Variant report

Variant	rs7342992
Chromosome Location	chr18:8367559-8367560
allele	A/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	chr18:8367460-8367610	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr18:8367480-8367630	HPF	lung:	n/a	n/a
3	CTCF	chr18:8367440-8367590	HEK293	kidney:	n/a	n/a
4	CTCF	chr18:8367460-8367610	SAEC	small airway:	n/a	n/a
5	CTCF	chr18:8367540-8367690	Caco-2	colon:	n/a	n/a
6	TCF12	chr18:8367222-8367605	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr18:8367309-8367736	H1-hESC	embryonic stem cell:	n/a	chr18:8367593-8367602
8	ELF1	chr18:8367261-8367761	GM12878	blood:	n/a	chr18:8367516-8367525
9	ATF2	chr18:8367243-8367675	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr18:8367460-8367610	GM12875	blood:	n/a	n/a
11	CTCF	chr18:8367437-8367691	GM19240	blood:	n/a	n/a
12	CTCF	chr18:8367460-8367610	AG09309	skin:	n/a	n/a
13	CTCF	chr18:8367460-8367610	HCFaa	heart:	n/a	n/a
14	MAX	chr18:8367251-8367647	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr18:8367459-8367656	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr18:8367284-8367843	HCT-116	colon:	n/a	chr18:8367313-8367326
17	CTCF	chr18:8367520-8367670	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr18:8367460-8367610	BJ	skin:	n/a	n/a
19	CTCF	chr18:8367500-8367650	WI-38	lung:	n/a	n/a
20	RAD21	chr18:8367458-8367713	K562	blood:	n/a	n/a
21	CTCF	chr18:8367480-8367647	GM13976	blood:	n/a	n/a
22	CTCF	chr18:8367454-8367645	Lung_OC	lung:	n/a	n/a
23	CTCF	chr18:8367480-8367630	HMF	breast:	n/a	n/a
24	CTCF	chr18:8367443-8367695	GM19238	blood:	n/a	n/a
25	CTCF	chr18:8367502-8367626	A549	lung:	n/a	n/a
26	CTCF	chr18:8367520-8367670	AG10803	skin:	n/a	n/a
27	CTCF	chr18:8367500-8367650	HVMF	connective:	n/a	n/a
28	CTCF	chr18:8367520-8367670	NHLF	lung:	n/a	n/a
29	ELF1	chr18:8367357-8367638	K562	blood:	n/a	chr18:8367516-8367525
30	MAZ	chr18:8367406-8367728	K562	blood:	n/a	n/a
31	SIN3A	chr18:8367159-8367727	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr18:8367480-8367630	AG09319	gingival:	n/a	n/a
33	ZNF143	chr18:8367419-8367711	GM12878	blood:	n/a	chr18:8367691-8367709
34	CTCF	chr18:8367455-8367624	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr18:8367500-8367650	GM12869	blood:	n/a	n/a
36	CTCF	chr18:8367500-8367650	GM12870	blood:	n/a	n/a
37	CTCF	chr18:8367375-8367759	GM12878	blood:	n/a	n/a
38	CTCF	chr18:8367480-8367630	SAEC	small airway:	n/a	n/a
39	CTCF	chr18:8367500-8367650	GM12868	blood:	n/a	n/a
40	CTCF	chr18:8367480-8367630	K562	blood:	n/a	n/a
41	CTCF	chr18:8367394-8367737	IMR90	lung:	n/a	n/a
42	CTCF	chr18:8367440-8367590	GM12870	blood:	n/a	n/a
43	CTCF	chr18:8367480-8367630	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr18:8367460-8367610	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr18:8367469-8367653	Gliobla	brain:	n/a	n/a
46	CTCF	chr18:8367448-8367732	ProgFib	skin:	n/a	n/a
47	CTCF	chr18:8367520-8367670	HFF	foreskin:	n/a	n/a
48	CTCF	chr18:8367420-8367570	HL-60	blood:	n/a	n/a
49	CTCF	chr18:8367436-8367682	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr18:8367154-8367798	H1-hESC	embryonic stem cell:	n/a	chr18:8367306-8367320 chr18:8367593-8367602

Variant related genes	Relation type
PTPRM	TF binding region
ENSG00000266149	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55837035	1.00[ASN][1000 genomes]
rs6506578	0.86[ASN][1000 genomes]
rs72906464	1.00[ASN][1000 genomes]
rs72906465	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8352600-8372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:8355200-8378200	Weak transcription	Gastric	stomach
3	chr18:8358400-8378200	Weak transcription	HepG2	liver
4	chr18:8363200-8369000	Enhancers	Fetal Heart	heart
5	chr18:8364200-8375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:8365400-8378200	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:8366200-8367600	Enhancers	Lung	lung
8	chr18:8366200-8370800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:8366600-8375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:8366800-8367600	Enhancers	Spleen	Spleen
11	chr18:8366800-8367600	Bivalent/Poised TSS	NHEK	skin
12	chr18:8366800-8367800	Bivalent Enhancer	Fetal Brain Male	brain
13	chr18:8366800-8367800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr18:8367000-8367600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr18:8367000-8367600	Active TSS	Pancreas	Pancrea
16	chr18:8367000-8367600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr18:8367000-8367800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:8367000-8367800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:8367000-8368000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr18:8367000-8368000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr18:8367200-8367600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:8367200-8367600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:8367200-8367600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:8367200-8367600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr18:8367200-8367600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr18:8367200-8367600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:8367200-8367600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:8367200-8367600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr18:8367200-8367600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr18:8367200-8367600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
31	chr18:8367200-8367600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:8367200-8367600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:8367200-8367600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:8367200-8367600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:8367200-8367600	Active TSS	Brain Substantia Nigra	brain
36	chr18:8367200-8367600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr18:8367200-8367600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr18:8367200-8367600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr18:8367200-8367600	Flanking Active TSS	Left Ventricle	heart
40	chr18:8367200-8367600	Flanking Active TSS	Psoas Muscle	Psoas
41	chr18:8367200-8367600	Flanking Active TSS	Right Ventricle	heart
42	chr18:8367200-8367600	Enhancers	Small Intestine	intestine
43	chr18:8367200-8367600	Active TSS	Stomach Smooth Muscle	stomach
44	chr18:8367200-8367600	Active TSS	A549	lung
45	chr18:8367200-8367600	Enhancers	HMEC	breast
46	chr18:8367200-8367600	Bivalent/Poised TSS	HUVEC	blood vessel
47	chr18:8367200-8367600	Enhancers	NH-A	brain
48	chr18:8367200-8367600	Flanking Active TSS	Osteobl	bone
49	chr18:8367200-8367800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr18:8367200-8367800	Active TSS	H9 Cell Line	embryonic stem cell

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