Variant report

Variant	rs72903352
Chromosome Location	chr18:44337870-44337871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:44337449-44338015	H1-neurons	neurons:	n/a	n/a
2	JUND	chr18:44337854-44338226	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr18:44337475-44338191	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr18:44337378-44338151	H1-neurons	neurons:	n/a	n/a
5	CTBP2	chr18:44337460-44338259	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44337853-44337903	AoSMC	blood vessel:	n/a
2	chr18:44337853-44337903	SKMC	muscle:	n/a
3	chr18:44337853-44337903	MCF10A-Er-Src	breast:	n/a
4	chr18:44337853-44337903	NH-A	brain:	n/a
5	chr18:44337853-44337903	NT2-D1	testis:	n/a
6	chr18:44337853-44337903	ProgFib	skin:	n/a
7	chr18:44337853-44337903	GM06990	blood:	n/a
8	chr18:44337853-44337903	SK-N-MC	brain:	n/a
9	chr18:44337853-44337903	HRE	kidney:	n/a
10	chr18:44337853-44337903	Hela-S3	cervix:	n/a
11	chr18:44337853-44337903	HL-60	blood:	n/a
12	chr18:44337853-44337903	NB4	blood:	n/a
13	chr18:44337853-44337903	HCT-116	colon:	n/a
14	chr18:44337853-44337903	AG09319	gingival:	n/a
15	chr18:44337853-44337903	CMK	blood:	n/a
16	chr18:44337853-44337903	HUVEC	blood vessel:	n/a
17	chr18:44337853-44337903	GM19239	blood:	n/a
18	chr18:44337853-44337903	K562	blood:	n/a
19	chr18:44337853-44337903	A549	lung:	n/a
20	chr18:44337853-44337903	Jurkat	blood:	n/a
21	chr18:44337853-44337903	HepG2	liver:	n/a
22	chr18:44337853-44337903	IMR90	lung:	fetal
23	chr18:44337853-44337903	SK-N-SH	brain:	n/a
24	chr18:44337853-44337903	HEK293	kidney:	embryo
25	chr18:44337853-44337903	GM12892	blood:	n/a
26	chr18:44337853-44337903	RPTEC	kidney:	n/a
27	chr18:44337853-44337903	PANC-1	pancreas:	n/a
28	chr18:44337853-44337903	NHDF-neo	bronchial:	n/a
29	chr18:44337853-44337903	SAEC	small airway:	n/a
30	chr18:44337853-44337903	SK-N-SH_RA	brain:	n/a
31	chr18:44337853-44337903	PrEC	prostate:	n/a
32	chr18:44337853-44337903	HCF	heart:	n/a
33	chr18:44337853-44337903	ECC-1	luminal epithelium:	n/a
34	chr18:44337853-44337903	Hepatocyte	liver:	n/a
35	chr18:44337853-44337903	T-47D	breast:	n/a
36	chr18:44337853-44337903	H1-hESC	embryonic stem cell:	embryo
37	chr18:44337853-44337903	HEEpiC	esophagus:	n/a
38	chr18:44337853-44337903	GM12891	blood:	n/a
39	chr18:44337853-44337903	LNCaP	prostate:	n/a
40	chr18:44337853-44337903	GM12878	blood:	n/a
41	chr18:44337853-44337903	AG10803	skin:	n/a
42	chr18:44337853-44337903	MCF-7	breast:	n/a
43	chr18:44337853-44337903	BE2_C	brain:	n/a
44	chr18:44337853-44337903	HCM	heart:	n/a
45	chr18:44337853-44337903	HIPEpiC	eye:	n/a
46	chr18:44337853-44337903	AG09309	skin:	n/a
47	chr18:44337853-44337903	HAEpiC	amniotic membrane:	n/a
48	chr18:44337853-44337903	ovcar-3	ovarian:	n/a
49	chr18:44337853-44337903	HPAEpiC	pulmonary alveolar:	n/a
50	chr18:44337853-44337903	U87	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL2-1	chr18:44337689-44338426	NONHSAT059140

