Variant report

Variant	rs750948
Chromosome Location	chr11:18286807-18286808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:18286332-18286933	HL-60	blood:	n/a	n/a
2	RUNX3	chr11:18286708-18287037	GM12878	blood:	n/a	n/a
3	RUNX3	chr11:18286686-18287032	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18286807-18286857	Caco-2	colon:	n/a
2	chr11:18286807-18286857	HIPEpiC	eye:	n/a
3	chr11:18286807-18286857	PANC-1	pancreas:	n/a
4	chr11:18286807-18286857	HCPEpiC	choroid plexus:	n/a
5	chr11:18286807-18286857	BJ	skin:	n/a
6	chr11:18286807-18286857	HNPCEpiC	eye:	n/a
7	chr11:18286807-18286857	NHDF-neo	bronchial:	n/a
8	chr11:18286807-18286857	Jurkat	blood:	n/a
9	chr11:18286807-18286857	HRCEpiC	kidney:	n/a
10	chr11:18286807-18286857	GM19239	blood:	n/a
11	chr11:18286807-18286857	HEK293	kidney:	embryo
12	chr11:18286807-18286857	GM12891	blood:	n/a
13	chr11:18286807-18286857	ovcar-3	ovarian:	n/a
14	chr11:18286807-18286857	Hela-S3	cervix:	n/a
15	chr11:18286807-18286857	CMK	blood:	n/a
16	chr11:18286807-18286857	NH-A	brain:	n/a
17	chr11:18286807-18286857	AG10803	skin:	n/a
18	chr11:18286807-18286857	GM12892	blood:	n/a
19	chr11:18286807-18286857	AoSMC	blood vessel:	n/a
20	chr11:18286807-18286857	HUVEC	blood vessel:	n/a
21	chr11:18286807-18286857	HL-60	blood:	n/a
22	chr11:18286807-18286857	AG04449	skin:	fetal
23	chr11:18286807-18286857	AG04450	lung:	fetal
24	chr11:18286807-18286857	BE2_C	brain:	n/a
25	chr11:18286807-18286857	SK-N-SH_RA	brain:	n/a
26	chr11:18286807-18286857	AG09319	gingival:	n/a
27	chr11:18286807-18286857	A549	lung:	n/a
28	chr11:18286807-18286857	HRE	kidney:	n/a
29	chr11:18286807-18286857	ECC-1	luminal epithelium:	n/a
30	chr11:18286807-18286857	MCF10A-Er-Src	breast:	n/a
31	chr11:18286807-18286857	HEEpiC	esophagus:	n/a
32	chr11:18286807-18286857	H1-hESC	embryonic stem cell:	embryo
33	chr11:18286807-18286857	NT2-D1	testis:	n/a
34	chr11:18286807-18286857	AG09309	skin:	n/a
35	chr11:18286807-18286857	GM06990	blood:	n/a
36	chr11:18286807-18286857	NB4	blood:	n/a
37	chr11:18286807-18286857	HAEpiC	amniotic membrane:	n/a
38	chr11:18286807-18286857	Hepatocyte	liver:	n/a
39	chr11:18286807-18286857	IMR90	lung:	fetal
40	chr11:18286807-18286857	MCF-7	breast:	n/a
41	chr11:18286807-18286857	NHBE	bronchial:	n/a
42	chr11:18286807-18286857	PFSK-1	brain:	n/a
43	chr11:18286807-18286857	HepG2	liver:	n/a
44	chr11:18286807-18286857	K562	blood:	n/a
45	chr11:18286807-18286857	HMEC	breast:	n/a
46	chr11:18286807-18286857	PrEC	prostate:	n/a
47	chr11:18286807-18286857	GM12878	blood:	n/a
48	chr11:18286807-18286857	SAEC	small airway:	n/a
49	chr11:18286807-18286857	RPTEC	kidney:	n/a
50	chr11:18286807-18286857	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18284620..18287566-chr11:18415998..18418094,2	K562	blood:
2	chr11:18283937..18286938-chr13:37573373..37575594,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP334	TF binding region
SAA1	TF binding region
RNA5SP334	CpG island
SAA1	CpG island
ENSG00000120697	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2124373	0.86[EUR][1000 genomes]
rs4150553	0.86[EUR][1000 genomes]
rs4150592	0.86[EUR][1000 genomes]
rs4150597	0.86[EUR][1000 genomes]
rs4150647	0.86[EUR][1000 genomes]
rs4150672	0.86[EUR][1000 genomes]
rs4150677	0.86[EUR][1000 genomes]

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	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18278400-18293200	Weak transcription	Aorta	Aorta
2	chr11:18281400-18289400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:18283600-18291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:18285200-18287800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:18285200-18289200	Weak transcription	Hela-S3	cervix
7	chr11:18285200-18291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:18285400-18300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:18285600-18289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:18285600-18308400	Weak transcription	Gastric	stomach
12	chr11:18285800-18287800	Enhancers	GM12878-XiMat	blood
13	chr11:18285800-18298800	Weak transcription	HSMMtube	muscle
14	chr11:18286200-18287600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:18286400-18287200	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:18286600-18287800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:18286600-18287800	Enhancers	HMEC	breast
18	chr11:18286600-18287800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:18286800-18287000	Enhancers	HepG2	liver
20	chr11:18286800-18287400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:18286800-18287400	Enhancers	Adipose Nuclei	Adipose
22	chr11:18286800-18287600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:18286800-18287600	Enhancers	Liver	Liver
24	chr11:18286800-18287600	Enhancers	Spleen	Spleen
25	chr11:18286800-18287800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:18286800-18287800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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