Variant report

Variant	nsv470406
Chromosome Location	chr18:7700462-7747873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

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	chr18:7720451-7720715	A549	lung:	n/a	chr18:7720560-7720571
3	CEBPB	chr18:7743291-7743549	Hela-S3	cervix:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
4	CEBPB	chr18:7743291-7743630	HepG2	liver:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
5	CEBPB	chr18:7739664-7739958	K562	blood:	n/a	n/a
6	CEBPB	chr18:7739658-7739936	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr18:7743284-7743614	IMR90	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
8	CEBPB	chr18:7743286-7743615	A549	lung:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
9	CEBPB	chr18:7743361-7743507	H1-hESC	embryonic stem cell:	n/a	chr18:7743467-7743478 chr18:7743455-7743466 chr18:7743456-7743467
10	CEBPB	chr18:7720440-7720726	HepG2	liver:	n/a	chr18:7720560-7720571
11	CEBPB	chr18:7739650-7739958	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr18:7711550-7711723	GM12878	blood:	n/a	n/a
13	CTCF	chr18:7735320-7735470	RPTEC	kidney:	n/a	n/a
14	CTCF	chr18:7735320-7735470	BJ	skin:	n/a	n/a
15	CTCF	chr18:7735345-7735347	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:7735280-7735430	SAEC	small airway:	n/a	n/a
17	CTCF	chr18:7735339-7735462	HepG2	liver:	n/a	n/a
18	CTCF	chr18:7735360-7735510	GM06990	blood:	n/a	n/a
19	CTCF	chr18:7735320-7735470	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr18:7735280-7735430	GM12869	blood:	n/a	n/a
21	CTCF	chr18:7735281-7735501	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:7735300-7735450	AG04449	skin:	n/a	n/a
23	CTCF	chr18:7735320-7735470	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr18:7723020-7723170	Caco-2	colon:	n/a	n/a
25	CTCF	chr18:7735340-7735431	MCF-7	breast:	n/a	n/a
26	CTCF	chr18:7735300-7735450	Caco-2	colon:	n/a	n/a
27	CTCF	chr18:7723100-7723250	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr18:7735340-7735490	HPF	lung:	n/a	n/a
29	CTCF	chr18:7735360-7735510	NB4	blood:	n/a	n/a
30	CTCF	chr18:7735360-7735510	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr18:7735360-7735510	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr18:7735340-7735490	HMF	breast:	n/a	n/a
33	CTCF	chr18:7735300-7735450	AG09309	skin:	n/a	n/a
34	CTCF	chr18:7723140-7723290	RPTEC	kidney:	n/a	n/a
35	CTCF	chr18:7735280-7735430	AG04449	skin:	n/a	n/a
36	CTCF	chr18:7735300-7735450	HCT-116	colon:	n/a	n/a
37	CTCF	chr18:7735340-7735490	AG09309	skin:	n/a	n/a
38	CTCF	chr18:7735200-7735470	GM12878	blood:	n/a	n/a
39	CTCF	chr18:7735340-7735490	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr18:7735300-7735450	BJ	skin:	n/a	n/a
41	CTCF	chr18:7735580-7735730	SAEC	small airway:	n/a	n/a
42	CTCF	chr18:7723640-7723790	HEK293	kidney:	n/a	n/a
43	CTCF	chr18:7735320-7735481	HepG2	liver:	n/a	n/a
44	CTCF	chr18:7735281-7735494	Gliobla	brain:	n/a	n/a
45	CTCF	chr18:7735320-7735470	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr18:7735300-7735450	HMF	breast:	n/a	n/a
47	CTCF	chr18:7735280-7735430	MCF-7	breast:	n/a	n/a
48	CTCF	chr18:7735380-7735530	GM12864	blood:	n/a	n/a
49	CTCF	chr18:7735380-7735530	HFF	foreskin:	n/a	n/a
50	CTCF	chr18:7734960-7735110	Caco-2	colon:	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	HRPEpiC	eye:	n/a
2	chr18:7717669-7717719	U87	brain:	n/a
3	chr18:7717669-7717719	NH-A	brain:	n/a
4	chr18:7717669-7717719	GM06990	blood:	n/a
5	chr18:7717669-7717719	Jurkat	blood:	n/a
6	chr18:7717669-7717719	BJ	skin:	n/a
7	chr18:7717669-7717719	HepG2	liver:	n/a
8	chr18:7717669-7717719	AG10803	skin:	n/a
9	chr18:7717669-7717719	HRCEpiC	kidney:	n/a
10	chr18:7717669-7717719	K562	blood:	n/a
11	chr18:7717669-7717719	HRE	kidney:	n/a
12	chr18:7717669-7717719	RPTEC	kidney:	n/a
13	chr18:7717669-7717719	PANC-1	pancreas:	n/a
14	chr18:7717669-7717719	HIPEpiC	eye:	n/a
15	chr18:7717669-7717719	HCPEpiC	choroid plexus:	n/a
16	chr18:7717669-7717719	HPAEpiC	pulmonary alveolar:	n/a
17	chr18:7717669-7717719	MCF10A-Er-Src	breast:	n/a
18	chr18:7717669-7717719	SAEC	small airway:	n/a
19	chr18:7717669-7717719	ProgFib	skin:	n/a
20	chr18:7717669-7717719	HAEpiC	amniotic membrane:	n/a
21	chr18:7717669-7717719	Hela-S3	cervix:	n/a
22	chr18:7717669-7717719	IMR90	lung:	fetal
23	chr18:7717669-7717719	HCM	heart:	n/a
24	chr18:7717669-7717719	T-47D	breast:	n/a
25	chr18:7717669-7717719	SK-N-MC	brain:	n/a
26	chr18:7717669-7717719	HUVEC	blood vessel:	n/a
