Variant report

Variant	esv2599797
Chromosome Location	chr19:36117682-36119524
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	ATF1	chr19:36119420-36120633	K562	blood:	n/a	n/a
2	ATF2	chr19:36119406-36120157	GM12878	blood:	n/a	n/a
3	ATF3	chr19:36119487-36120149	K562	blood:	n/a	chr19:36119652-36119661 chr19:36119913-36119933 chr19:36119911-36119924 chr19:36119914-36119922 chr19:36119911-36119922 chr19:36119946-36119966 chr19:36119947-36119958 chr19:36119914-36119921 chr19:36119910-36119925 chr19:36119913-36119921
4	ATF3	chr19:36119375-36120159	A549	lung:	n/a	chr19:36119652-36119661 chr19:36119913-36119933 chr19:36119911-36119924 chr19:36119914-36119922 chr19:36119911-36119922 chr19:36119946-36119966 chr19:36119947-36119958 chr19:36119914-36119921 chr19:36119910-36119925 chr19:36119913-36119921
5	ATF3	chr19:36119250-36120185	A549	lung:	n/a	chr19:36119652-36119661 chr19:36119913-36119933 chr19:36119911-36119924 chr19:36119914-36119922 chr19:36119911-36119922 chr19:36119946-36119966 chr19:36119947-36119958 chr19:36119914-36119921 chr19:36119910-36119925 chr19:36119913-36119921
6	BACH1	chr19:36119463-36119663	K562	blood:	n/a	n/a
7	BCL3	chr19:36119068-36120924	A549	lung:	n/a	chr19:36119646-36119655
8	BCL3	chr19:36119105-36120260	A549	lung:	n/a	chr19:36119646-36119655
9	BHLHE40	chr19:36119475-36120065	K562	blood:	n/a	n/a
10	CBX3	chr19:36119514-36120101	K562	blood:	n/a	n/a
11	CCNT2	chr19:36119472-36120135	K562	blood:	n/a	n/a
12	CEBPB	chr19:36119421-36120061	HepG2	liver:	n/a	chr19:36119889-36119897
13	CEBPB	chr19:36119415-36120105	Hela-S3	cervix:	n/a	chr19:36119889-36119897
14	CEBPB	chr19:36119486-36119660	HepG2	liver:	n/a	n/a
15	CEBPB	chr19:36119423-36120103	HepG2	liver:	n/a	chr19:36119889-36119897
16	CEBPB	chr19:36119232-36120185	A549	lung:	n/a	chr19:36119889-36119897
17	CEBPB	chr19:36119415-36120032	H1-hESC	embryonic stem cell:	n/a	chr19:36119889-36119897
18	CEBPB	chr19:36119451-36120025	K562	blood:	n/a	chr19:36119889-36119897
19	CEBPB	chr19:36119498-36120047	K562	blood:	n/a	chr19:36119889-36119897
20	CEBPB	chr19:36119397-36120148	MCF-7	breast:	n/a	chr19:36119889-36119897
21	CEBPB	chr19:36119425-36120072	A549	lung:	n/a	chr19:36119889-36119897
22	CEBPD	chr19:36119351-36119733	HepG2	liver:	n/a	n/a
23	CEBPD	chr19:36119502-36120151	K562	blood:	n/a	n/a
24	CHD1	chr19:36119376-36120230	GM12878	blood:	n/a	n/a
25	CREB1	chr19:36119330-36120202	A549	lung:	n/a	chr19:36119911-36119924
26	CREB1	chr19:36119398-36120347	GM12878	blood:	n/a	chr19:36119911-36119924
27	CREB1	chr19:36119393-36120296	K562	blood:	n/a	chr19:36119911-36119924
28	CREB1	chr19:36119429-36120250	H1-hESC	embryonic stem cell:	n/a	chr19:36119911-36119924
29	CREB1	chr19:36119404-36120415	H1-hESC	embryonic stem cell:	n/a	chr19:36119911-36119924
30	CREB1	chr19:36119137-36120447	GM12878	blood:	n/a	chr19:36119911-36119924
31	CREB1	chr19:36119371-36120358	ECC-1	luminal epithelium:	n/a	chr19:36119911-36119924
32	CREB1	chr19:36119349-36120354	HepG2	liver:	n/a	chr19:36119911-36119924
33	CREB1	chr19:36119165-36120553	HepG2	liver:	n/a	chr19:36119911-36119924
34	CREB1	chr19:36119328-36120496	A549	lung:	n/a	chr19:36119911-36119924
35	CREB1	chr19:36119426-36120368	ECC-1	luminal epithelium:	n/a	chr19:36119911-36119924
36	CREB1	chr19:36119371-36120386	K562	blood:	n/a	chr19:36119911-36119924
37	CUX1	chr19:36119414-36119927	K562	blood:	n/a	n/a
38	E2F4	chr19:36119463-36120074	MCF10A-Er-Src	breast:	n/a	chr19:36119914-36119923 chr19:36119895-36119906 chr19:36119912-36119921
39	E2F4	chr19:36119479-36120049	GM12878	blood:	n/a	chr19:36119914-36119923 chr19:36119895-36119906 chr19:36119912-36119921
40	E2F4	chr19:36119479-36120121	K562	blood:	n/a	chr19:36119914-36119923 chr19:36119895-36119906 chr19:36119912-36119921
41	E2F6	chr19:36119220-36120255	A549	lung:	n/a	chr19:36119914-36119923 chr19:36119912-36119921
42	ELF1	chr19:36119305-36120147	SK-N-SH	brain:	n/a	chr19:36119654-36119666
43	ELF1	chr19:36119230-36120177	A549	lung:	n/a	chr19:36119654-36119666
44	ELF1	chr19:36119275-36120243	MCF-7	breast:	n/a	chr19:36119654-36119666
45	ELF1	chr19:36119274-36120266	MCF-7	breast:	n/a	chr19:36119654-36119666
46	ELF1	chr19:36119292-36120610	GM12878	blood:	n/a	chr19:36119654-36119666
47	ELF1	chr19:36119417-36120095	K562	blood:	n/a	chr19:36119654-36119666
48	ELF1	chr19:36119279-36120135	K562	blood:	n/a	chr19:36119654-36119666
49	ELF1	chr19:36119262-36120119	GM12878	blood:	n/a	chr19:36119654-36119666
50	ELF1	chr19:36119293-36120182	HepG2	liver:	n/a	chr19:36119654-36119666

No.	Distal block	Cell Line	Cell type
