Variant report

Variant	esv3693321
Chromosome Location	chr1:170167702-170188648
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	BATF	chr1:170183837-170184057	GM12878	blood:	n/a	n/a
2	BCL11A	chr1:170183266-170183516	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:170183226-170184154	GM12878	blood:	n/a	n/a
4	CEBPB	chr1:170178778-170179043	IMR90	lung:	n/a	n/a
5	CHD1	chr1:170183605-170184101	GM12878	blood:	n/a	n/a
6	CHD2	chr1:170183193-170184139	GM12878	blood:	n/a	n/a
7	CTCF	chr1:170169982-170170053	GM12878	blood:	n/a	n/a
8	CTCF	chr1:170169960-170170110	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr1:170169960-170170110	HPF	lung:	n/a	n/a
10	CTCF	chr1:170169987-170170024	ProgFib	skin:	n/a	n/a
11	CTCF	chr1:170169980-170170130	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr1:170169960-170170110	HCFaa	heart:	n/a	n/a
13	CTCF	chr1:170169920-170170070	AG04449	skin:	n/a	n/a
14	CTCF	chr1:170169940-170170090	AG09309	skin:	n/a	n/a
15	CTCF	chr1:170169920-170170070	HPF	lung:	n/a	n/a
16	CTCF	chr1:170183473-170183520	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:170169980-170170130	NHLF	lung:	n/a	n/a
18	CTCF	chr1:170169940-170170090	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr1:170169920-170170070	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr1:170169980-170170130	HMF	breast:	n/a	n/a
21	CTCF	chr1:170169941-170170039	Fibrobl	skin:	n/a	n/a
22	CTCF	chr1:170169900-170170050	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr1:170169920-170170070	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr1:170169940-170170090	AG10803	skin:	n/a	n/a
25	CTCF	chr1:170169938-170170088	Gliobla	brain:	n/a	n/a
26	CTCF	chr1:170169940-170170090	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr1:170169940-170170090	AG04449	skin:	n/a	n/a
28	CTCF	chr1:170169900-170170050	HFF	foreskin:	n/a	n/a
29	CTCF	chr1:170169960-170170110	HAc	cerebellar:	n/a	n/a
30	CTCF	chr1:170169920-170170070	HCM	heart:	n/a	n/a
31	CTCF	chr1:170169940-170170090	HMF	breast:	n/a	n/a
32	CTCF	chr1:170169920-170170070	RPTEC	kidney:	n/a	n/a
33	CTCF	chr1:170169940-170170090	HCM	heart:	n/a	n/a
34	CTCF	chr1:170169940-170170090	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr1:170169980-170170130	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr1:170169960-170170110	AG10803	skin:	n/a	n/a
37	CTCF	chr1:170169960-170170110	AG09319	gingival:	n/a	n/a
38	CTCF	chr1:170169940-170170090	AG09319	gingival:	n/a	n/a
39	CUX1	chr1:170183606-170183758	GM12878	blood:	n/a	n/a
40	E2F4	chr1:170187239-170187242	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr1:170184811-170184982	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr1:170183226-170184063	GM12878	blood:	n/a	n/a
43	EBF1	chr1:170173462-170173602	GM12878	blood:	n/a	n/a
44	EP300	chr1:170183562-170183913	GM12878	blood:	n/a	n/a
45	EP300	chr1:170183110-170184078	GM12878	blood:	n/a	chr1:170183497-170183513
46	EP300	chr1:170172865-170173916	SK-N-SH	brain:	n/a	chr1:170173690-170173704 chr1:170173691-170173705 chr1:170173684-170173698 chr1:170172926-170172940 chr1:170173689-170173703 chr1:170173688-170173702
47	EP300	chr1:170183234-170183955	GM12878	blood:	n/a	chr1:170183497-170183513
48	EP300	chr1:170173161-170173802	SK-N-SH	brain:	n/a	chr1:170173690-170173704 chr1:170173691-170173705 chr1:170173684-170173698 chr1:170173689-170173703 chr1:170173688-170173702
49	EP300	chr1:170173212-170173605	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr1:170173207-170173631	SK-N-SH_RA	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL11B-1	chr1:170182572-170182614	NONHSAT007492
2	lnc-KIFAP3-4	chr1:170180151-170180598	NONHSAT007493

