Variant report

Variant	nsv576635
Chromosome Location	chr18:29129931-29148814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:29147012-29147181	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:29135876-29136268	K562	blood:	n/a	n/a
3	ARID3A	chr18:29135862-29136374	HepG2	liver:	n/a	n/a
4	BACH1	chr18:29134021-29134028	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr18:29135869-29136248	GM12878	blood:	n/a	n/a
6	CEBPB	chr18:29138557-29138800	A549	lung:	n/a	chr18:29138713-29138724
7	CEBPB	chr18:29138530-29138916	HepG2	liver:	n/a	chr18:29138713-29138724
8	CEBPB	chr18:29138638-29138836	Hela-S3	cervix:	n/a	chr18:29138713-29138724
9	CEBPB	chr18:29130882-29131242	HepG2	liver:	n/a	n/a
10	CEBPB	chr18:29146982-29147102	HepG2	liver:	n/a	n/a
11	CEBPB	chr18:29138524-29138879	HepG2	liver:	n/a	chr18:29138713-29138724
12	CEBPB	chr18:29138531-29138903	HepG2	liver:	n/a	chr18:29138713-29138724
13	CEBPB	chr18:29138580-29138775	HepG2	liver:	n/a	chr18:29138713-29138724
14	CEBPB	chr18:29138544-29138897	K562	blood:	n/a	chr18:29138713-29138724
15	CEBPB	chr18:29138681-29138804	H1-hESC	embryonic stem cell:	n/a	chr18:29138713-29138724
16	CEBPB	chr18:29130827-29131263	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:29130906-29131168	HepG2	liver:	n/a	n/a
18	CEBPB	chr18:29138621-29138767	IMR90	lung:	n/a	chr18:29138713-29138724
19	CEBPB	chr18:29130873-29131265	HepG2	liver:	n/a	n/a
20	CEBPD	chr18:29138591-29138837	HepG2	liver:	n/a	n/a
21	CHD2	chr18:29133893-29133983	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr18:29136935-29136940	HepG2	liver:	n/a	n/a
23	CHD2	chr18:29136760-29137052	K562	blood:	n/a	n/a
24	CTCF	chr18:29133920-29134070	HCT-116	colon:	n/a	n/a
25	CTCF	chr18:29136000-29136150	GM12872	blood:	n/a	n/a
26	CTCF	chr18:29143940-29144090	GM06990	blood:	n/a	n/a
27	CTCF	chr18:29133920-29134070	GM12865	blood:	n/a	n/a
28	CTCF	chr18:29144200-29144350	HEK293	kidney:	n/a	n/a
29	CTCF	chr18:29143860-29144010	HFF	foreskin:	n/a	chr18:29143931-29143949 chr18:29143932-29143948 chr18:29143936-29143944 chr18:29143926-29143947
30	CTCF	chr18:29135918-29136127	MCF-7	breast:	n/a	n/a
31	CTCF	chr18:29133820-29133970	HMEC	breast:	n/a	n/a
32	CTCF	chr18:29144400-29144550	GM12864	blood:	n/a	n/a
33	CTCF	chr18:29145725-29146203	HCT-116	colon:	n/a	n/a
34	CTCF	chr18:29143860-29144010	GM12869	blood:	n/a	chr18:29143931-29143949 chr18:29143932-29143948 chr18:29143936-29143944 chr18:29143926-29143947
35	CTCF	chr18:29145904-29145998	MCF-7	breast:	n/a	n/a
36	CTCF	chr18:29133900-29134050	HFF	foreskin:	n/a	n/a
37	CTCF	chr18:29135780-29135930	HAc	cerebellar:	n/a	n/a
38	CTCF	chr18:29144100-29144250	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr18:29137520-29137670	HEK293	kidney:	n/a	n/a
40	CTCF	chr18:29135985-29136068	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:29145817-29146029	GM12878	blood:	n/a	n/a
42	CTCF	chr18:29133864-29134027	NHEK	skin:	n/a	n/a
43	CTCF	chr18:29143906-29144049	HUVEC	blood vessel:	n/a	chr18:29143931-29143949 chr18:29143932-29143948 chr18:29143936-29143944 chr18:29143926-29143947
44	CTCF	chr18:29135909-29136149	LNCaP	prostate:	n/a	n/a
45	CTCF	chr18:29137580-29137730	HMEC	breast:	n/a	n/a
46	CTCF	chr18:29133868-29134030	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr18:29143920-29144070	AG09319	gingival:	n/a	chr18:29143931-29143949 chr18:29143932-29143948 chr18:29143936-29143944 chr18:29143926-29143947
48	CTCF	chr18:29143920-29144070	HCT-116	colon:	n/a	chr18:29143931-29143949 chr18:29143932-29143948 chr18:29143936-29143944 chr18:29143926-29143947
49	CTCF	chr18:29137600-29137750	GM12872	blood:	n/a	chr18:29137734-29137747
50	CTCF	chr18:29133819-29134083	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:29135564..29136362-chr18:29399476..29400304,3	MCF-7	breast:
2	chr18:29089738..29092422-chr18:29128090..29130094,2	MCF-7	breast:
3	chr18:29004154..29005000-chr18:29143490..29144004,2	K562	blood:
4	chr18:29004062..29004974-chr18:29135505..29136292,3	MCF-7	breast:
5	chr18:29003997..29005002-chr18:29143774..29144455,3	MCF-7	breast:
6	chr18:28820916..28822485-chr18:29145187..29146692,2	K562	blood:
7	chr18:29129102..29131935-chr18:29134564..29137415,2	K562	blood:
8	chr18:29003931..29004668-chr18:29134416..29135171,2	MCF-7	breast:
9	chr18:29135071..29136376-chr18:29302039..29303290,3	MCF-7	breast:
10	chr18:29114657..29116282-chr18:29138733..29141609,2	K562	blood:
11	chr18:29135645..29138450-chr18:29143934..29145526,2	MCF-7	breast:
12	chr18:29077257..29078903-chr18:29144506..29147477,2	MCF-7	breast:
13	chr18:29135623..29136433-chr18:29206170..29207050,3	MCF-7	breast:
14	chr18:29135862..29136519-chr5:43095462..43095982,3	MCF-7	breast:
15	chr18:29145542..29146264-chr18:29205706..29207014,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALT6-1	chr18:29134605-29134678	ENSG00000264859.1
2	lnc-B4GALT6-1	chr18:29135926-29136084	ENSG00000264859.1
3	lnc-B4GALT6-1	chr18:29130095-29130322	ENSG00000264859.1
4	lnc-B4GALT6-1	chr18:29136520-29136868	ENSG00000264859.1

