Variant report

Variant	esv999328
Chromosome Location	chr18:44431002-44438662
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	BHLHE40	chr18:44437026-44437107	K562	blood:	n/a	n/a
2	CTCF	chr18:44437420-44437570	GM06990	blood:	n/a	n/a
3	CTCF	chr18:44437060-44437210	AG09319	gingival:	n/a	chr18:44437149-44437170
4	CTCF	chr18:44437073-44437214	GM12878	blood:	n/a	chr18:44437149-44437170
5	CTCF	chr18:44437020-44437170	MCF-7	breast:	n/a	chr18:44437149-44437170
6	CTCF	chr18:44437100-44437250	HVMF	connective:	n/a	chr18:44437149-44437170
7	CTCF	chr18:44437119-44437214	Hela-S3	cervix:	n/a	chr18:44437149-44437170
8	CTCF	chr18:44437101-44437231	K562	blood:	n/a	chr18:44437149-44437170
9	CTCF	chr18:44437100-44437250	HCPEpiC	choroid plexus:	n/a	chr18:44437149-44437170
10	CTCF	chr18:44437040-44437300	MCF-7	breast:	n/a	chr18:44437149-44437170
11	CTCF	chr18:44437080-44437230	WERI-Rb-1	eye:	n/a	chr18:44437149-44437170
12	CTCF	chr18:44437080-44437230	HMF	breast:	n/a	chr18:44437149-44437170
13	CTCF	chr18:44437080-44437266	HUVEC	blood vessel:	n/a	chr18:44437149-44437170
14	CTCF	chr18:44437040-44437190	GM12875	blood:	n/a	chr18:44437149-44437170
15	CTCF	chr18:44437180-44437330	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr18:44437120-44437270	AG10803	skin:	n/a	chr18:44437149-44437170
17	CTCF	chr18:44437100-44437250	AG09319	gingival:	n/a	chr18:44437149-44437170
18	CTCF	chr18:44437080-44437230	HA-sp	spinal cord:	n/a	chr18:44437149-44437170
19	CTCF	chr18:44437078-44437221	MCF-7	breast:	n/a	chr18:44437149-44437170
20	CTCF	chr18:44437040-44437190	HUVEC	blood vessel:	n/a	chr18:44437149-44437170
21	CTCF	chr18:44436999-44437218	H1-hESC	embryonic stem cell:	n/a	chr18:44437149-44437170
22	CTCF	chr18:44437017-44437356	HCT-116	colon:	n/a	chr18:44437149-44437170
23	CTCF	chr18:44437160-44437310	HAc	cerebellar:	n/a	n/a
24	CTCF	chr18:44437134-44437219	Lung_OC	lung:	n/a	chr18:44437149-44437170
25	CTCF	chr18:44437109-44437209	MCF-7	breast:	n/a	chr18:44437149-44437170
26	CTCF	chr18:44436961-44437350	GM12878	blood:	n/a	chr18:44437149-44437170
27	CTCF	chr18:44437030-44437347	K562	blood:	n/a	chr18:44437149-44437170
28	CTCF	chr18:44437020-44437170	NHLF	lung:	n/a	chr18:44437149-44437170
29	CTCF	chr18:44437060-44437210	HAc	cerebellar:	n/a	chr18:44437149-44437170
30	CTCF	chr18:44437126-44437225	GM10266	blood:	n/a	chr18:44437149-44437170
31	CTCF	chr18:44437140-44437290	RPTEC	kidney:	n/a	chr18:44437149-44437170
32	CTCF	chr18:44437080-44437230	GM12872	blood:	n/a	chr18:44437149-44437170
33	CTCF	chr18:44437020-44437170	HMEC	breast:	n/a	chr18:44437149-44437170
34	CTCF	chr18:44437093-44437178	Fibrobl	skin:	n/a	chr18:44437149-44437170
35	IKZF1	chr18:44437529-44437667	GM12878	blood:	n/a	n/a
36	NFYB	chr18:44437672-44437983	GM12878	blood:	n/a	chr18:44437760-44437773
37	POLR2A	chr18:44434855-44434858	Gliobla	brain:	n/a	n/a
38	POLR2A	chr18:44434819-44434837	Gliobla	brain:	n/a	n/a
39	POLR2A	chr18:44436799-44436832	Gliobla	brain:	n/a	n/a
40	RAD21	chr18:44436992-44437287	HCT-116	colon:	n/a	chr18:44437152-44437171
41	RAD21	chr18:44436949-44437298	HCT-116	colon:	n/a	chr18:44437152-44437171
42	RAD21	chr18:44437071-44437216	HepG2	liver:	n/a	chr18:44437152-44437171
43	RAD21	chr18:44436969-44437280	H1-hESC	embryonic stem cell:	n/a	chr18:44437152-44437171
44	RAD21	chr18:44436862-44437262	MCF-7	breast:	n/a	chr18:44437152-44437171
45	RAD21	chr18:44436947-44437328	H1-hESC	embryonic stem cell:	n/a	chr18:44437152-44437171
46	RAD21	chr18:44436945-44437245	SK-N-SH_RA	brain:	n/a	chr18:44437152-44437171
47	RAD21	chr18:44437063-44437239	GM12878	blood:	n/a	chr18:44437152-44437171
48	RAD21	chr18:44436993-44437321	GM12878	blood:	n/a	chr18:44437152-44437171
49	RAD21	chr18:44437053-44437243	SK-N-SH_RA	brain:	n/a	chr18:44437152-44437171
50	RAD21	chr18:44436991-44437292	Hela-S3	cervix:	n/a	chr18:44437152-44437171

