Variant report

Variant	rs538766462
Chromosome Location	chr11:8955802-8955803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:8955544-8955827	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr11:8955449-8955805	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:8955364-8955868	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr11:8955375-8955985	HCT-116	colon:	n/a	n/a
5	CTCF	chr11:8955660-8955810	K562	blood:	n/a	n/a
6	RAD21	chr11:8955425-8955931	HCT-116	colon:	n/a	n/a
7	CTCF	chr11:8955720-8955870	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr11:8955720-8955870	HCT-116	colon:	n/a	n/a
9	RAD21	chr11:8955485-8955859	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:8955660-8955810	HCM	heart:	n/a	n/a
11	CTCF	chr11:8955525-8955875	K562	blood:	n/a	n/a
12	CUX1	chr11:8955522-8955867	K562	blood:	n/a	n/a
13	CTCF	chr11:8955499-8955847	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:8955720-8955870	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8955484..8958608-chr11:8984431..8986354,3	K562	blood:

No data

Variant related genes	Relation type
C11orf16	TF binding region
ENSG00000254860	Chromatin interaction
ENSG00000175348	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv8787	chr11:8954949-8959098	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8941200-8956200	Weak transcription	K562	blood
2	chr11:8942400-8959000	Weak transcription	Fetal Kidney	kidney
3	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:8944200-8956400	Weak transcription	HUVEC	blood vessel
5	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:8944800-8956400	Weak transcription	Fetal Intestine Large	intestine
7	chr11:8945000-8956200	Weak transcription	NH-A	brain
8	chr11:8945200-8956200	Weak transcription	A549	lung
9	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:8946400-8956200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:8947000-8968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
13	chr11:8947200-8956400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:8947400-8956200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:8947400-8969000	Weak transcription	Thymus	Thymus
16	chr11:8947600-8956200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:8947600-8956400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:8947600-8969000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:8948200-8969000	Weak transcription	Fetal Brain Female	brain
20	chr11:8948600-8969200	Weak transcription	Gastric	stomach
21	chr11:8948600-8969200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:8951000-8956200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:8951200-8956200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:8951200-8974400	Weak transcription	HepG2	liver
25	chr11:8952600-8956200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:8952600-8957200	Weak transcription	Spleen	Spleen
27	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:8952800-8956200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:8952800-8956200	Weak transcription	HSMM	muscle
30	chr11:8952800-8956200	Weak transcription	Osteobl	bone
31	chr11:8952800-8968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:8953000-8956200	Weak transcription	NHDF-Ad	bronchial
33	chr11:8953000-8956400	Weak transcription	HSMMtube	muscle
34	chr11:8954000-8956400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:8954200-8956000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:8954600-8956600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:8954800-8956200	Enhancers	Hela-S3	cervix
39	chr11:8954800-8956400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:8954800-8956400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:8955000-8956200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:8955000-8956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:8955200-8956200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:8955200-8956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:8955200-8956400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:8955200-8956600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:8955200-8956800	Weak transcription	Fetal Thymus	thymus
48	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:8955400-8956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:8955400-8956400	Weak transcription	Placenta	Placenta

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