Variant related genes	Relation type
ISCUP1	TF binding region

Extended variants
information (count: 826 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17349942	chr1:170167702-170167703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543512642	chr1:170167729-170167730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549557115	chr1:170167829-170167830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150752541	chr1:170167866-170167867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537172267	chr1:170167885-170167886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564245879	chr1:170167931-170167932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78968813	chr1:170167937-170167938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7541175	chr1:170167941-170167942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573156632	chr1:170167972-170167973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533962535	chr1:170167990-170167991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555790092	chr1:170167996-170167997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534832623	chr1:170168020-170168021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372364440	chr1:170168024-170168025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574172209	chr1:170168027-170168028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35231419	chr1:170168031-170168032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544762168	chr1:170168089-170168090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563048242	chr1:170168105-170168106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10494483	chr1:170168134-170168135	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545646645	chr1:170168146-170168147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192108000	chr1:170168153-170168154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7518785	chr1:170168182-170168183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs560074563	chr1:170168185-170168186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185012721	chr1:170168238-170168239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560981737	chr1:170168242-170168243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528306384	chr1:170168246-170168247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531304158	chr1:170168247-170168248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549493837	chr1:170168299-170168300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571095329	chr1:170168348-170168349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7518981	chr1:170168366-170168367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542846529	chr1:170168428-170168429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547641885	chr1:170168429-170168430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12135815	chr1:170168487-170168488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs1360292	chr1:170168490-170168491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555472423	chr1:170168496-170168497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575269025	chr1:170168509-170168510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567690021	chr1:170168522-170168523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190206188	chr1:170168579-170168580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143379293	chr1:170168582-170168583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578194621	chr1:170168599-170168600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139004456	chr1:170168614-170168615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554407478	chr1:170168616-170168617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182331394	chr1:170168631-170168632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74122317	chr1:170168671-170168672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187286290	chr1:170168678-170168679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531241719	chr1:170168681-170168682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543080982	chr1:170168717-170168718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376001596	chr1:170168724-170168725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564660213	chr1:170168727-170168728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532287356	chr1:170168757-170168758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547264808	chr1:170168760-170168761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170161400-170168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:170164600-170169400	Weak transcription	Osteobl	bone
3	chr1:170165200-170169400	Weak transcription	NHDF-Ad	bronchial
4	chr1:170166200-170168200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:170166200-170169000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:170166200-170169400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:170166200-170169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:170167200-170168000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:170167400-170168400	Enhancers	Pancreas	Pancrea
10	chr1:170168000-170168400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:170168000-170168400	Enhancers	Liver	Liver
12	chr1:170168000-170169000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:170168200-170171600	Enhancers	Fetal Muscle Leg	muscle
14	chr1:170168400-170170200	Weak transcription	Liver	Liver
15	chr1:170168600-170169800	Enhancers	Adipose Nuclei	Adipose
16	chr1:170169000-170169400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:170169000-170169600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:170169000-170170400	Enhancers	Fetal Heart	heart
19	chr1:170169000-170170400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:170169400-170169600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:170169400-170169600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:170169400-170169800	Enhancers	Osteobl	bone
23	chr1:170169400-170170600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:170169400-170170600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:170169400-170170600	Enhancers	Fetal Stomach	stomach
26	chr1:170169400-170171400	Enhancers	NHDF-Ad	bronchial
27	chr1:170169600-170170000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:170169600-170170200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:170169600-170170600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:170169800-170170000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:170169800-170170000	Flanking Active TSS	HSMMtube	muscle
32	chr1:170169800-170170200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:170169800-170170200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:170169800-170170200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:170169800-170170200	Active TSS	Stomach Smooth Muscle	stomach
36	chr1:170169800-170170200	Flanking Active TSS	Osteobl	bone
37	chr1:170169800-170170400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:170169800-170170400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:170169800-170171000	Enhancers	Ovary	ovary
40	chr1:170170000-170170400	Enhancers	HSMMtube	muscle
41	chr1:170170000-170173000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:170170200-170170600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:170170200-170170600	Enhancers	Liver	Liver
44	chr1:170170200-170170600	Enhancers	Osteobl	bone
45	chr1:170170200-170171000	Enhancers	Adipose Nuclei	Adipose
46	chr1:170170200-170171200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:170170400-170172400	Weak transcription	Fetal Heart	heart
48	chr1:170170600-170171600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:170170600-170173000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:170170600-170174200	Weak transcription	Osteobl	bone

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