Variant report

Variant	nsv458017
Chromosome Location	chr18:7689201-7747873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr18:7711514-7711726	GM12878	blood:	n/a	n/a
2	CEBPB	chr18:7743361-7743507	H1-hESC	embryonic stem cell:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
3	CEBPB	chr18:7743286-7743615	A549	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
4	CEBPB	chr18:7743284-7743614	IMR90	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
5	CEBPB	chr18:7739650-7739958	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr18:7720451-7720715	A549	lung:	n/a	chr18:7720560-7720571
7	CEBPB	chr18:7739664-7739958	K562	blood:	n/a	n/a
8	CEBPB	chr18:7720440-7720726	HepG2	liver:	n/a	chr18:7720560-7720571
9	CEBPB	chr18:7743291-7743630	HepG2	liver:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
10	CEBPB	chr18:7739658-7739936	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr18:7743291-7743549	Hela-S3	cervix:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
12	CHD2	chr18:7711550-7711723	GM12878	blood:	n/a	n/a
13	CTCF	chr18:7723200-7723350	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr18:7735380-7735530	HCM	heart:	n/a	n/a
15	CTCF	chr18:7735320-7735470	BJ	skin:	n/a	n/a
16	CTCF	chr18:7735340-7735490	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr18:7735320-7735470	RPTEC	kidney:	n/a	n/a
18	CTCF	chr18:7735300-7735450	AG04449	skin:	n/a	n/a
19	CTCF	chr18:7735340-7735490	HCFaa	heart:	n/a	n/a
20	CTCF	chr18:7722980-7723130	RPTEC	kidney:	n/a	n/a
21	CTCF	chr18:7735306-7735491	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:7707508-7707584	Fibrobl	skin:	n/a	n/a
23	CTCF	chr18:7735300-7735450	HMF	breast:	n/a	n/a
24	CTCF	chr18:7735420-7735570	HCM	heart:	n/a	n/a
25	CTCF	chr18:7735280-7735430	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr18:7735340-7735490	HMEC	breast:	n/a	n/a
27	CTCF	chr18:7735420-7735570	HAc	cerebellar:	n/a	n/a
28	CTCF	chr18:7723020-7723170	A549	lung:	n/a	n/a
29	CTCF	chr18:7735300-7735447	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr18:7735293-7735408	Lung_OC	lung:	n/a	n/a
31	CTCF	chr18:7735320-7735470	HVMF	connective:	n/a	n/a
32	CTCF	chr18:7735280-7735430	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr18:7735240-7735390	A549	lung:	n/a	n/a
34	CTCF	chr18:7735340-7735490	GM12872	blood:	n/a	n/a
35	CTCF	chr18:7735300-7735450	NHLF	lung:	n/a	n/a
36	CTCF	chr18:7735340-7735490	HMF	breast:	n/a	n/a
37	CTCF	chr18:7735320-7735470	GM12864	blood:	n/a	n/a
38	CTCF	chr18:7735287-7735513	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr18:7735200-7735470	GM12878	blood:	n/a	n/a
40	CTCF	chr18:7735580-7735730	SAEC	small airway:	n/a	n/a
41	CTCF	chr18:7735340-7735490	AG09309	skin:	n/a	n/a
42	CTCF	chr18:7735352-7735412	GM10266	blood:	n/a	n/a
43	CTCF	chr18:7735298-7735459	Fibrobl	skin:	n/a	n/a
44	CTCF	chr18:7723640-7723790	HEK293	kidney:	n/a	n/a
45	CTCF	chr18:7735400-7735550	BE2_C	brain:	n/a	n/a
