Variant report

Variant	nsv9608
Chromosome Location	chr18:12072482-12078283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr18:12076645-12076788	K562	blood:	n/a	n/a
2	CREB1	chr18:12076434-12076834	A549	lung:	n/a	n/a
3	CTCF	chr18:12074880-12075030	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr18:12074881-12074939	HepG2	liver:	n/a	n/a
5	CTCF	chr18:12074860-12075010	GM12864	blood:	n/a	n/a
6	CTCF	chr18:12074858-12074993	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr18:12074921-12074935	LNCaP	prostate:	n/a	n/a
8	CTCF	chr18:12074880-12074950	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr18:12074830-12075012	GM19240	blood:	n/a	n/a
10	CTCF	chr18:12074860-12075010	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr18:12074841-12075013	HepG2	liver:	n/a	n/a
12	CTCF	chr18:12074840-12074990	HMEC	breast:	n/a	n/a
13	CTCF	chr18:12074876-12074956	MCF-7	breast:	n/a	n/a
14	CTCF	chr18:12074840-12074990	Caco-2	colon:	n/a	n/a
15	CTCF	chr18:12074820-12074970	GM12873	blood:	n/a	n/a
16	CTCF	chr18:12074900-12075050	AG10803	skin:	n/a	n/a
17	CTCF	chr18:12074860-12075010	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr18:12074880-12075030	SAEC	small airway:	n/a	n/a
19	CTCF	chr18:12074880-12075030	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr18:12074868-12074952	ProgFib	skin:	n/a	n/a
21	CTCF	chr18:12074847-12074993	A549	lung:	n/a	n/a
22	CTCF	chr18:12074635-12075244	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr18:12074852-12075015	GM19239	blood:	n/a	n/a
24	CTCF	chr18:12074780-12074930	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr18:12074841-12075002	K562	blood:	n/a	n/a
26	CTCF	chr18:12074821-12075019	GM19238	blood:	n/a	n/a
27	CTCF	chr18:12074900-12075050	HMF	breast:	n/a	n/a
28	CTCF	chr18:12074871-12074957	MCF-7	breast:	n/a	n/a
29	CTCF	chr18:12074820-12074970	GM12867	blood:	n/a	n/a
30	CTCF	chr18:12074840-12074990	GM12873	blood:	n/a	n/a
31	CTCF	chr18:12074884-12074967	GM10266	blood:	n/a	n/a
32	CTCF	chr18:12074840-12074990	RPTEC	kidney:	n/a	n/a
33	CTCF	chr18:12074793-12074998	K562	blood:	n/a	n/a
34	CTCF	chr18:12074860-12075010	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr18:12074780-12074930	GM06990	blood:	n/a	n/a
36	CTCF	chr18:12074840-12074990	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr18:12074860-12075010	NHLF	lung:	n/a	n/a
38	CTCF	chr18:12074860-12075010	HPF	lung:	n/a	n/a
39	CTCF	chr18:12074860-12075010	GM12872	blood:	n/a	n/a
40	CTCF	chr18:12074906-12074934	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:12074840-12074990	AG09319	gingival:	n/a	n/a
42	CTCF	chr18:12074814-12075050	K562	blood:	n/a	n/a
43	CTCF	chr18:12074825-12075011	NHEK	skin:	n/a	n/a
44	CTCF	chr18:12074860-12075010	AG10803	skin:	n/a	n/a
45	CTCF	chr18:12074860-12075010	GM12865	blood:	n/a	n/a
46	CTCF	chr18:12074820-12074970	AG04449	skin:	n/a	n/a
47	CTCF	chr18:12074860-12075010	GM12869	blood:	n/a	n/a
48	CTCF	chr18:12074814-12075038	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr18:12074861-12075002	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr18:12074848-12074999	Fibrobl	skin:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12077147-12077197	Hela-S3	cervix:	n/a
2	chr18:12076365-12076415	HCT-116	colon:	n/a
3	chr18:12076365-12076415	AG09319	gingival:	n/a
4	chr18:12077147-12077197	AG04450	lung:	fetal
5	chr18:12077147-12077197	ovcar-3	ovarian:	n/a
6	chr18:12073455-12073505	PFSK-1	brain:	n/a
7	chr18:12073455-12073505	HCT-116	colon:	n/a
8	chr18:12076435-12076485	HCM	heart:	n/a
9	chr18:12073455-12073505	HCM	heart:	n/a
10	chr18:12073455-12073505	GM12891	blood:	n/a
11	chr18:12077147-12077197	HEK293	kidney:	embryo
12	chr18:12076435-12076485	GM12878	blood:	n/a
13	chr18:12076476-12076526	HMEC	breast:	n/a
14	chr18:12076365-12076415	PrEC	prostate:	n/a
15	chr18:12077147-12077197	GM12878	blood:	n/a
16	chr18:12076365-12076415	ProgFib	skin:	n/a
17	chr18:12076476-12076526	GM12891	blood:	n/a
18	chr18:12076476-12076526	HEEpiC	esophagus:	n/a
19	chr18:12076476-12076526	HRPEpiC	eye:	n/a
20	chr18:12073455-12073505	H1-hESC	embryonic stem cell:	embryo
21	chr18:12077147-12077197	U87	brain:	n/a
22	chr18:12077147-12077197	HepG2	liver:	n/a
23	chr18:12076365-12076415	AG10803	skin:	n/a
24	chr18:12073455-12073505	ECC-1	luminal epithelium:	n/a
25	chr18:12076435-12076485	HL-60	blood:	n/a
26	chr18:12076365-12076415	NHDF-neo	bronchial:	n/a
27	chr18:12076476-12076526	HepG2	liver:	n/a
28	chr18:12076435-12076485	AG10803	skin:	n/a
29	chr18:12077147-12077197	NH-A	brain:	n/a
30	chr18:12076435-12076485	SK-N-SH	brain:	n/a
