Variant report

Variant	nsv458021
Chromosome Location	chr18:8193657-8227344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr18:8200317-8200426	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr18:8212997-8213184	K562	blood:	n/a	n/a
3	BHLHE40	chr18:8204186-8204237	GM12878	blood:	n/a	n/a
4	BRCA1	chr18:8212913-8213482	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr18:8216995-8217334	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr18:8222869-8223097	A549	lung:	n/a	n/a
7	CEBPB	chr18:8214668-8214748	HepG2	liver:	n/a	chr18:8214717-8214728
8	CEBPB	chr18:8212999-8213262	HCT-116	colon:	n/a	n/a
9	CEBPB	chr18:8212944-8213459	IMR90	lung:	n/a	n/a
10	CEBPB	chr18:8212878-8213513	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr18:8222990-8223056	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr18:8219732-8220021	IMR90	lung:	n/a	n/a
13	CEBPZ	chr18:8196841-8196951	HepG2	liver:	n/a	n/a
14	CHD2	chr18:8212824-8213311	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr18:8219860-8220010	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr18:8219940-8220090	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr18:8219860-8220010	AG09309	skin:	n/a	n/a
18	CTCF	chr18:8219980-8220130	HCM	heart:	n/a	n/a
19	CTCF	chr18:8196240-8196390	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr18:8219880-8220030	NHEK	skin:	n/a	n/a
21	CTCF	chr18:8219920-8220070	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr18:8208883-8209028	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr18:8219920-8220070	AG09319	gingival:	n/a	n/a
24	CTCF	chr18:8219920-8220070	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr18:8219840-8219990	GM12875	blood:	n/a	n/a
26	CTCF	chr18:8208920-8209070	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr18:8219940-8220090	HAc	cerebellar:	n/a	n/a
28	CTCF	chr18:8219880-8220030	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr18:8219880-8220030	BJ	skin:	n/a	n/a
30	CTCF	chr18:8219880-8220030	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr18:8219880-8220030	AG04449	skin:	n/a	n/a
32	CTCF	chr18:8219840-8219990	SAEC	small airway:	n/a	n/a
33	CTCF	chr18:8219840-8219990	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr18:8219937-8219993	GM12878	blood:	n/a	n/a
35	CTCF	chr18:8219777-8220130	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr18:8219855-8220061	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr18:8219860-8220010	HepG2	liver:	n/a	n/a
38	CTCF	chr18:8219940-8220090	SAEC	small airway:	n/a	n/a
39	CTCF	chr18:8219580-8219730	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr18:8219920-8220070	HMF	breast:	n/a	n/a
41	CTCF	chr18:8219820-8219970	BE2_C	brain:	n/a	n/a
42	CTCF	chr18:8219900-8220050	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr18:8219940-8220090	WI-38	lung:	n/a	n/a
44	CTCF	chr18:8219920-8220070	AG04449	skin:	n/a	n/a
45	CTCF	chr18:8219920-8220070	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr18:8219820-8219970	HPF	lung:	n/a	n/a
47	CTCF	chr18:8219940-8220090	A549	lung:	n/a	n/a
48	CTCF	chr18:8219860-8220010	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr18:8219960-8220110	AG04450	lung:	n/a	n/a
50	CTCF	chr18:8219940-8220090	NHLF	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:8197326..8200036-chr18:8203189..8205215,2	K562	blood:
2	chr18:8197911..8201497-chr18:8204347..8207548,3	MCF-7	breast:
3	chr18:8197911..8201497-chr18:8204347..8207548,3	MCF-7	breast:
4	chr18:8197326..8200036-chr18:8203189..8205215,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212067	TF binding region