46	CTCF	chr18:7735345-7735347	MCF-7	breast:	n/a	n/a
47	CTCF	chr18:7718325-7718452	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr18:7723240-7723390	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr18:7735320-7735470	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr18:7735241-7735526	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:7717669-7717719	SAEC	small airway:	n/a
2	chr18:7717669-7717719	BE2_C	brain:	n/a
3	chr18:7717669-7717719	HRCEpiC	kidney:	n/a
4	chr18:7717669-7717719	SK-N-SH	brain:	n/a
5	chr18:7717669-7717719	HCM	heart:	n/a
6	chr18:7717669-7717719	SK-N-SH_RA	brain:	n/a
7	chr18:7717669-7717719	Hela-S3	cervix:	n/a
8	chr18:7717669-7717719	T-47D	breast:	n/a
9	chr18:7717669-7717719	MCF10A-Er-Src	breast:	n/a
10	chr18:7717669-7717719	HEEpiC	esophagus:	n/a
11	chr18:7717669-7717719	ProgFib	skin:	n/a
12	chr18:7717669-7717719	PFSK-1	brain:	n/a
13	chr18:7717669-7717719	AG09319	gingival:	n/a
14	chr18:7717669-7717719	AG09309	skin:	n/a
15	chr18:7717669-7717719	RPTEC	kidney:	n/a
16	chr18:7717669-7717719	HRE	kidney:	n/a
17	chr18:7717669-7717719	GM19239	blood:	n/a
18	chr18:7717669-7717719	HEK293	kidney:	embryo
19	chr18:7717669-7717719	PrEC	prostate:	n/a
20	chr18:7717669-7717719	AoSMC	blood vessel:	n/a
21	chr18:7717669-7717719	Jurkat	blood:	n/a
22	chr18:7717669-7717719	Caco-2	colon:	n/a
23	chr18:7717669-7717719	AG10803	skin:	n/a
24	chr18:7717669-7717719	HNPCEpiC	eye:	n/a
25	chr18:7717669-7717719	GM12892	blood:	n/a
26	chr18:7717669-7717719	GM06990	blood:	n/a
27	chr18:7717669-7717719	NHDF-neo	bronchial:	n/a
28	chr18:7717669-7717719	HMEC	breast:	n/a
29	chr18:7717669-7717719	NT2-D1	testis:	n/a
30	chr18:7717669-7717719	NHBE	bronchial:	n/a
31	chr18:7717669-7717719	HPAEpiC	pulmonary alveolar:	n/a
32	chr18:7717669-7717719	HCT-116	colon:	n/a
33	chr18:7717669-7717719	GM12878	blood:	n/a
34	chr18:7717669-7717719	HAEpiC	amniotic membrane:	n/a
35	chr18:7717669-7717719	HCPEpiC	choroid plexus:	n/a
36	chr18:7717669-7717719	NB4	blood:	n/a
37	chr18:7717669-7717719	NH-A	brain:	n/a
38	chr18:7717669-7717719	LNCaP	prostate:	n/a
39	chr18:7717669-7717719	SKMC	muscle:	n/a
40	chr18:7717669-7717719	ECC-1	luminal epithelium:	n/a
41	chr18:7717669-7717719	IMR90	lung:	fetal
42	chr18:7717669-7717719	HL-60	blood:	n/a
43	chr18:7717669-7717719	U87	brain:	n/a
44	chr18:7717669-7717719	HUVEC	blood vessel:	n/a
45	chr18:7717669-7717719	PANC-1	pancreas:	n/a
46	chr18:7717669-7717719	GM12891	blood:	n/a
47	chr18:7717669-7717719	A549	lung:	n/a
48	chr18:7717669-7717719	HRPEpiC	eye:	n/a
49	chr18:7717669-7717719	HepG2	liver:	n/a
50	chr18:7717669-7717719	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7684763..7686884-chr18:7689927..7692256,2	K562	blood:
2	chr18:7745866..7749831-chr18:7752461..7755443,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMA1-5	chr18:7747531-7747656	ENSG00000266767.1
2	lnc-LAMA1-5	chr18:7741308-7741979	ENSG00000266767.1
3	lnc-LAMA1-5	chr18:7740621-7741979	NONHSAT057159

