16905018	HepG2	liver:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
28	CTCFL	chr11:16904823-16905020	K562	blood:	n/a	n/a
29	MYC	chr11:16904643-16905054	MCF10A-Er-Src	breast:	n/a	n/a
30	TAL1	chr11:16904843-16905188	K562	blood:	n/a	n/a
31	CTCF	chr11:16904740-16904890	GM12867	blood:	n/a	n/a
32	CTCF	chr11:16904840-16904990	GM12872	blood:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
33	CTCF	chr11:16904840-16904990	NHDF-neo	bronchial:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
34	STAT3	chr11:16904684-16905018	MCF10A-Er-Src	breast:	n/a	n/a
35	SMC3	chr11:16904758-16905111	K562	blood:	n/a	chr11:16904907-16904921 chr11:16904930-16904944
36	CTCF	chr11:16904760-16904910	HCT-116	colon:	n/a	n/a
37	SMC3	chr11:16904803-16905009	Hela-S3	cervix:	n/a	chr11:16904907-16904921 chr11:16904930-16904944
38	RAD21	chr11:16904822-16905171	H1-hESC	embryonic stem cell:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
39	RAD21	chr11:16904631-16905173	MCF-7	breast:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
40	CTCF	chr11:16904823-16905066	NHEK	skin:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
41	RAD21	chr11:16904795-16905029	HepG2	liver:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
42	CTCF	chr11:16904760-16904910	GM06990	blood:	n/a	n/a
43	CTCF	chr11:16904780-16904930	RPTEC	kidney:	n/a	chr11:16904908-16904921 chr11:16904908-16904917
44	CTCF	chr11:16904744-16905122	K562	blood:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944
45	RAD21	chr11:16904768-16905079	H1-hESC	embryonic stem cell:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
46	MAX	chr11:16904790-16905129	K562	blood:	n/a	n/a
47	RAD21	chr11:16904725-16905178	ECC-1	luminal epithelium:	n/a	chr11:16904926-16904945 chr11:16904907-16904921
48	CBX3	chr11:16904386-16905217	HCT-116	colon:	n/a	n/a
49	SMC3	chr11:16904820-16905061	HepG2	liver:	n/a	chr11:16904907-16904921 chr11:16904930-16904944
50	CTCF	chr11:16904820-16904970	HUVEC	blood vessel:	n/a	chr11:16904908-16904921 chr11:16904928-16904946 chr11:16904908-16904917 chr11:16904923-16904944

No.	Distal block	Cell Line	Cell type
1	chr11:16841547..16842503-chr11:16904428..16905369,3	MCF-7	breast:
2	chr11:16809870..16810603-chr11:16904407..16905228,4	MCF-7	breast:
3	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:
4	chr11:16841535..16842310-chr11:16904321..16905209,2	K562	blood:

Variant related genes	Relation type
PLEKHA7	TF binding region
ENSG00000110700	Chromatin interaction
ENSG00000201403	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11024078	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11024091	1.00[EUR][1000 genomes]
rs11024092	1.00[EUR][1000 genomes]
rs12275536	1.00[EUR][1000 genomes]
rs12276960	1.00[EUR][1000 genomes]
rs12278736	1.00[EUR][1000 genomes]
rs12278828	1.00[EUR][1000 genomes]
rs12280548	1.00[EUR][1000 genomes]
rs12292955	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16933508	1.00[EUR][1000 genomes]
rs16933515	1.00[EUR][1000 genomes]
rs16933529	1.00[EUR][1000 genomes]
rs16933548	1.00[EUR][1000 genomes]
rs16933592	1.00[EUR][1000 genomes]
rs2190751	1.00[EUR][1000 genomes]
rs4379815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4448668	0.94[AFR][1000 genomes]
rs56918856	1.00[EUR][1000 genomes]
rs57289260	1.00[EUR][1000 genomes]
rs57818898	1.00[EUR][1000 genomes]
rs58540437	1.00[EUR][1000 genomes]
rs60553604	1.00[EUR][1000 genomes]
rs60977991	1.00[EUR][1000 genomes]
rs61129651	1.00[EUR][1000 genomes]
rs61217675	1.00[EUR][1000 genomes]
rs61475718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486314	1.00[EUR][1000 genomes]
rs6486315	1.00[EUR][1000 genomes]
rs6486316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102075	1.00[EUR][1000 genomes]
rs7102357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7103382	1.00[EUR][1000 genomes]
rs7117859	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7119994	1.00[EUR][1000 genomes]
rs7122601	1.00[EUR][1000 genomes]
rs7129494	1.00[EUR][1000 genomes]
rs73423200	1.00[EUR][1000 genomes]
rs73425209	1.00[EUR][1000 genomes]
rs73425215	1.00[EUR][1000 genomes]
rs73425221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73425302	1.00[EUR][1000 genomes]
rs73427252	1.00[EUR][1000 genomes]
rs73427255	1.00[EUR][1000 genomes]
rs73427263	1.00[EUR][1000 genomes]
rs7927866	1.00[EUR][1000 genomes]
rs7935333	1.00[EUR][1000 genomes]
rs7944088	1.00[EUR][1000 genomes]
rs7946609	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16898400-16908400	Weak transcription	HepG2	liver
2	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
3	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:16902000-16905800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:16902600-16905200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:16903200-16905200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:16903200-16908800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:16903400-16905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:16903400-16905000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:16903400-16905200	Enhancers	NHEK	skin
12	chr11:16903400-16906400	Enhancers	HMEC	breast
13	chr11:16903600-16905000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:16903600-16908800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:16903600-16914400	Weak transcription	Right Atrium	heart
16	chr11:16904200-16905600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:16904200-16906600	Enhancers	Fetal Heart	heart
18	chr11:16904400-16905400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:16904600-16905000	Enhancers	Placenta	Placenta
20	chr11:16904600-16905000	Enhancers	Left Ventricle	heart
21	chr11:16904600-16905000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:16904600-16905200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:16904600-16905200	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:16904600-16905200	Enhancers	Esophagus	oesophagus
25	chr11:16904600-16905200	Enhancers	Gastric	stomach
26	chr11:16904600-16905200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:16904600-16905200	Enhancers	Right Ventricle	heart
28	chr11:16904600-16905200	Enhancers	HUVEC	blood vessel
29	chr11:16904600-16905400	Enhancers	Adipose Nuclei	Adipose
30	chr11:16904600-16905400	Enhancers	K562	blood
31	chr11:16904600-16905800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:16904800-16905000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:16904800-16905200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:16904800-16905200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:16904800-16905200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:16904800-16905200	Enhancers	Pancreas	Pancrea
37	chr11:16904800-16905200	Enhancers	Spleen	Spleen
38	chr11:16904800-16905400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:16904800-16905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:16904800-16905400	Enhancers	Fetal Lung	lung

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