Variant report

Variant	rs543960853
Chromosome Location	chr11:18128242-18128243
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	chr11:18128140-18128290	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
5	FOS	chr11:18128229-18128658	MCF10A-Er-Src	breast:	n/a	chr11:18128439-18128449 chr11:18128441-18128448 chr11:18128438-18128450 chr11:18128438-18128449 chr11:18128440-18128448 chr11:18128440-18128449
6	FOS	chr11:18128227-18128626	MCF10A-Er-Src	breast:	n/a	chr11:18128439-18128449 chr11:18128441-18128448 chr11:18128438-18128450 chr11:18128438-18128449 chr11:18128440-18128448 chr11:18128440-18128449
7	CTCF	chr11:18128200-18128350	GM12873	blood:	n/a	n/a

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

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

Variant related genes	Relation type
SAAL1	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000110756	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18126600-18128400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:18126600-18128400	Active TSS	Fetal Brain Male	brain
3	chr11:18126800-18128400	Active TSS	Stomach Smooth Muscle	stomach
4	chr11:18127000-18128400	Active TSS	Brain Anterior Caudate	brain
5	chr11:18127600-18128400	Enhancers	Small Intestine	intestine
6	chr11:18127800-18128400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:18127800-18128400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:18127800-18128400	Enhancers	Gastric	stomach
9	chr11:18128000-18128400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:18128000-18128400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:18128000-18128400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:18128000-18128400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:18128000-18128400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:18128000-18128400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:18128000-18128400	Enhancers	Brain Substantia Nigra	brain
16	chr11:18128000-18128400	Enhancers	HUVEC	blood vessel
17	chr11:18128000-18128400	Enhancers	NHLF	lung
18	chr11:18128000-18128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:18128000-18128600	Enhancers	HMEC	breast
20	chr11:18128000-18128600	Enhancers	NH-A	brain
21	chr11:18128000-18128800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:18128000-18128800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:18128000-18129000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:18128000-18129000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:18128200-18128400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:18128200-18128400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:18128200-18128400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:18128200-18128400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:18128200-18128400	Enhancers	Brain Angular Gyrus	brain
30	chr11:18128200-18128400	Active TSS	Brain Hippocampus Middle	brain
31	chr11:18128200-18128400	Active TSS	Colon Smooth Muscle	Colon
32	chr11:18128200-18128400	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:18128200-18128400	Flanking Active TSS	A549	lung
34	chr11:18128200-18128400	Enhancers	HSMMtube	muscle
35	chr11:18128200-18128400	Enhancers	NHDF-Ad	bronchial
36	chr11:18128200-18128600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:18128200-18128600	Enhancers	HepG2	liver
38	chr11:18128200-18128600	Enhancers	NHEK	skin
39	chr11:18128200-18128800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:18128200-18128800	Weak transcription	Right Atrium	heart
41	chr11:18128200-18128800	Enhancers	Hela-S3	cervix

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