27	chr18:7717669-7717719	MCF-7	breast:	n/a
28	chr18:7717669-7717719	NB4	blood:	n/a
29	chr18:7717669-7717719	NHDF-neo	bronchial:	n/a
30	chr18:7717669-7717719	PFSK-1	brain:	n/a
31	chr18:7717669-7717719	HEK293	kidney:	embryo
32	chr18:7717669-7717719	A549	lung:	n/a
33	chr18:7717669-7717719	AG04449	skin:	fetal
34	chr18:7717669-7717719	PrEC	prostate:	n/a
35	chr18:7717669-7717719	LNCaP	prostate:	n/a
36	chr18:7717669-7717719	AoSMC	blood vessel:	n/a
37	chr18:7717669-7717719	GM12878	blood:	n/a
38	chr18:7717669-7717719	HCF	heart:	n/a
39	chr18:7717669-7717719	HCT-116	colon:	n/a
40	chr18:7717669-7717719	ovcar-3	ovarian:	n/a
41	chr18:7717669-7717719	SKMC	muscle:	n/a
42	chr18:7717669-7717719	HL-60	blood:	n/a
43	chr18:7717669-7717719	GM12891	blood:	n/a
44	chr18:7717669-7717719	SK-N-SH_RA	brain:	n/a
45	chr18:7717669-7717719	HNPCEpiC	eye:	n/a
46	chr18:7717669-7717719	ECC-1	luminal epithelium:	n/a
47	chr18:7717669-7717719	Caco-2	colon:	n/a
48	chr18:7717669-7717719	GM12892	blood:	n/a
49	chr18:7717669-7717719	AG04450	lung:	fetal
50	chr18:7717669-7717719	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 1772 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1772 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7244983	chr18:7700462-7700463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111306417	chr18:7700496-7700497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145548743	chr18:7700549-7700550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57132386	chr18:7700617-7700618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371150908	chr18:7700675-7700676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7230428	chr18:7700680-7700681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374483949	chr18:7700683-7700684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369495297	chr18:7700703-7700704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8098343	chr18:7700711-7700712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544311109	chr18:7700730-7700731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564139643	chr18:7700746-7700747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567843110	chr18:7700764-7700765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532777168	chr18:7700777-7700778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149213743	chr18:7700791-7700792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181345539	chr18:7700805-7700806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12326124	chr18:7700821-7700822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143459260	chr18:7700829-7700830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111496551	chr18:7700876-7700877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559056039	chr18:7700895-7700896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140784707	chr18:7700902-7700903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183549711	chr18:7700906-7700907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564518516	chr18:7700933-7700934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372683853	chr18:7700973-7700974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150363846	chr18:7700990-7700991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112568550	chr18:7700991-7700992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78850965	chr18:7700992-7700993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57368338	chr18:7700994-7700995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12955725	chr18:7700996-7700997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373132888	chr18:7701010-7701011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188283175	chr18:7701032-7701033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534143534	chr18:7701068-7701069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180904342	chr18:7701074-7701075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576589227	chr18:7701099-7701100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144636381	chr18:7701100-7701101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562217367	chr18:7701118-7701119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576117025	chr18:7701170-7701171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368629210	chr18:7701179-7701180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138673668	