No.	Distal block	Cell Line	Cell type
1	chr18:44423735..44426225-chr18:44437985..44439545,2	K562	blood:
2	chr18:44437029..44439059-chr18:44441936..44443633,2	K562	blood:
3	chr18:44431304..44434068-chr18:44434651..44437346,2	K562	blood:
4	chr18:44431175..44433784-chr18:44497358..44499614,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA5-3	chr18:44432595-44433074	NONHSAT059147
2	lnc-ST8SIA5-3	chr18:44433792-44433845	NONHSAT059147
3	lnc-ST8SIA5-3	chr18:44433394-44433480	NONHSAT059147

Variant related genes	Relation type
ENSG00000267587	TF binding region
ENSG00000078043	chromatin interactions
ENSG00000167216	chromatin interactions
ENSG00000267587	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540404266	chr18:44431017-44431018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538915104	chr18:44431032-44431033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193161875	chr18:44431064-44431065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185124172	chr18:44431085-44431086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116331138	chr18:44431112-44431113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562850287	chr18:44431145-44431146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142273225	chr18:44431165-44431166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188848926	chr18:44431204-44431205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563954599	chr18:44431215-44431216	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567231636	chr18:44431262-44431263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73957803	chr18:44431289-44431290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546418120	chr18:44431296-44431297	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529490524	chr18:44431298-44431299	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549132395	chr18:44431338-44431339	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529083781	chr18:44431356-44431357	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549260637	chr18:44431370-44431371	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113500934	chr18:44431371-44431372	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373579456	chr18:44431508-44431509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569192595	chr18:44431595-44431596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181174307	chr18:44431707-44431708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535844735	chr18:44431768-44431769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183927105	chr18:44431794-44431795	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534293589	chr18:44431827-44431828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs658756	chr18:44431832-44431833	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs113913745	chr18:44431867-44431868	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141260986	chr18:44431937-44431938	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs202223902	chr18:44431974-44431975	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556410525	chr18:44431981-44431982	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs17781212	chr18:44432036-44432037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs8095524	chr18:44432090-44432091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7241858	chr18:44432127-44432128	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577616290	chr18:44432151-44432152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540279105	chr18:44432182-44432183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560002743	chr18:44432191-44432192	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188357467	chr18:44432205-44432206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115659546	chr18:44432245-44432246	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562704159	chr18:44432246-44432247	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531624997	chr18:44432341-44432342	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551431085	chr18:44432375-44432376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs571569932	chr18:44432381-44432382	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs549766021	chr18:44432412-44432413	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147985658	chr18:44432422-44432423	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547834046	chr18:44432578-44432579	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201349024	chr18:44432666-44432667	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs567675012	chr18:44432749-44432750	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs73437140	chr18:44432777-44432778	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572228892	chr18:44432815-44432816	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs180767663	chr18:44432832-44432833	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs141608391	chr18:44432857-44432858	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs187415326	chr18:44432965-44432966	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
4	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
5	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
7	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
8	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
9	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
11	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
12	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
14	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
15	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
16	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
17	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
18	chr18:44401400-44437600	Weak transcription	HMEC	breast
19	chr18:44402000-44440800	Weak transcription	A549	lung
20	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:44407600-44431400	Weak transcription	Brain Anterior Caudate	brain
26	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:44408000-44431200	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:44408000-44433800	Weak transcription	NH-A	brain
29	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
31	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
32	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:44408400-44433800	Weak transcription	Osteobl	bone
35	chr18:44408600-44431400	Weak transcription	Aorta	Aorta
36	chr18:44408600-44436800	Weak transcription	NHLF	lung
37	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:44408800-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr18:44408800-44448200	Weak transcription	Lung	lung
41	chr18:44409200-44432600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:44409400-44432400	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:44409400-44432800	Weak transcription	Ovary	ovary
45	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr18:44409800-44432800	Weak transcription	Thymus	Thymus
50	chr18:44409800-44433800	Weak transcription	Left Ventricle	heart

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