Variant report

Variant	rs186603708
Chromosome Location	chr18:14748163-14748164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14748149-14748185	Fibrobl	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14748128-14748178	HL-60	blood:	n/a
2	chr18:14748128-14748178	HPAEpiC	pulmonary alveolar:	n/a
3	chr18:14748128-14748178	GM12878	blood:	n/a
4	chr18:14748128-14748178	AG10803	skin:	n/a
5	chr18:14748128-14748178	PANC-1	pancreas:	n/a
6	chr18:14748128-14748178	IMR90	lung:	fetal
7	chr18:14748128-14748178	HAEpiC	amniotic membrane:	n/a
8	chr18:14748128-14748178	HUVEC	blood vessel:	n/a
9	chr18:14748128-14748178	T-47D	breast:	n/a
10	chr18:14748128-14748178	A549	lung:	n/a
11	chr18:14748128-14748178	AG09309	skin:	n/a
12	chr18:14748128-14748178	SK-N-SH_RA	brain:	n/a
13	chr18:14748128-14748178	GM19239	blood:	n/a
14	chr18:14748128-14748178	BJ	skin:	n/a
15	chr18:14748128-14748178	GM12892	blood:	n/a
16	chr18:14748128-14748178	LNCaP	prostate:	n/a
17	chr18:14748128-14748178	NH-A	brain:	n/a
18	chr18:14748128-14748178	Hepatocyte	liver:	n/a
19	chr18:14748128-14748178	ovcar-3	ovarian:	n/a
20	chr18:14748128-14748178	HRPEpiC	eye:	n/a
21	chr18:14748128-14748178	HRCEpiC	kidney:	n/a
22	chr18:14748128-14748178	HRE	kidney:	n/a
23	chr18:14748128-14748178	SAEC	small airway:	n/a
24	chr18:14748128-14748178	ECC-1	luminal epithelium:	n/a
25	chr18:14748128-14748178	PrEC	prostate:	n/a
26	chr18:14748128-14748178	Caco-2	colon:	n/a
27	chr18:14748128-14748178	HIPEpiC	eye:	n/a
28	chr18:14748128-14748178	Hela-S3	cervix:	n/a
29	chr18:14748128-14748178	RPTEC	kidney:	n/a
30	chr18:14748128-14748178	HCT-116	colon:	n/a
31	chr18:14748128-14748178	ProgFib	skin:	n/a
32	chr18:14748128-14748178	SK-N-MC	brain:	n/a
33	chr18:14748128-14748178	H1-hESC	embryonic stem cell:	embryo
34	chr18:14748128-14748178	CMK	blood:	n/a
35	chr18:14748128-14748178	AG09319	gingival:	n/a
36	chr18:14748128-14748178	HCPEpiC	choroid plexus:	n/a
37	chr18:14748128-14748178	HNPCEpiC	eye:	n/a
38	chr18:14748128-14748178	SK-N-SH	brain:	n/a
39	chr18:14748128-14748178	PFSK-1	brain:	n/a
40	chr18:14748128-14748178	NHDF-neo	bronchial:	n/a
41	chr18:14748128-14748178	HEK293	kidney:	embryo
42	chr18:14748128-14748178	HEEpiC	esophagus:	n/a
43	chr18:14748128-14748178	SKMC	muscle:	n/a
44	chr18:14748128-14748178	NB4	blood:	n/a
45	chr18:14748128-14748178	NHBE	bronchial:	n/a
46	chr18:14748128-14748178	AG04449	skin:	fetal
47	chr18:14748128-14748178	HCF	heart:	n/a
48	chr18:14748128-14748178	NT2-D1	testis:	n/a
49	chr18:14748128-14748178	AoSMC	blood vessel:	n/a
50	chr18:14748128-14748178	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
ANKRD30B	TF binding region
ANKRD30B	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431972	chr18:13804043-14753900	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv428006	chr18:14087067-14874733	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909431	chr18:14524300-14751049	Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv909433	chr18:14711974-14797570	Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2421993	chr18:14722006-14758540	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1061152	chr18:14726146-14753435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv9617	chr18:14736667-14748499	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	esv2756821	chr18:14741611-14865985	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv960263	chr18:14747929-14767039	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14747400-14748200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr18:14747400-14748400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr18:14747400-14748600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:14747400-14748800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr18:14747400-14748800	ZNF genes & repeats	Pancreas	Pancrea
6	chr18:14747400-14749000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr18:14747600-14748200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr18:14747600-14748200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr18:14747600-14748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:14747600-14748200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr18:14747600-14748400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:14747600-14748400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr18:14747600-14748400	ZNF genes & repeats	Gastric	stomach
14	chr18:14747600-14748600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr18:14747600-14748600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr18:14747600-14748600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr18:14747600-14748600	Active TSS	Brain Angular Gyrus	brain
18	chr18:14747600-14748600	Active TSS	Brain Anterior Caudate	brain
19	chr18:14747600-14748600	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr18:14747600-14748600	ZNF genes & repeats	Fetal Brain Female	brain
21	chr18:14747600-14748800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr18:14747600-14748800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:14747600-14748800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:14747800-14748400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr18:14747800-14748600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:14747800-14748600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:14747800-14748600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr18:14747800-14748600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr18:14747800-14748800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr18:14748000-14748200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:14748000-14748200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr18:14748000-14748200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:14748000-14748200	Bivalent Enhancer	Left Ventricle	heart
34	chr18:14748000-14748400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:14748000-14748400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr18:14748000-14749000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:14748000-14749200	Active TSS	Osteobl	bone

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