No data

Variant related genes	Relation type
ST8SIA5	TF binding region
ST8SIA5	CpG island

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs55633240	1.00[AFR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes]
rs55929919	1.00[AFR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56010507	1.00[AFR][1000 genomes]
rs56050035	1.00[AFR][1000 genomes]
rs56138442	1.00[AFR][1000 genomes]
rs56142565	1.00[AFR][1000 genomes]
rs56148866	1.00[AFR][1000 genomes]
rs56163470	1.00[AFR][1000 genomes]
rs56169983	1.00[AFR][1000 genomes]
rs56236054	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61743415	1.00[AFR][1000 genomes]
rs61743594	1.00[AFR][1000 genomes]
rs72903388	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72903391	1.00[AFR][1000 genomes]
rs72905218	1.00[AFR][1000 genomes]
rs72905234	1.00[AFR][1000 genomes]
rs72905239	1.00[AFR][1000 genomes]
rs72905257	1.00[AFR][1000 genomes]
rs72905263	1.00[AFR][1000 genomes]
rs72905266	1.00[AFR][1000 genomes]
rs72905286	1.00[AFR][1000 genomes]
rs72905296	1.00[AFR][1000 genomes]
rs72905301	1.00[AFR][1000 genomes]
rs72907120	1.00[AFR][1000 genomes]
rs72907122	1.00[AFR][1000 genomes]
rs72907137	1.00[AFR][1000 genomes]
rs72907140	1.00[AFR][1000 genomes]
rs72907146	1.00[AFR][1000 genomes]
rs72907148	1.00[AFR][1000 genomes]
rs72907151	1.00[AFR][1000 genomes]
rs72907152	1.00[AFR][1000 genomes]
rs72907162	1.00[AFR][1000 genomes]
rs72907165	1.00[AFR][1000 genomes]
rs72907174	1.00[AFR][1000 genomes]
rs72909104	1.00[AFR][1000 genomes]
rs72909181	1.00[AFR][1000 genomes]
rs72909200	1.00[AFR][1000 genomes]
rs72911116	1.00[AFR][1000 genomes]
rs72911123	1.00[AFR][1000 genomes]
rs72913049	1.00[AFR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes]
rs72913087	1.00[AFR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes]
rs72917122	1.00[AFR][1000 genomes]
rs72917167	1.00[AFR][1000 genomes]
rs72917200	1.00[AFR][1000 genomes]
rs72917202	1.00[AFR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes]
rs72919221	1.00[AFR][1000 genomes]
rs72919226	1.00[AFR][1000 genomes]
rs72919229	1.00[AFR][1000 genomes]
rs72919238	1.00[AFR][1000 genomes]
rs72919241	1.00[AFR][1000 genomes]
rs72919260	1.00[AFR][1000 genomes]
rs72919265	1.00[AFR][1000 genomes]
rs72919273	1.00[AFR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes]
rs72919290	1.00[AFR][1000 genomes]
rs72919296	1.00[AFR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes]
rs72921305	1.00[AFR][1000 genomes]
rs72921319	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv909604	chr18:44300281-44370518	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	esv3361656	chr18:44335579-44338127	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv909608	chr18:44335724-44422661	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
20	esv3418813	chr18:44337754-44339752	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44334400-44338000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr18:44334400-44338400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:44335200-44338200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:44335400-44338200	Active TSS	HSMM	muscle
5	chr18:44335400-44338200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr18:44335600-44338000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:44335600-44338000	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr18:44335600-44338200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:44335600-44338200	Active TSS	Brain Cingulate Gyrus	brain
10	chr18:44335800-44338000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr18:44335800-44338000	Active TSS	Psoas Muscle	Psoas
12	chr18:44335800-44338200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr18:44335800-44338200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr18:44335800-44338400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr18:44335800-44338400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr18:44335800-44338400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr18:44336000-44338000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr18:44336000-44338000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr18:44336000-44338000	Active TSS	Left Ventricle	heart
20	chr18:44336000-44338200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr18:44336000-44338400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr18:44336200-44338200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:44336200-44338200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:44336200-44338200	Bivalent Enhancer	Lung	lung
25	chr18:44336200-44338200	Enhancers	Pancreas	Pancrea
26	chr18:44336200-44338200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr18:44336200-44338200	Bivalent Enhancer	Spleen	Spleen
28	chr18:44336400-44338200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:44336600-44338000	Bivalent/Poised TSS	Thymus	Thymus
30	chr18:44336600-44338200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:44336800-44338000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:44336800-44338200	Bivalent/Poised TSS	A549	lung
33	chr18:44337000-44338000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:44337000-44338000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr18:44337000-44338200	Bivalent Enhancer	Placenta	Placenta
36	chr18:44337000-44338400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr18:44337200-44338200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:44337400-44338000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:44337400-44338000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
40	chr18:44337400-44338000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr18:44337400-44338000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
42	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr18:44337400-44338200	Active TSS	Aorta	Aorta
47	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr18:44337400-44338200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr18:44337600-44338000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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