Extended variants
information (count: 1381 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1381 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11875152	chr18:8193657-8193658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115410194	chr18:8193659-8193660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375992997	chr18:8193664-8193665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184481631	chr18:8193763-8193764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555258307	chr18:8193782-8193783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535835167	chr18:8193795-8193796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189241095	chr18:8193836-8193837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556040317	chr18:8193940-8193941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181260677	chr18:8193941-8193942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545063493	chr18:8193980-8193981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554182737	chr18:8194001-8194002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74421150	chr18:8194063-8194064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543140853	chr18:8194069-8194070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148340638	chr18:8194132-8194133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569418138	chr18:8194133-8194134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73941044	chr18:8194137-8194138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150475424	chr18:8194174-8194175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548962759	chr18:8194234-8194235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532888616	chr18:8194288-8194289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114916192	chr18:8194368-8194369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538688078	chr18:8194371-8194372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527364329	chr18:8194374-8194375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4798615	chr18:8194433-8194434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs567072213	chr18:8194438-8194439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142713657	chr18:8194440-8194441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79055460	chr18:8194441-8194442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549603845	chr18:8194443-8194444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73391929	chr18:8194482-8194483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186301367	chr18:8194497-8194498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553863368	chr18:8194499-8194500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554795292	chr18:8194507-8194508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191210194	chr18:8194519-8194520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555110035	chr18:8194567-8194568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79578167	chr18:8194573-8194574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544027990	chr18:8194577-8194578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115644773	chr18:8194648-8194649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577453198	chr18:8194696-8194697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61436863	chr18:8194698-8194699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559868858	chr18:8194705-8194706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578105824	chr18:8194799-8194800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9916918	chr18:8194809-8194810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548624498	chr18:8194845-8194846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386800935	chr18:8194899-8194900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77295724	chr18:8194901-8194902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549540784	chr18:8194915-8194916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180726459	chr18:8194924-8194925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11664360	chr18:8195008-8195009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538521893	chr18:8195020-8195021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547692060	chr18:8195038-8195039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565894726	chr18:8195044-8195045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8175000-8195000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:8178000-8198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:8178000-8204800	Weak transcription	Right Ventricle	heart
5	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:8178200-8200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
8	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
9	chr18:8179000-8196200	Weak transcription	Primary T cells from cord blood	blood
10	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:8185600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:8186800-8198600	Weak transcription	Right Atrium	heart
14	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:8191600-8200200	Weak transcription	Pancreas	Pancrea
17	chr18:8191800-8211800	Weak transcription	Left Ventricle	heart
18	chr18:8193200-8193800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr18:8193400-8194000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:8193400-8194000	Enhancers	Psoas Muscle	Psoas
21	chr18:8193600-8193800	Enhancers	Fetal Heart	heart
22	chr18:8193600-8193800	Enhancers	Ovary	ovary
23	chr18:8194000-8194400	Weak transcription	Psoas Muscle	Psoas
24	chr18:8194400-8194600	Enhancers	Psoas Muscle	Psoas
25	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
26	chr18:8196800-8215000	Weak transcription	Thymus	Thymus
27	chr18:8197400-8198000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr18:8198200-8199000	Weak transcription	Fetal Stomach	stomach
29	chr18:8198400-8199400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:8198600-8198800	Enhancers	Right Atrium	heart
31	chr18:8199200-8199400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:8199200-8199600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr18:8199200-8199800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr18:8199400-8200200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:8199400-8200400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:8199600-8200000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:8200000-8200600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr18:8200200-8200400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:8200200-8200600	Enhancers	Pancreas	Pancrea
41	chr18:8200400-8200600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:8200600-8211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:8204000-8205800	Weak transcription	Fetal Brain Male	brain
44	chr18:8204200-8204400	Enhancers	Fetal Heart	heart
45	chr18:8204400-8212000	Weak transcription	Fetal Heart	heart
46	chr18:8204400-8214600	Weak transcription	Fetal Stomach	stomach
47	chr18:8205200-8206000	Enhancers	Fetal Brain Female	brain
48	chr18:8205600-8225600	Weak transcription	Lung	lung
49	chr18:8205800-8206000	Enhancers	Fetal Brain Male	brain
50	chr18:8206800-8208800	Weak transcription	Right Ventricle	heart

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