No data

Variant related genes	Relation type
ENSG00000221631	TF binding region
ENSG00000221631	CpG island
ENSG00000173482	chromatin interactions
ENSG00000266767	chromatin interactions

Extended variants
information (count: 2199 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4121619	chr18:7689201-7689202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144981770	chr18:7689233-7689234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543028818	chr18:7689293-7689294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115658260	chr18:7689305-7689306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532031801	chr18:7689318-7689319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138902051	chr18:7689319-7689320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568774545	chr18:7689325-7689326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4277420	chr18:7689332-7689333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543608829	chr18:7689367-7689368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9966932	chr18:7689368-7689369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539952401	chr18:7689387-7689388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116660641	chr18:7689401-7689402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561036462	chr18:7689402-7689403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535457630	chr18:7689457-7689458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16952368	chr18:7689485-7689486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529994970	chr18:7689493-7689494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4480882	chr18:7689496-7689497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540839921	chr18:7689540-7689541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4328523	chr18:7689541-7689542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532111928	chr18:7689543-7689544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577648537	chr18:7689651-7689652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543543020	chr18:7689770-7689771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140597385	chr18:7689834-7689835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573633806	chr18:7689850-7689851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188036265	chr18:7689916-7689917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551869590	chr18:7689931-7689932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542125891	chr18:7689936-7689937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191965338	chr18:7689983-7689984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150463260	chr18:7689988-7689989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556410383	chr18:7690003-7690004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547657308	chr18:7690010-7690011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7236295	chr18:7690016-7690017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs533260583	chr18:7690044-7690045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546322370	chr18:7690095-7690096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564424844	chr18:7690138-7690139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11661251	chr18:7690163-7690164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79201564	chr18:7690181-7690182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569822240	chr18:7690210-7690211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535422437	chr18:7690217-7690218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138256374	chr18:7690285-7690286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534130846	chr18:7690297-7690298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547927361	chr18:7690310-7690311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373085978	chr18:7690336-7690337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567905359	chr18:7690356-7690357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10163760	chr18:7690372-7690373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117279104	chr18:7690547-7690548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149644331	chr18:7690570-7690571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184172017	chr18:7690592-7690593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557181281	chr18:7690639-7690640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144369248	chr18:7690654-7690655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7683200-7696600	Weak transcription	Fetal Lung	lung
2	chr18:7684200-7693800	Weak transcription	Lung	lung
3	chr18:7684200-7696600	Weak transcription	Right Atrium	heart
4	chr18:7684200-7712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:7685200-7694000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:7686000-7689400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:7686200-7691400	Weak transcription	Right Ventricle	heart
8	chr18:7688200-7689600	Enhancers	Left Ventricle	heart
9	chr18:7688200-7689800	Enhancers	Psoas Muscle	Psoas
10	chr18:7688800-7689400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:7688800-7689400	Weak transcription	Small Intestine	intestine
12	chr18:7688800-7698000	Weak transcription	Aorta	Aorta
13	chr18:7689000-7691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:7689200-7689400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:7689200-7689800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:7689400-7689600	Enhancers	Small Intestine	intestine
17	chr18:7689400-7690200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:7689400-7693800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:7689600-7690200	Weak transcription	Small Intestine	intestine
20	chr18:7689600-7693000	Weak transcription	Left Ventricle	heart
21	chr18:7689800-7690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:7689800-7690200	Weak transcription	Psoas Muscle	Psoas
23	chr18:7690200-7690400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:7690200-7690400	Enhancers	Psoas Muscle	Psoas
25	chr18:7690200-7690400	Enhancers	Small Intestine	intestine
26	chr18:7690400-7693000	Weak transcription	Psoas Muscle	Psoas
27	chr18:7690400-7696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:7691200-7695800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:7691400-7691800	Enhancers	Right Ventricle	heart
30	chr18:7691800-7697600	Weak transcription	Right Ventricle	heart
31	chr18:7692600-7693000	Enhancers	NH-A	brain
32	chr18:7693000-7693200	Enhancers	Left Ventricle	heart
33	chr18:7693000-7694200	Enhancers	Psoas Muscle	Psoas
34	chr18:7693200-7693600	Weak transcription	Left Ventricle	heart
35	chr18:7693600-7694200	Enhancers	Left Ventricle	heart
36	chr18:7693800-7694200	Enhancers	Lung	lung
37	chr18:7693800-7694400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr18:7694000-7694200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr18:7694200-7695000	Weak transcription	Left Ventricle	heart
40	chr18:7694200-7695000	Weak transcription	Lung	lung
41	chr18:7694200-7699000	Weak transcription	Psoas Muscle	Psoas
42	chr18:7694400-7696800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:7695000-7695200	Enhancers	Lung	lung
44	chr18:7695000-7695600	Enhancers	Left Ventricle	heart
45	chr18:7695600-7698200	Weak transcription	Left Ventricle	heart
46	chr18:7695800-7697000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:7696600-7696800	Enhancers	Right Atrium	heart
48	chr18:7696600-7697000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:7696600-7697000	Enhancers	NHDF-Ad	bronchial
50	chr18:7696600-7697200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

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