Variant report

Variant	nsv962873
Chromosome Location	chr18:29611573-29616326
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	CEBPB	chr18:29612639-29612839	HepG2	liver:	n/a	chr18:29612772-29612783
2	CEBPB	chr18:29612642-29612889	K562	blood:	n/a	chr18:29612772-29612783
3	CTCF	chr18:29614043-29614108	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29599759..29602632-chr18:29612702..29615585,2	K562	blood:

Variant related genes	Relation type
RNF125	TF binding region

Extended variants
information (count: 147 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555120731	chr18:29611677-29611678	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573645207	chr18:29611847-29611848	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187322419	chr18:29611925-29611926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559097623	chr18:29611938-29611939	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192674517	chr18:29611970-29611971	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143310344	chr18:29612062-29612063	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563363631	chr18:29612099-29612100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184704255	chr18:29612125-29612126	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550428074	chr18:29612129-29612130	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568658573	chr18:29612132-29612133	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189151806	chr18:29612139-29612140	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548021307	chr18:29612153-29612154	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565960409	chr18:29612190-29612191	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199803921	chr18:29612271-29612272	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539785504	chr18:29612282-29612283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180913106	chr18:29612364-29612365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373325865	chr18:29612387-29612388	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570160362	chr18:29612396-29612397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573774599	chr18:29612398-29612399	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148324298	chr18:29612405-29612406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540848847	chr18:29612437-29612438	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140326529	chr18:29612503-29612504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534607380	chr18:29612561-29612562	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553206549	chr18:29612641-29612642	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs56407503	chr18:29612652-29612653	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545025909	chr18:29612664-29612665	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371109727	chr18:29612749-29612750	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563118819	chr18:29612770-29612771	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs141523253	chr18:29612778-29612779	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542700525	chr18:29612795-29612796	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs78769487	chr18:29612806-29612807	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116028782	chr18:29612810-29612811	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs113015805	chr18:29612815-29612816	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs58971242	chr18:29612818-29612819	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114199176	chr18:29612823-29612824	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs533436438	chr18:29612824-29612825	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369713889	chr18:29612845-29612846	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs560623852	chr18:29612868-29612869	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76083707	chr18:29612942-29612943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569705776	chr18:29612990-29612991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537157672	chr18:29612998-29612999	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373139985	chr18:29613002-29613003	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189687767	chr18:29613076-29613077	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567147168	chr18:29613089-29613090	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529017195	chr18:29613119-29613120	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534478320	chr18:29613155-29613156	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75817482	chr18:29613161-29613162	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111852294	chr18:29613184-29613185	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112564974	chr18:29613185-29613186	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577899654	chr18:29613189-29613190	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600200-29617200	Weak transcription	Lung	lung
3	chr18:29600400-29616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:29600400-29617000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:29600600-29616800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:29600600-29617000	Weak transcription	Left Ventricle	heart
7	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
9	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:29602000-29617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:29602600-29617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:29602800-29616600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:29602800-29617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:29602800-29617200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:29602800-29617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:29602800-29617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:29602800-29620600	Weak transcription	Brain Angular Gyrus	brain
20	chr18:29603600-29617200	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:29605000-29612200	Weak transcription	Fetal Intestine Small	intestine
23	chr18:29606600-29617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:29606600-29617800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
26	chr18:29607000-29616800	Weak transcription	Adipose Nuclei	Adipose
27	chr18:29607200-29617000	Weak transcription	Fetal Thymus	thymus
28	chr18:29607600-29615200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:29607800-29617200	Weak transcription	Brain Substantia Nigra	brain
30	chr18:29609800-29618400	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
32	chr18:29610000-29617200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr18:29610400-29613000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr18:29610400-29619600	Weak transcription	Ovary	ovary
35	chr18:29610600-29613000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:29610800-29612400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:29610800-29613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr18:29610800-29613000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:29610800-29613200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:29610800-29614400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr18:29610800-29614600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:29611000-29611600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr18:29611000-29611800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr18:29611000-29612200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:29611000-29612600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:29611000-29616800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr18:29611200-29612200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr18:29611200-29613600	Strong transcription	Primary T cells from cord blood	blood
49	chr18:29611200-29616800	Weak transcription	Primary B cells from cord blood	blood
50	chr18:29611200-29617000	Weak transcription	Thymus	Thymus

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