1	chr19:36118444..36125285-chr19:36125367..36133017,11	MCF-7	breast:
2	chr19:35739540..35741218-chr19:36118965..36121902,2	MCF-7	breast:
3	chr19:36053526..36055701-chr19:36117246..36119679,2	MCF-7	breast:
4	chr19:35756917..35760158-chr19:36118192..36121519,3	K562	blood:
5	chr19:36119325..36119902-chr6:25175515..25176489,2	Hela-S3	cervix:
6	chr19:36034987..36038890-chr19:36118307..36121069,4	MCF-7	breast:
7	chr19:36102330..36105424-chr19:36117998..36119603,3	MCF-7	breast:
8	chr19:36114642..36116458-chr19:36117906..36119551,2	MCF-7	breast:
9	chr19:36118103..36121861-chr19:36131558..36136331,8	MCF-7	breast:
10	chr19:36118147..36121531-chr19:36133247..36136800,5	MCF-7	breast:
11	chr19:36102107..36105519-chr19:36117943..36120957,6	MCF-7	breast:
12	chr19:36118346..36121729-chr19:36137061..36140850,4	MCF-7	breast:

Variant related genes	Relation type
RBM42	TF binding region
ENSG00000105698	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000126267	chromatin interactions
ENSG00000236144	chromatin interactions
ENSG00000249115	chromatin interactions
ENSG00000105672	chromatin interactions
ENSG00000105677	chromatin interactions
ENSG00000267626	chromatin interactions
ENSG00000105675	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369608565	chr19:36117686-36117687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78925304	chr19:36117698-36117699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs59679250	chr19:36117699-36117700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370829429	chr19:36117706-36117707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145810101	chr19:36117762-36117763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560965968	chr19:36117771-36117772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529993621	chr19:36117789-36117790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148569721	chr19:36117799-36117800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560008268	chr19:36117810-36117811	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532222833	chr19:36117823-36117824	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552066730	chr19:36117825-36117826	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142965906	chr19:36117833-36117834	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557508773	chr19:36117865-36117866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531323762	chr19:36117878-36117879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151123422	chr19:36117920-36117921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367944073	chr19:36117952-36117953	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113403422	chr19:36117957-36117958	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183262063	chr19:36118012-36118013	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs141448984	chr19:36118044-36118045	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs7252666	chr19:36118051-36118052	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553950054	chr19:36118090-36118091	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144950054	chr19:36118139-36118140	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs567147880	chr19:36118174-36118175	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs546502722	chr19:36118182-36118183	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs75437487	chr19:36118203-36118204	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs76140863	chr19:36118207-36118208	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs146789767	chr19:36118236-36118237	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs575763232	chr19:36118240-36118241	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs544380148	chr19:36118249-36118250	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs140609387	chr19:36118265-36118266	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs150440173	chr19:36118314-36118315	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs540232507	chr19:36118340-36118341	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs560046114	chr19:36118346-36118347	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs186382321	chr19:36118349-36118350	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs546045029	chr19:36118350-36118351	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs562563664	chr19:36118378-36118379	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs531487430	chr19:36118380-36118381	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs548344512	chr19:36118467-36118468	