31	chr18:12073455-12073505	PrEC	prostate:	n/a
32	chr18:12073455-12073505	MCF-7	breast:	n/a
33	chr18:12076365-12076415	SK-N-SH_RA	brain:	n/a
34	chr18:12076476-12076526	GM06990	blood:	n/a
35	chr18:12076435-12076485	A549	lung:	n/a
36	chr18:12076365-12076415	HL-60	blood:	n/a
37	chr18:12073455-12073505	NB4	blood:	n/a
38	chr18:12076435-12076485	ovcar-3	ovarian:	n/a
39	chr18:12076476-12076526	NHDF-neo	bronchial:	n/a
40	chr18:12077147-12077197	HEEpiC	esophagus:	n/a
41	chr18:12076435-12076485	GM12891	blood:	n/a
42	chr18:12076476-12076526	RPTEC	kidney:	n/a
43	chr18:12076435-12076485	T-47D	breast:	n/a
44	chr18:12076476-12076526	SK-N-MC	brain:	n/a
45	chr18:12076365-12076415	HIPEpiC	eye:	n/a
46	chr18:12073455-12073505	GM19239	blood:	n/a
47	chr18:12076476-12076526	AoSMC	blood vessel:	n/a
48	chr18:12077147-12077197	Jurkat	blood:	n/a
49	chr18:12076435-12076485	Caco-2	colon:	n/a
50	chr18:12076435-12076485	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12076450..12076959-chr4:22517248..22517778,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD62-1	chr18:12074792-12075074	XLOC_012628
2	lnc-ANKRD62-1	chr18:12073319-12073537	XLOC_012628

No data

Variant related genes	Relation type
ENSG00000267722	TF binding region
ENSG00000256616	TF binding region
ENSG00000267533	TF binding region
ENSG00000267722	CpG island
ENSG00000256616	CpG island
ENSG00000267533	CpG island
ENSG00000152990	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78292655	chr18:12072616-12072617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371361070	chr18:12072649-12072650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572276895	chr18:12072679-12072680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182796539	chr18:12072711-12072712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375013406	chr18:12072738-12072739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527765766	chr18:12072973-12072974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12373463	chr18:12072991-12072992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34343663	chr18:12073057-12073058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371792324	chr18:12073091-12073092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544262276	chr18:12073130-12073131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559395130	chr18:12073198-12073199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533153411	chr18:12073271-12073272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558250801	chr18:12073292-12073293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551513222	chr18:12073339-12073340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs369228451	chr18:12073366-12073367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs144814567	chr18:12073437-12073438	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs188307247	chr18:12073441-12073442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs547668600	chr18:12073460-12073461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567812891	chr18:12073502-12073503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs10853216	chr18:12073520-12073521	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531978482	chr18:12073548-12073549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192839259	chr18:12073552-12073553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571410958	chr18:12073572-12073573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185187257	chr18:12073577-12073578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62097598	chr18:12073582-12073583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568693935	chr18:12073583-12073584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572019552	chr18:12073596-12073597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113964956	chr18:12073653-12073654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75381528	chr18:12073686-12073687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76892988	chr18:12073687-12073688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187624791	chr18:12073710-12073711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112626717	chr18:12073762-12073763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535786600	chr18:12073788-12073789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28390107	chr18:12073863-12073864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575825355	chr18:12073884-12073885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114161446	