Variant related genes	Relation type
ENSG00000264859	TF binding region
ENSG00000264859	chromatin interactions
ENSG00000046604	chromatin interactions

Extended variants
information (count: 742 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1667216	chr18:29129931-29129932	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191319516	chr18:29129938-29129939	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141495534	chr18:29129998-29129999	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181214230	chr18:29130026-29130027	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371963325	chr18:29130053-29130054	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561992322	chr18:29130067-29130068	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34573859	chr18:29130083-29130084	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566663604	chr18:29130151-29130152	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs186961300	chr18:29130185-29130186	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs191919645	chr18:29130225-29130226	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs34076067	chr18:29130236-29130237	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs75810919	chr18:29130240-29130241	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs529436531	chr18:29130259-29130260	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs574538755	chr18:29130284-29130285	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs556318338	chr18:29130340-29130341	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575862934	chr18:29130410-29130411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375016002	chr18:29130452-29130453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79013065	chr18:29130484-29130485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141908287	chr18:29130491-29130492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555245125	chr18:29130497-29130498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75184089	chr18:29130510-29130511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540947577	chr18:29130535-29130536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114897762	chr18:29130569-29130570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532553328	chr18:29130604-29130605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7243604	chr18:29130605-29130606	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs541679154	chr18:29130685-29130686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10557431	chr18:29130704-29130705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs398038574	chr18:29130705-29130706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149361951	chr18:29130810-29130811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529798145	chr18:29130823-29130824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182867207	chr18:29130868-29130869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577134245	chr18:29130891-29130892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546059456	chr18:29130907-29130908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187982635	chr18:29130915-29130916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376829295	chr18:29130995-29130996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369839394	chr18:29130996-29130997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551108108	chr18:29131017-29131018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373148943	chr18:29131120-29131121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190896141	chr18:29131151-29131152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572455680	chr18:29131159-29131160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182428356	chr18:29131184-29131185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535594616	chr18:29131207-29131208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs386802146	chr18:29131224-29131225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1791230	chr18:29131248-29131249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs534193860	chr18:29131253-29131254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187790048	chr18:29131290-29131291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192801693	chr18:29131318-29131319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112039112	chr18:29131320-29131321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34367607	chr18:29131338-29131339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184853558	chr18:29131352-29131353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29097800-29130600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
4	chr18:29117000-29136000	Weak transcription	A549	lung
5	chr18:29122800-29131800	Weak transcription	Colonic Mucosa	Colon
6	chr18:29123600-29131200	Weak transcription	Placenta	Placenta
7	chr18:29123600-29142200	Weak transcription	Fetal Kidney	kidney
8	chr18:29126600-29131000	Weak transcription	Liver	Liver
9	chr18:29126600-29132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:29126600-29133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:29126600-29136200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:29126800-29136000	Weak transcription	GM12878-XiMat	blood
13	chr18:29126800-29136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:29127000-29136200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr18:29127200-29131600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:29127200-29131600	Weak transcription	Fetal Lung	lung
17	chr18:29127200-29136000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:29127200-29136200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:29127200-29136200	Weak transcription	Ovary	ovary
20	chr18:29127200-29136200	Weak transcription	Hela-S3	cervix
21	chr18:29127400-29131200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr18:29127400-29132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:29127400-29136000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:29127600-29136000	Weak transcription	NHEK	skin
25	chr18:29127600-29136200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr18:29128000-29131600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:29128000-29133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:29128600-29130200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:29129000-29130000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr18:29129000-29130400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr18:29129200-29143200	Weak transcription	Gastric	stomach
32	chr18:29129400-29131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:29129600-29130000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:29129600-29130400	Strong transcription	HMEC	breast
35	chr18:29129600-29130800	Weak transcription	HepG2	liver
36	chr18:29129800-29130000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr18:29129800-29131000	Weak transcription	Fetal Intestine Large	intestine
38	chr18:29129800-29131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:29129800-29134200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr18:29129800-29134200	Weak transcription	Fetal Intestine Small	intestine
41	chr18:29130000-29134400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:29130000-29134800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr18:29130200-29136200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:29130400-29135000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr18:29130400-29136200	Weak transcription	HMEC	breast
46	chr18:29130600-29132400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:29130800-29132200	Enhancers	HepG2	liver
48	chr18:29131000-29131600	Enhancers	Fetal Intestine Large	intestine
49	chr18:29131000-29132200	Enhancers	Liver	Liver
50	chr18:29131200-29132200	Enhancers	Placenta	Placenta

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