Variant report

Variant	rs531822878
Chromosome Location	chr11:18128182-18128183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:18128140-18128290	AG09319	gingival:	n/a	n/a
2	MXI1	chr11:18126193-18128461	SK-N-SH	brain:	n/a	n/a
3	FOSL2	chr11:18128141-18128715	SK-N-SH	brain:	n/a	chr11:18128439-18128449 chr11:18128441-18128448 chr11:18128438-18128450 chr11:18128440-18128448 chr11:18128440-18128449
4	CTCF	chr11:18128180-18128330	GM12872	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18128177-18128227	LNCaP	prostate:	n/a
2	chr11:18128177-18128227	CMK	blood:	n/a
3	chr11:18128177-18128227	K562	blood:	n/a
4	chr11:18128177-18128227	PrEC	prostate:	n/a
5	chr11:18128177-18128227	SK-N-SH	brain:	n/a
6	chr11:18128177-18128227	MCF-7	breast:	n/a
7	chr11:18128177-18128227	HAEpiC	amniotic membrane:	n/a
8	chr11:18128177-18128227	Caco-2	colon:	n/a
9	chr11:18128177-18128227	AG09319	gingival:	n/a
10	chr11:18128177-18128227	AG04449	skin:	fetal
11	chr11:18128177-18128227	NHBE	bronchial:	n/a
12	chr11:18128177-18128227	GM12891	blood:	n/a
13	chr11:18128177-18128227	GM12878	blood:	n/a
14	chr11:18128177-18128227	ovcar-3	ovarian:	n/a
15	chr11:18128177-18128227	U87	brain:	n/a
16	chr11:18128177-18128227	SKMC	muscle:	n/a
17	chr11:18128177-18128227	HL-60	blood:	n/a
18	chr11:18128177-18128227	Hela-S3	cervix:	n/a
19	chr11:18128177-18128227	HCM	heart:	n/a
20	chr11:18128177-18128227	NH-A	brain:	n/a
21	chr11:18128177-18128227	ECC-1	luminal epithelium:	n/a
22	chr11:18128177-18128227	AG04450	lung:	fetal
23	chr11:18128177-18128227	PANC-1	pancreas:	n/a
24	chr11:18128177-18128227	HCF	heart:	n/a
25	chr11:18128177-18128227	BE2_C	brain:	n/a
26	chr11:18128177-18128227	HEK293	kidney:	embryo
27	chr11:18128177-18128227	AG09309	skin:	n/a
28	chr11:18128177-18128227	RPTEC	kidney:	n/a
29	chr11:18128177-18128227	HCT-116	colon:	n/a
30	chr11:18128177-18128227	HCPEpiC	choroid plexus:	n/a
31	chr11:18128177-18128227	HMEC	breast:	n/a
32	chr11:18128177-18128227	NB4	blood:	n/a
33	chr11:18128177-18128227	HRPEpiC	eye:	n/a
34	chr11:18128177-18128227	PFSK-1	brain:	n/a
35	chr11:18128177-18128227	HRCEpiC	kidney:	n/a
36	chr11:18128177-18128227	GM06990	blood:	n/a
37	chr11:18128177-18128227	HNPCEpiC	eye:	n/a
38	chr11:18128177-18128227	HRE	kidney:	n/a
39	chr11:18128177-18128227	SK-N-MC	brain:	n/a
40	chr11:18128177-18128227	SAEC	small airway:	n/a
41	chr11:18128177-18128227	AG10803	skin:	n/a
42	chr11:18128177-18128227	IMR90	lung:	fetal
43	chr11:18128177-18128227	NT2-D1	testis:	n/a
44	chr11:18128177-18128227	Hepatocyte	liver:	n/a
45	chr11:18128177-18128227	A549	lung:	n/a
46	chr11:18128177-18128227	NHDF-neo	bronchial:	n/a
47	chr11:18128177-18128227	ProgFib	skin:	n/a
48	chr11:18128177-18128227	MCF10A-Er-Src	breast:	n/a
49	chr11:18128177-18128227	Jurkat	blood:	n/a
50	chr11:18128177-18128227	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRGPRX3-1	chr11:18128130-18128388	NONHSAT018261

No data

Variant related genes	Relation type
SAAL1	TF binding region
SAAL1	CpG island
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv983174	chr11:18127720-18135636	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18126000-18128200	Active TSS	A549	lung
2	chr11:18126400-18128200	Active TSS	Ovary	ovary
3	chr11:18126400-18128200	Active TSS	NHDF-Ad	bronchial
4	chr11:18126600-18128200	Active TSS	Brain Angular Gyrus	brain
5	chr11:18126600-18128200	Active TSS	Fetal Brain Female	brain
6	chr11:18126600-18128200	Active TSS	Psoas Muscle	Psoas
7	chr11:18126600-18128400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:18126600-18128400	Active TSS	Fetal Brain Male	brain
9	chr11:18126800-18128200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:18126800-18128200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:18126800-18128200	Active TSS	Brain Cingulate Gyrus	brain
12	chr11:18126800-18128200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:18126800-18128200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:18126800-18128200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:18126800-18128200	Active TSS	HSMMtube	muscle
16	chr11:18126800-18128400	Active TSS	Stomach Smooth Muscle	stomach
17	chr11:18127000-18128400	Active TSS	Brain Anterior Caudate	brain
18	chr11:18127200-18128200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:18127600-18128200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:18127600-18128200	Enhancers	Fetal Heart	heart
21	chr11:18127600-18128200	Flanking Active TSS	NHEK	skin
22	chr11:18127600-18128400	Enhancers	Small Intestine	intestine
23	chr11:18127800-18128200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:18127800-18128200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:18127800-18128200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:18127800-18128200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr11:18127800-18128200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:18127800-18128200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:18127800-18128200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr11:18127800-18128200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr11:18127800-18128200	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr11:18127800-18128200	Active TSS	Right Atrium	heart
33	chr11:18127800-18128200	Enhancers	Stomach Mucosa	stomach
34	chr11:18127800-18128200	Flanking Active TSS	Dnd41	blood
35	chr11:18127800-18128200	Flanking Active TSS	Hela-S3	cervix
36	chr11:18127800-18128200	Flanking Active TSS	HepG2	liver
37	chr11:18127800-18128400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:18127800-18128400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:18127800-18128400	Enhancers	Gastric	stomach
40	chr11:18128000-18128200	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:18128000-18128200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr11:18128000-18128200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:18128000-18128200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:18128000-18128200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:18128000-18128200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18128000-18128200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:18128000-18128200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:18128000-18128200	Enhancers	Fetal Muscle Leg	muscle
49	chr11:18128000-18128200	Enhancers	Left Ventricle	heart
50	chr11:18128000-18128200	Enhancers	Pancreas	Pancrea

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