Variant report

Variant	rs529697586
Chromosome Location	chr11:18727813-18727814
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18727752-18728272	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr11:18726724-18728916	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18727774-18727824	AoSMC	blood vessel:	n/a
2	chr11:18727774-18727824	CMK	blood:	n/a
3	chr11:18727774-18727824	ovcar-3	ovarian:	n/a
4	chr11:18727774-18727824	HCT-116	colon:	n/a
5	chr11:18727774-18727824	HRCEpiC	kidney:	n/a
6	chr11:18727774-18727824	SK-N-SH	brain:	n/a
7	chr11:18727774-18727824	IMR90	lung:	fetal
8	chr11:18727774-18727824	Hepatocyte	liver:	n/a
9	chr11:18727774-18727824	NT2-D1	testis:	n/a
10	chr11:18727774-18727824	GM12891	blood:	n/a
11	chr11:18727774-18727824	HUVEC	blood vessel:	n/a
12	chr11:18727774-18727824	BJ	skin:	n/a
13	chr11:18727774-18727824	HCM	heart:	n/a
14	chr11:18727774-18727824	MCF-7	breast:	n/a
15	chr11:18727774-18727824	RPTEC	kidney:	n/a
16	chr11:18727774-18727824	ProgFib	skin:	n/a
17	chr11:18727774-18727824	AG09309	skin:	n/a
18	chr11:18727774-18727824	HEK293	kidney:	embryo
19	chr11:18727774-18727824	PrEC	prostate:	n/a
20	chr11:18727774-18727824	BE2_C	brain:	n/a
21	chr11:18727774-18727824	HAEpiC	amniotic membrane:	n/a
22	chr11:18727774-18727824	HRPEpiC	eye:	n/a
23	chr11:18727774-18727824	NHBE	bronchial:	n/a
24	chr11:18727774-18727824	GM12878	blood:	n/a
25	chr11:18727774-18727824	PANC-1	pancreas:	n/a
26	chr11:18727774-18727824	Jurkat	blood:	n/a
27	chr11:18727774-18727824	AG09319	gingival:	n/a
28	chr11:18727774-18727824	HL-60	blood:	n/a
29	chr11:18727774-18727824	LNCaP	prostate:	n/a
30	chr11:18727774-18727824	MCF10A-Er-Src	breast:	n/a
31	chr11:18727774-18727824	NH-A	brain:	n/a
32	chr11:18727774-18727824	SAEC	small airway:	n/a
33	chr11:18727774-18727824	HCPEpiC	choroid plexus:	n/a
34	chr11:18727774-18727824	HNPCEpiC	eye:	n/a
35	chr11:18727774-18727824	AG04450	lung:	fetal
36	chr11:18727774-18727824	H1-hESC	embryonic stem cell:	embryo
37	chr11:18727774-18727824	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:18727774-18727824	SK-N-SH_RA	brain:	n/a
39	chr11:18727774-18727824	NHDF-neo	bronchial:	n/a
40	chr11:18727774-18727824	ECC-1	luminal epithelium:	n/a
41	chr11:18727774-18727824	HIPEpiC	eye:	n/a
42	chr11:18727774-18727824	HepG2	liver:	n/a
43	chr11:18727774-18727824	SKMC	muscle:	n/a
44	chr11:18727774-18727824	HEEpiC	esophagus:	n/a
45	chr11:18727774-18727824	HMEC	breast:	n/a
46	chr11:18727774-18727824	U87	brain:	n/a
47	chr11:18727774-18727824	Hela-S3	cervix:	n/a
48	chr11:18727774-18727824	K562	blood:	n/a
49	chr11:18727774-18727824	HRE	kidney:	n/a
50	chr11:18727774-18727824	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000254966	TF binding region
IGSF22	TF binding region
IGSF22	CpG island
ENSG00000254966	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3342768	chr11:18726926-18729124	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18726800-18728600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:18727000-18728000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr11:18727000-18728800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:18727000-18728800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:18727000-18728800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:18727000-18729000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:18727000-18729000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:18727200-18728000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
11	chr11:18727200-18728400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:18727200-18728600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:18727200-18728600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:18727200-18728600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:18727200-18728800	Active TSS	Fetal Kidney	kidney
16	chr11:18727200-18730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:18727400-18728000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:18727400-18728200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:18727400-18728200	Active TSS	Fetal Stomach	stomach
20	chr11:18727400-18728200	Bivalent/Poised TSS	HSMM	muscle
21	chr11:18727400-18728400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:18727400-18728400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:18727400-18728400	Active TSS	Aorta	Aorta
24	chr11:18727400-18728400	Active TSS	Brain Angular Gyrus	brain
25	chr11:18727400-18728600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:18727400-18728600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:18727400-18728600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:18727400-18728600	Active TSS	Fetal Intestine Large	intestine
29	chr11:18727400-18728800	Active TSS	Brain Anterior Caudate	brain
30	chr11:18727400-18729000	Active TSS	Colon Smooth Muscle	Colon
31	chr11:18727600-18728000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:18727600-18728000	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr11:18727600-18728000	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr11:18727600-18728000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:18727600-18728000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:18727600-18728000	Active TSS	Duodenum Mucosa	Duodenum
37	chr11:18727600-18728000	Enhancers	Fetal Brain Male	brain
38	chr11:18727600-18728000	Bivalent Enhancer	GM12878-XiMat	blood
39	chr11:18727600-18728200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr11:18727600-18728200	Active TSS	Brain Hippocampus Middle	brain
41	chr11:18727600-18728200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr11:18727600-18728200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr11:18727600-18728200	Active TSS	Fetal Lung	lung
44	chr11:18727600-18728200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:18727600-18728200	Active TSS	Rectal Smooth Muscle	rectum
46	chr11:18727600-18728200	Bivalent/Poised TSS	NH-A	brain
47	chr11:18727600-18728400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr11:18727600-18728400	Active TSS	Primary T cells from cord blood	blood
49	chr11:18727600-18728400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:18727600-18728400	Active TSS	Brain Cingulate Gyrus	brain

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