Variant report

Variant	esv3419871
Chromosome Location	chr1:169588028-169592726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:169589731-169590206	GM12878	blood:	n/a	n/a
2	BCL3	chr1:169589840-169590238	GM12878	blood:	n/a	n/a
3	CTCF	chr1:169590307-169590387	GM19239	blood:	n/a	n/a
4	CTCF	chr1:169590747-169590781	GM19239	blood:	n/a	n/a
5	CTCF	chr1:169590360-169590510	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr1:169590445-169590662	GM19239	blood:	n/a	n/a
7	CTCF	chr1:169590015-169590103	GM19239	blood:	n/a	n/a
8	CTCF	chr1:169590665-169590720	ProgFib	skin:	n/a	n/a
9	CTCF	chr1:169590400-169590550	K562	blood:	n/a	n/a
10	FOS	chr1:169587644-169588079	HUVEC	blood vessel:	n/a	chr1:169587845-169587856
11	MYC	chr1:169590625-169590631	MCF-7	breast:	n/a	n/a
12	MYC	chr1:169590637-169590668	MCF-7	breast:	n/a	n/a
13	MYC	chr1:169589992-169590001	MCF-7	breast:	n/a	n/a
14	MYC	chr1:169590363-169590460	MCF-7	breast:	n/a	n/a
15	MYC	chr1:169590506-169590757	MCF-7	breast:	n/a	n/a
16	MYC	chr1:169590406-169590607	MCF-7	breast:	n/a	n/a
17	MYC	chr1:169589937-169589940	MCF-7	breast:	n/a	n/a
18	MYC	chr1:169589941-169590037	MCF-7	breast:	n/a	n/a
19	MYC	chr1:169590423-169590640	MCF-7	breast:	n/a	n/a
20	MYC	chr1:169590469-169590483	MCF-7	breast:	n/a	n/a
21	NFATC1	chr1:169589776-169590174	GM12878	blood:	n/a	n/a
22	NR2C2	chr1:169589804-169590804	GM12878	blood:	n/a	n/a
23	PBX3	chr1:169589831-169590176	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:169589901-169590159	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:169589919-169590649	A549	lung:	n/a	n/a
26	POLR2A	chr1:169590299-169590512	Gliobla	brain:	n/a	n/a
27	POLR2A	chr1:169589911-169590181	MCF-7	breast:	n/a	n/a
28	POLR2A	chr1:169590273-169590800	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:169590528-169590574	HepG2	liver:	n/a	n/a
30	SUZ12	chr1:169590353-169590689	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF7L2	chr1:169589905-169590284	Hela-S3	cervix:	n/a	n/a
32	ZNF384	chr1:169589531-169589731	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169589557-169589607	SKMC	muscle:	n/a
2	chr1:169589557-169589607	HL-60	blood:	n/a
3	chr1:169589557-169589607	NB4	blood:	n/a
4	chr1:169589557-169589607	A549	lung:	n/a
5	chr1:169589557-169589607	HCPEpiC	choroid plexus:	n/a
6	chr1:169589557-169589607	HEEpiC	esophagus:	n/a
7	chr1:169589557-169589607	CMK	blood:	n/a
8	chr1:169589557-169589607	HCT-116	colon:	n/a
9	chr1:169589557-169589607	HRE	kidney:	n/a
10	chr1:169589557-169589607	NH-A	brain:	n/a
11	chr1:169589557-169589607	Hela-S3	cervix:	n/a
12	chr1:169589557-169589607	HUVEC	blood vessel:	n/a
13	chr1:169589557-169589607	Caco-2	colon:	n/a
14	chr1:169589557-169589607	PrEC	prostate:	n/a
15	chr1:169589557-169589607	T-47D	breast:	n/a
16	chr1:169589557-169589607	BE2_C	brain:	n/a
17	chr1:169589557-169589607	H1-hESC	embryonic stem cell:	embryo
18	chr1:169589557-169589607	HNPCEpiC	eye:	n/a
19	chr1:169589557-169589607	SK-N-SH_RA	brain:	n/a
20	chr1:169589557-169589607	HEK293	kidney:	embryo
21	chr1:169589557-169589607	HepG2	liver:	n/a
22	chr1:169589557-169589607	MCF-7	breast:	n/a
23	chr1:169589557-169589607	Jurkat	blood:	n/a
24	chr1:169589557-169589607	GM12878	blood:	n/a
25	chr1:169589557-169589607	AG10803	skin:	n/a
26	chr1:169589557-169589607	AoSMC	blood vessel:	n/a
27	chr1:169589557-169589607	ovcar-3	ovarian:	n/a
28	chr1:169589557-169589607	GM12892	blood:	n/a
29	chr1:169589557-169589607	K562	blood:	n/a
30	chr1:169589557-169589607	MCF10A-Er-Src	breast:	n/a
31	chr1:169589557-169589607	AG09309	skin:	n/a
32	chr1:169589557-169589607	LNCaP	prostate:	n/a
33	chr1:169589557-169589607	IMR90	lung:	fetal
34	chr1:169589557-169589607	GM19239	blood:	n/a
35	chr1:169589557-169589607	BJ	skin:	n/a
36	chr1:169589557-169589607	U87	brain:	n/a
37	chr1:169589557-169589607	HIPEpiC	eye:	n/a
38	chr1:169589557-169589607	GM06990	blood:	n/a
39	chr1:169589557-169589607	RPTEC	kidney:	n/a
40	chr1:169589557-169589607	AG04449	skin:	fetal
41	chr1:169589557-169589607	HRPEpiC	eye:	n/a
42	chr1:169589557-169589607	NT2-D1	testis:	n/a
43	chr1:169589557-169589607	ECC-1	luminal epithelium:	n/a
44	chr1:169589557-169589607	PFSK-1	brain:	n/a
45	chr1:169589557-169589607	HAEpiC	amniotic membrane:	n/a
46	chr1:169589557-169589607	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:169589557-169589607	GM12891	blood:	n/a
48	chr1:169589557-169589607	HRCEpiC	kidney:	n/a
49	chr1:169589557-169589607	HCM	heart:	n/a
50	chr1:169589557-169589607	HMEC	breast:	n/a

