Variant report

Variant	rs16933380
Chromosome Location	chr11:16761410-16761411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:16759189-16762064	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:16759508-16761432	HUVEC	blood vessel:	n/a	n/a
3	WRNIP1	chr11:16759449-16761494	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:16759099-16762017	K562	blood:	n/a	n/a
5	POLR2A	chr11:16758966-16761509	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:16759113-16762148	GM12878	blood:	n/a	n/a
7	HCFC1	chr11:16759016-16761619	Hela-S3	cervix:	n/a	n/a
8	SREBP1	chr11:16759183-16761709	GM12878	blood:	n/a	n/a
9	REST	chr11:16759087-16761652	H1-neurons	neurons:	n/a	chr11:16760921-16760941 chr11:16760921-16760941
10	POLR2A	chr11:16759183-16762100	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:16759127-16762273	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:16761311-16761823	GM12878	blood:	n/a	n/a
13	BRCA1	chr11:16759150-16761517	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:16759102-16761882	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:16759357-16762072	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:16759028-16762227	GM12891	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16634578..16636953-chr11:16760027..16762559,3	K562	blood:
2	chr11:16759801..16761698-chr11:16777281..16779265,2	K562	blood:
3	chr11:16759049..16761712-chr11:16777478..16779237,2	MCF-7	breast:
4	chr11:16759176..16761906-chr11:17098692..17100616,2	MCF-7	breast:
5	chr11:16761361..16764357-chr11:16767480..16769884,3	MCF-7	breast:
6	chr11:16759714..16761562-chr11:17097936..17099803,2	K562	blood:
7	chr11:16760740..16762840-chr11:16767428..16769739,2	MCF-7	breast:
8	chr11:16759714..16762827-chr11:17097720..17101099,4	K562	blood:

No data

Variant related genes	Relation type
C11orf58	TF binding region
SOX6	TF binding region
ENSG00000110700	Chromatin interaction
ENSG00000110696	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16933351	0.90[AFR][1000 genomes]
rs16933361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933370	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2047697	0.95[AFR][1000 genomes]
rs7942039	1.00[AMR][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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:16759200-16761600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:16759200-16761600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:16759200-16761600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:16759200-16761600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:16759200-16761600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:16759200-16761600	Active TSS	A549	lung
7	chr11:16759200-16761600	Active TSS	K562	blood
8	chr11:16759200-16761800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:16759200-16761800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:16759200-16761800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:16759200-16761800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:16759200-16761800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:16759200-16761800	Active TSS	HSMMtube	muscle
14	chr11:16759200-16762000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:16759200-16762000	Active TSS	Fetal Kidney	kidney
16	chr11:16759200-16762000	Active TSS	Right Ventricle	heart
17	chr11:16759200-16762200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:16759200-16762200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:16759200-16762200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:16759200-16762200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:16759200-16762800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:16759200-16763200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:16759400-16761600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:16759400-16761600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:16759400-16761600	Active TSS	Fetal Heart	heart
26	chr11:16759400-16761600	Active TSS	Left Ventricle	heart
27	chr11:16759400-16761600	Active TSS	GM12878-XiMat	blood
28	chr11:16759400-16761600	Active TSS	HSMM	muscle
29	chr11:16759400-16761600	Active TSS	NHDF-Ad	bronchial
30	chr11:16759400-16761800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:16759400-16761800	Active TSS	Aorta	Aorta
32	chr11:16759400-16761800	Active TSS	Fetal Intestine Large	intestine
33	chr11:16759400-16761800	Active TSS	Fetal Intestine Small	intestine
34	chr11:16759400-16761800	Active TSS	Fetal Muscle Trunk	muscle
35	chr11:16759400-16761800	Active TSS	Placenta	Placenta
36	chr11:16759400-16761800	Active TSS	Ovary	ovary
37	chr11:16759400-16761800	Active TSS	NHLF	lung
38	chr11:16759400-16762000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:16759400-16762000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:16759400-16762200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:16759600-16761600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:16759600-16761600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:16759600-16761600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:16759600-16761600	Active TSS	Lung	lung
45	chr11:16759600-16761600	Active TSS	Stomach Mucosa	stomach
46	chr11:16759600-16761800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:16759600-16761800	Active TSS	HMEC	breast
48	chr11:16760200-16762200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr11:16760400-16761800	Active TSS	Right Atrium	heart
50	chr11:16760600-16761600	Active TSS	Skeletal Muscle Female	skeletal muscle

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