Variant report

Variant	esv3399499
Chromosome Location	chr1:246074488-246122311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246119639-246119734	K562	blood:	n/a	n/a
2	ATF1	chr1:246119591-246119937	K562	blood:	n/a	n/a
3	BACH1	chr1:246117937-246117957	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:246106369-246106426	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:246119570-246119851	K562	blood:	n/a	n/a
6	BHLHE40	chr1:246078137-246078147	GM12878	blood:	n/a	n/a
7	CEBPB	chr1:246086677-246086797	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr1:246108775-246108982	IMR90	lung:	n/a	chr1:246108842-246108853
9	CEBPB	chr1:246083885-246083973	K562	blood:	n/a	n/a
10	CEBPB	chr1:246088729-246089045	HepG2	liver:	n/a	chr1:246088872-246088883
11	CEBPB	chr1:246083862-246084007	IMR90	lung:	n/a	n/a
12	CEBPB	chr1:246088793-246089002	IMR90	lung:	n/a	chr1:246088872-246088883
13	CEBPB	chr1:246083865-246084006	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:246108735-246108972	K562	blood:	n/a	chr1:246108842-246108853
15	CEBPB	chr1:246108670-246109007	HepG2	liver:	n/a	chr1:246108842-246108853
16	CEBPB	chr1:246083860-246084000	A549	lung:	n/a	n/a
17	CEBPB	chr1:246088794-246088959	K562	blood:	n/a	chr1:246088872-246088883
18	CHD1	chr1:246117030-246117237	GM12878	blood:	n/a	n/a
19	CHD2	chr1:246116860-246117182	GM12878	blood:	n/a	n/a
20	CTCF	chr1:246086664-246086692	LNCaP	prostate:	n/a	n/a
21	CTCF	chr1:246086645-246086793	K562	blood:	n/a	n/a
22	CTCF	chr1:246086700-246086850	NB4	blood:	n/a	n/a
23	CTCF	chr1:246104181-246104216	GM10248	blood:	n/a	n/a
24	CTCF	chr1:246086540-246086690	Caco-2	colon:	n/a	n/a
25	CTCF	chr1:246086720-246086870	BE2_C	brain:	n/a	n/a
26	CTCF	chr1:246086641-246086777	HepG2	liver:	n/a	n/a
27	CTCF	chr1:246121720-246121870	BE2_C	brain:	n/a	n/a
28	CTCF	chr1:246091395-246091438	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr1:246091435-246091455	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:246086584-246086747	HepG2	liver:	n/a	n/a
31	CTCF	chr1:246086620-246086770	HepG2	liver:	n/a	n/a
32	CTCF	chr1:246086574-246086792	K562	blood:	n/a	n/a
33	CTCF	chr1:246086620-246086770	A549	lung:	n/a	n/a
34	CUX1	chr1:246096952-246097003	K562	blood:	n/a	n/a
35	CUX1	chr1:246115736-246116375	GM12878	blood:	n/a	n/a
36	CUX1	chr1:246105954-246106062	GM12878	blood:	n/a	n/a
37	CUX1	chr1:246119671-246119678	K562	blood:	n/a	n/a
38	E2F4	chr1:246084753-246084938	MCF10A-Er-Src	breast:	n/a	n/a
39	EBF1	chr1:246106120-246106229	GM12878	blood:	n/a	n/a
40	EBF1	chr1:246116880-246117626	GM12878	blood:	n/a	n/a
41	EBF1	chr1:246115807-246116599	GM12878	blood:	n/a	chr1:246116442-246116453
42	ELF1	chr1:246117712-246117990	GM12878	blood:	n/a	n/a
43	EP300	chr1:246117879-246118012	GM12878	blood:	n/a	n/a
44	EP300	chr1:246116841-246117676	GM12878	blood:	n/a	chr1:246117316-246117330 chr1:246117396-246117404 chr1:246117039-246117049 chr1:246117650-246117664
45	EP300	chr1:246119680-246119756	K562	blood:	n/a	n/a
46	FOS	chr1:246119473-246119855	HUVEC	blood vessel:	n/a	chr1:246119623-246119634
47	FOS	chr1:246100812-246100925	MCF10A-Er-Src	breast:	n/a	chr1:246100874-246100883
48	FOXA1	chr1:246117432-246117739	T-47D	breast:	n/a	chr1:246117578-246117593
49	FOXA1	chr1:246086448-246086777	HepG2	liver:	n/a	n/a
50	FOXA1	chr1:246117311-246117812	T-47D	breast:	n/a	chr1:246117578-246117593

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246094959..246097545-chr1:246099150..246101600,2	K562	blood:
2	chr1:246097362..246099359-chr1:246107720..246109478,2	K562	blood:
3	chr1:246109012..246112867-chr1:246113941..246115996,3	K562	blood:
4	chr1:246103272..246104778-chr1:246108498..246111174,2	K562	blood:
5	chr1:246083217..246085349-chr1:246087936..246090137,2	K562	blood:
6	chr1:246115282..246117268-chr20:9203309..9206054,2	MCF-7	breast:
7	chr1:246109012..246111892-chr1:246114019..246115996,2	K562	blood:
8	chr1:246094959..246097545-chr1:246099150..246101600,2	K562	blood:
9	chr1:246083078..246084717-chr1:246087936..246089781,2	K562	blood:
10	chr1:246109012..246111892-chr1:246114019..246115996,2	K562	blood:
11	chr1:246083078..246084717-chr1:246087936..246089781,2	K562	blood:
12	chr1:246097362..246099359-chr1:246107720..246109478,2	K562	blood:
13	chr1:246113571..246115154-chr1:246143779..246145681,2	K562	blood:
14	chr1:246114942..246117508-chr1:246123579..246126563,3	K562	blood:
15	chr1:246083217..246085349-chr1:246087936..246090137,2	K562	blood:
16	chr1:246103272..246104778-chr1:246108498..246111174,2	K562	blood:
17	chr1:246109012..246112867-chr1:246113941..246115996,3	K562	blood:
18	chr1:246115508..246118574-chr1:246120452..246123477,3	K562	blood:
19	chr1:246115508..246118574-chr1:246120452..246123477,3	K562	blood:

No data

Variant related genes	Relation type
SMYD3	TF binding region

Extended variants
information (count: 2070 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2070 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544031327	chr1:246074496-246074497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1953753	chr1:246074519-246074520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574249652	chr1:246074527-246074528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180912851	chr1:246074626-246074627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559740842	chr1:246074631-246074632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186213574	chr1:246074660-246074661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370028624	chr1:246074661-246074662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79785674	chr1:246074662-246074663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148884347	chr1:246074665-246074666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372791525	chr1:246074700-246074701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79510603	chr1:246074736-246074737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567370638	chr1:246074761-246074762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536107698	chr1:246074784-246074785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546494356	chr1:246074797-246074798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34832589	chr1:246074798-246074799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149802724	chr1:246074799-246074800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566128603	chr1:246074808-246074809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566245841	chr1:246074810-246074811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539567873	chr1:246074812-246074813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71299008	chr1:246074813-246074814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201911451	chr1:246074814-246074815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143281570	chr1:246074820-246074821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568964217	chr1:246074824-246074825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368836559	chr1:246074864-246074865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151285688	chr1:246074876-246074877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557881851	chr1:246074892-246074893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574158994	chr1:246074928-246074929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372899354	chr1:246074929-246074930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58355982	chr1:246074959-246074960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191890153	chr1:246074979-246074980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573263319	chr1:246074996-246074997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537003913	chr1:246075002-246075003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545452034	chr1:246075018-246075019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140445927	chr1:246075059-246075060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531005313	chr1:246075121-246075122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114966809	chr1:246075141-246075142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183553983	chr1:246075187-246075188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529886818	chr1:246075199-246075200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147024571	chr1:246075307-246075308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566465824	chr1:246075381-246075382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1577988	chr1:246075404-246075405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186057110	chr1:246075406-246075407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371512749	chr1:246075455-246075456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1577989	chr1:246075462-246075463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190672942	chr1:246075495-246075496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554367605	chr1:246075513-246075514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11580002	chr1:246075523-246075524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182575721	chr1:246075555-246075556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536886060	chr1:246075567-246075568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553685043	chr1:246075574-246075575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246039200-246080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:246045200-246095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:246055400-246077600	Weak transcription	Primary B cells from cord blood	blood
4	chr1:246056600-246089200	Weak transcription	Ovary	ovary
5	chr1:246058800-246094200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:246059200-246090600	Weak transcription	Osteobl	bone
7	chr1:246062200-246077800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:246063400-246077000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:246065200-246091800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:246065800-246090600	Weak transcription	Spleen	Spleen
11	chr1:246067200-246101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:246068000-246092600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:246068600-246090600	Weak transcription	Lung	lung
14	chr1:246069000-246077600	Weak transcription	K562	blood
15	chr1:246069000-246097200	Weak transcription	Primary T cells from cord blood	blood
16	chr1:246069000-246111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:246072200-246077400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:246075800-246077600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:246076200-246077400	Weak transcription	Adipose Nuclei	Adipose
20	chr1:246076400-246079600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:246077000-246078000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:246077000-246079400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:246077200-246092400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:246077400-246078400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:246077400-246078800	Weak transcription	Pancreas	Pancrea
26	chr1:246077600-246077800	Weak transcription	Aorta	Aorta
27	chr1:246077600-246078000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:246077600-246078400	Strong transcription	Primary B cells from cord blood	blood
29	chr1:246077600-246078800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:246077600-246079200	Strong transcription	K562	blood
31	chr1:246077600-246080600	Weak transcription	Adipose Nuclei	Adipose
32	chr1:246077800-246078000	ZNF genes & repeats	Aorta	Aorta
33	chr1:246077800-246079000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:246077800-246080400	Weak transcription	NHDF-Ad	bronchial
35	chr1:246078000-246084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:246078000-246087000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:246078000-246090200	Weak transcription	Aorta	Aorta
38	chr1:246078000-246092000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:246078200-246090600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:246078400-246084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:246078400-246094400	Weak transcription	Primary B cells from cord blood	blood
42	chr1:246078600-246079800	Enhancers	Fetal Brain Female	brain
43	chr1:246078800-246079000	ZNF genes & repeats	Pancreas	Pancrea
44	chr1:246078800-246080400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:246079000-246081200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:246079000-246082200	Weak transcription	Pancreas	Pancrea
47	chr1:246079200-246081200	Weak transcription	K562	blood
48	chr1:246081200-246081600	Enhancers	Right Atrium	heart
49	chr1:246081200-246087600	Strong transcription	K562	blood
50	chr1:246083000-246103000	Weak transcription	HSMM	muscle

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