Variant report

Variant	esv32912
Chromosome Location	chr1:158980839-158981567
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	chr1:158979270-158981129	Hela-S3	cervix:	n/a	n/a
2	CHD1	chr1:158978577-158980909	GM12878	blood:	n/a	n/a
3	CHD1	chr1:158981505-158983902	GM12878	blood:	n/a	n/a
4	MXI1	chr1:158981482-158981836	GM12878	blood:	n/a	n/a
5	MXI1	chr1:158978956-158981134	IMR90	lung:	n/a	n/a
6	MYC	chr1:158979212-158981075	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr1:158981291-158981794	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:158980849-158981164	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:158978464-158986840	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:158978350-158987224	GM18505	blood:	n/a	n/a
11	POLR2A	chr1:158978242-158981066	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:158981445-158981927	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:158978152-158981228	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:158978846-158980839	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr1:158980780-158981225	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:158978442-158980954	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:158978475-158987184	GM19099	blood:	n/a	n/a
18	POLR2A	chr1:158979221-158981212	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:158978459-158981042	GM15510	blood:	n/a	n/a
20	POLR2A	chr1:158979136-158980852	U87	brain:	n/a	n/a
21	POLR2A	chr1:158980779-158981142	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:158981523-158987265	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:158978710-158981534	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:158980884-158981133	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:158981297-158987303	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:158979224-158982774	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:158980862-158981117	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:158978384-158985943	GM19193	blood:	n/a	n/a
29	POLR2A	chr1:158978391-158981364	GM12878	blood:	n/a	n/a
30	STAT3	chr1:158978935-158980925	MCF10A-Er-Src	breast:	n/a	chr1:158979842-158979853 chr1:158979355-158979364
31	TBP	chr1:158979176-158980905	Hela-S3	cervix:	n/a	n/a
32	WRNIP1	chr1:158980853-158980940	GM12878	blood:	n/a	n/a
33	WRNIP1	chr1:158981178-158981222	GM12878	blood:	n/a	n/a
34	ZNF384	chr1:158981066-158981260	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158980102..158980980-chr7:91467247..91467748,2	Hela-S3	cervix:
2	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
ENSG00000163568	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73021847	chr1:158980874-158980875	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34943291	chr1:158980889-158980890	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546875175	chr1:158980903-158980904	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35239621	chr1:158980921-158980922	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34540201	chr1:158980926-158980927	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183852252	chr1:158980944-158980945	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539074611	chr1:158980961-158980962	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557373798	chr1:158980964-158980965	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549450189	chr1:158981031-158981032	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575676417	chr1:158981068-158981069	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543079465	chr1:158981096-158981097	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188619238	chr1:158981114-158981115	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12076572	chr1:158981122-158981123	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540036904	chr1:158981134-158981135	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181369139	chr1:158981137-158981138	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs67588505	chr1:158981173-158981174	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376122159	chr1:158981187-158981188	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200396722	chr1:158981188-158981189	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532259556	chr1:158981206-158981207	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561965650	chr1:158981218-158981219	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1361566	chr1:158981222-158981223	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs140853922	chr1:158981226-158981227	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150426343	chr1:158981254-158981255	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567768030	chr1:158981294-158981295	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551681473	chr1:158981327-158981328	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs147210627	chr1:158981387-158981388	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200230594	chr1:158981457-158981458	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs66817659	chr1:158981458-158981459	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs55904319	chr1:158981459-158981460	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs537325410	chr1:158981539-158981540	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
2	chr1:158976000-159000800	Weak transcription	Gastric	stomach
3	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:158979000-158981200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:158979200-158981000	Active TSS	Aorta	Aorta
11	chr1:158979200-158981200	Active TSS	Colonic Mucosa	Colon
12	chr1:158979200-158981200	Active TSS	Psoas Muscle	Psoas
13	chr1:158979200-158982600	Active TSS	Fetal Stomach	stomach
14	chr1:158979200-158982800	Active TSS	NHLF	lung
15	chr1:158979200-158983200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:158979200-158983400	Active TSS	Right Atrium	heart
17	chr1:158979200-158984000	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:158979400-158981000	Active TSS	Brain Angular Gyrus	brain
19	chr1:158979400-158981000	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr1:158979400-158981000	Active TSS	Dnd41	blood
21	chr1:158979400-158981200	Active TSS	Fetal Intestine Small	intestine
22	chr1:158979400-158981200	Active TSS	Left Ventricle	heart
23	chr1:158979400-158981400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:158979400-158981600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:158979400-158981600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:158979400-158982000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:158979400-158982200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:158979400-158982200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:158979400-158982200	Active TSS	NHDF-Ad	bronchial
30	chr1:158979400-158982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:158979400-158982400	Active TSS	Fetal Kidney	kidney
32	chr1:158979400-158982400	Active TSS	Fetal Lung	lung
33	chr1:158979400-158982400	Active TSS	HSMM	muscle
34	chr1:158979400-158982400	Active TSS	HSMMtube	muscle
35	chr1:158979400-158982800	Active TSS	Fetal Intestine Large	intestine
36	chr1:158979400-158983000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:158979400-158983000	Active TSS	Primary T cells fromperipheralblood	blood
38	chr1:158979400-158983000	Active TSS	Ovary	ovary
39	chr1:158979400-158983000	Active TSS	Thymus	Thymus
40	chr1:158979400-158983200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:158979400-158983200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:158979400-158983400	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:158979400-158983600	Active TSS	Fetal Muscle Leg	muscle
44	chr1:158979400-158983600	Active TSS	Placenta	Placenta
45	chr1:158979400-158983800	Active TSS	Liver	Liver
46	chr1:158979400-158984000	Active TSS	Brain Hippocampus Middle	brain
47	chr1:158979400-158984000	Active TSS	GM12878-XiMat	blood
48	chr1:158979400-158984400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:158979400-158984400	Active TSS	Brain Anterior Caudate	brain
50	chr1:158979400-158984400	Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links