chr18:12073903-12073904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369441306	chr18:12073915-12073916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547752782	chr18:12073959-12073960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562621411	chr18:12073993-12073994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533286538	chr18:12074076-12074077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545499797	chr18:12074127-12074128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368477232	chr18:12074133-12074134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8087542	chr18:12074150-12074151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527688258	chr18:12074157-12074158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549370106	chr18:12074180-12074181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150609871	chr18:12074184-12074185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531938024	chr18:12074240-12074241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117444446	chr18:12074250-12074251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115611303	chr18:12074273-12074274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570030162	chr18:12074279-12074280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Autism	20531469	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
2	chr18:12066000-12076400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:12068600-12076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12072200-12076400	Weak transcription	HUVEC	blood vessel
5	chr18:12074600-12077000	Active TSS	Fetal Brain Female	brain
6	chr18:12075000-12075400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr18:12075400-12076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:12076000-12076200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr18:12076200-12076400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:12076200-12076400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr18:12076200-12076400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:12076200-12076400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr18:12076200-12076400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr18:12076200-12076400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:12076200-12076400	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
19	chr18:12076200-12076400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr18:12076200-12076400	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr18:12076200-12076600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:12076200-12076600	Bivalent Enhancer	K562	blood
23	chr18:12076200-12076600	Enhancers	NH-A	brain
24	chr18:12076200-12076800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:12076200-12076800	Active TSS	Adipose Nuclei	Adipose
26	chr18:12076200-12076800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr18:12076200-12077000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:12076200-12077000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:12076200-12077000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:12076200-12077000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:12076200-12077000	Active TSS	Fetal Muscle Trunk	muscle
32	chr18:12076200-12077000	Active TSS	Fetal Muscle Leg	muscle
33	chr18:12076200-12077000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr18:12076200-12077000	Active TSS	Osteobl	bone
35	chr18:12076200-12077200	Active TSS	A549	lung
36	chr18:12076400-12076600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:12076400-12076600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr18:12076400-12076600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr18:12076400-12076800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:12076400-12076800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr18:12076400-12076800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:12076400-12076800	Active TSS	Colonic Mucosa	Colon
43	chr18:12076400-12076800	Active TSS	Pancreas	Pancrea
44	chr18:12076400-12076800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr18:12076400-12076800	Active TSS	HUVEC	blood vessel
46	chr18:12076400-12077000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr18:12076400-12077000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr18:12076400-12077000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr18:12076400-12077000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr18:12076400-12077000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links