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs561762246	chr19:36118503-36118504	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs189950690	chr19:36118514-36118515	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs547398639	chr19:36118523-36118524	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs182277807	chr19:36118575-36118576	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs576521133	chr19:36118579-36118580	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs188140570	chr19:36118599-36118600	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs370153435	chr19:36118673-36118674	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs552786136	chr19:36118679-36118680	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs569364118	chr19:36118703-36118704	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs538447476	chr19:36118709-36118710	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs538427320	chr19:36118836-36118837	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs10439089	chr19:36118861-36118862	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36104200-36118800	Weak transcription	Left Ventricle	heart
2	chr19:36104200-36119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:36104200-36119000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:36104200-36119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36104200-36119000	Weak transcription	Colonic Mucosa	Colon
6	chr19:36104200-36119000	Weak transcription	Psoas Muscle	Psoas
7	chr19:36104200-36119000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:36104200-36119000	Weak transcription	HSMMtube	muscle
9	chr19:36104200-36119200	Weak transcription	Aorta	Aorta
10	chr19:36104400-36118800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:36104400-36118800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:36104400-36118800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:36104400-36118800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:36104400-36119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:36104400-36119000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:36104400-36119000	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:36104400-36119000	Weak transcription	Small Intestine	intestine
18	chr19:36104400-36119000	Weak transcription	HSMM	muscle
19	chr19:36104400-36119000	Weak transcription	HUVEC	blood vessel
20	chr19:36104400-36119000	Weak transcription	NHDF-Ad	bronchial
21	chr19:36104400-36119000	Weak transcription	Osteobl	bone
22	chr19:36104400-36119200	Weak transcription	NH-A	brain
23	chr19:36104800-36119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:36104800-36119000	Weak transcription	K562	blood
25	chr19:36104800-36119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:36104800-36119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:36107400-36118600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:36108000-36119000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:36108200-36118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:36108800-36118800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:36108800-36119000	Weak transcription	GM12878-XiMat	blood
32	chr19:36108800-36119000	Weak transcription	NHEK	skin
33	chr19:36109200-36119000	Weak transcription	HMEC	breast
34	chr19:36110000-36119000	Weak transcription	Right Ventricle	heart
35	chr19:36110200-36119200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:36110600-36118800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:36111600-36118800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:36111800-36118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:36111800-36118800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:36111800-36119000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:36111800-36119000	Weak transcription	Adipose Nuclei	Adipose
42	chr19:36111800-36119000	Weak transcription	Brain Angular Gyrus	brain
43	chr19:36111800-36119000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:36111800-36119000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:36111800-36119000	Weak transcription	Brain Substantia Nigra	brain
46	chr19:36111800-36119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:36111800-36119000	Weak transcription	Lung	lung
48	chr19:36111800-36119000	Weak transcription	Pancreas	Pancrea
49	chr19:36111800-36119200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:36112000-36118600	Weak transcription	Primary T cells fromperipheralblood	blood

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