chr18:7701187-7701188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530328521	chr18:7701237-7701238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547362019	chr18:7701268-7701269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372041033	chr18:7701312-7701313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375071832	chr18:7701412-7701413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560754221	chr18:7701413-7701414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187260539	chr18:7701428-7701429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552778728	chr18:7701450-7701451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555182409	chr18:7701454-7701455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569269476	chr18:7701458-7701459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191977278	chr18:7701459-7701460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113965693	chr18:7701467-7701468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548296787	chr18:7701468-7701469	Weak transcription	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:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7684200-7712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:7698200-7706800	Weak transcription	Fetal Heart	heart
3	chr18:7699200-7706400	Weak transcription	Psoas Muscle	Psoas
4	chr18:7702600-7703000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:7703400-7711600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:7705800-7710200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:7706200-7706600	Enhancers	Left Ventricle	heart
8	chr18:7706400-7706600	Enhancers	Psoas Muscle	Psoas
9	chr18:7706600-7707400	Weak transcription	Psoas Muscle	Psoas
10	chr18:7706600-7711600	Weak transcription	Left Ventricle	heart
11	chr18:7706800-7707400	Enhancers	Fetal Heart	heart
12	chr18:7707200-7708800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:7707400-7707600	Enhancers	Aorta	Aorta
14	chr18:7707400-7707600	Enhancers	Psoas Muscle	Psoas
15	chr18:7708400-7708600	Enhancers	Aorta	Aorta
16	chr18:7708400-7708600	Enhancers	Rectal Smooth Muscle	rectum
17	chr18:7708800-7711600	Weak transcription	Right Ventricle	heart
18	chr18:7711200-7712000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:7711200-7712200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:7711600-7712000	Enhancers	Right Ventricle	heart
21	chr18:7711600-7712200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:7711600-7712200	Enhancers	Left Ventricle	heart
23	chr18:7712200-7717200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:7712200-7717600	Weak transcription	Left Ventricle	heart
25	chr18:7712200-7723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:7717200-7717400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:7717400-7718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:7717600-7717800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:7717600-7718000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:7717600-7718000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr18:7717600-7718000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:7717600-7718000	Enhancers	Left Ventricle	heart
33	chr18:7717600-7718000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr18:7717800-7723400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:7717800-7723400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:7718000-7722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:7718000-7723000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr18:7718000-7723400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:7718000-7723400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:7718000-7723400	Weak transcription	Left Ventricle	heart
41	chr18:7720600-7720800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:7720600-7720800	Enhancers	Psoas Muscle	Psoas
43	chr18:7720600-7721000	Enhancers	Fetal Heart	heart
44	chr18:7720800-7721600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:7720800-7723400	Weak transcription	Psoas Muscle	Psoas
46	chr18:7721000-7722800	Weak transcription	Fetal Heart	heart
47	chr18:7721400-7722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:7721600-7724000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:7721800-7723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:7722000-7723000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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