No data

Variant related genes	Relation type
SELP	TF binding region
SELP	CpG island

Extended variants
information (count: 185 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12022109	chr1:169588028-169588029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3917699	chr1:169588103-169588104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552255000	chr1:169588110-169588111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76361590	chr1:169588115-169588116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3917698	chr1:169588117-169588118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368456807	chr1:169588129-169588130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532426434	chr1:169588130-169588131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112072136	chr1:169588136-169588137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3917864	chr1:169588147-169588148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566181600	chr1:169588161-169588162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144160223	chr1:169588162-169588163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193142139	chr1:169588180-169588181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3917697	chr1:169588221-169588222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184467816	chr1:169588232-169588233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3917696	chr1:169588354-169588355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558249236	chr1:169588371-169588372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149590582	chr1:169588398-169588399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369367564	chr1:169588403-169588404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201274608	chr1:169588415-169588416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147232330	chr1:169588419-169588420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570140322	chr1:169588499-169588500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142170818	chr1:169588501-169588502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201819885	chr1:169588505-169588506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111925564	chr1:169588567-169588568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187981961	chr1:169588579-169588580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542010120	chr1:169588656-169588657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374925579	chr1:169588692-169588693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575372807	chr1:169588697-169588698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575633521	chr1:169588800-169588801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546307875	chr1:169588895-169588896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564470474	chr1:169588905-169588906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191337165	chr1:169588911-169588912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540639352	chr1:169588991-169588992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151206111	chr1:169589062-169589063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538963507	chr1:169589070-169589071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561199294	chr1:169589112-169589113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183876950	chr1:169589160-169589161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569869707	chr1:169589163-169589164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188654692	chr1:169589164-169589165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3917695	chr1:169589215-169589216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114711583	chr1:169589305-169589306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3917694	chr1:169589309-169589310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552552669	chr1:169589347-169589348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3917693	chr1:169589370-169589371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536181367	chr1:169589371-169589372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3917692	chr1:169589385-169589386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140814832	chr1:169589393-169589394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551855380	chr1:169589424-169589425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529372799	chr1:169589427-169589428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375557656	chr1:169589434-169589435	Weak transcription	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169584200-169592600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:169585200-169593400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:169585400-169592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:169585600-169592200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:169586600-169589800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:169587200-169588600	Enhancers	HUVEC	blood vessel
7	chr1:169587400-169589800	Weak transcription	Lung	lung
8	chr1:169587600-169588200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:169587600-169588400	Enhancers	Primary T cells from cord blood	blood
10	chr1:169587600-169588400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:169587800-169588400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:169588200-169588600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:169588400-169590600	Weak transcription	Primary T cells from cord blood	blood
14	chr1:169588400-169591600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:169588600-169588800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:169588600-169592200	Weak transcription	HUVEC	blood vessel
17	chr1:169588800-169592200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:169589800-169590000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:169589800-169590000	Enhancers	Pancreas	Pancrea
20	chr1:169589800-169590000	Enhancers	Dnd41	blood
21	chr1:169589800-169590800	Enhancers	Lung	lung
22	chr1:169590000-169590200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:169590000-169590200	Enhancers	Esophagus	oesophagus
24	chr1:169590000-169590200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr1:169590000-169590600	Weak transcription	Dnd41	blood
26	chr1:169590000-169590800	ZNF genes & repeats	Pancreas	Pancrea
27	chr1:169590200-169590800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:169590200-169590800	ZNF genes & repeats	Esophagus	oesophagus
29	chr1:169590600-169591000	Enhancers	Primary T cells from cord blood	blood
30	chr1:169590600-169593600	Enhancers	Dnd41	blood
31	chr1:169590800-169595200	Weak transcription	Lung	lung
32	chr1:169591000-169592200	Weak transcription	Primary T cells from cord blood	blood
33	chr1:169591600-169599600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:169592200-169594200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:169592200-169594600	Enhancers	HUVEC	blood vessel
36	chr1:169592200-169594800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:169592200-169595600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:169592200-169597600	Enhancers	Primary T cells from cord blood	blood
39	chr1:169592200-169598400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:169592200-169599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:169592200-169599600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:169592200-169599800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:169592400-169592600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:169592400-169593200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:169592400-169593200	Enhancers	Thymus	Thymus
46	chr1:169592400-169593600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:169592400-169595000	Enhancers	Fetal Thymus	thymus
48	chr1:169592400-169596000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:169592600-169593600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:169592600-169594200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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