Variant report

Variant	esv15314
Chromosome Location	chr1:246946311-246946911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:246946225-246946826	HepG2	liver:	n/a	n/a
2	FOSL2	chr1:246946102-246946919	HepG2	liver:	n/a	n/a
3	FOXA1	chr1:246946300-246946837	HepG2	liver:	n/a	n/a
4	GABPA	chr1:246946410-246946804	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr1:246946349-246946694	HepG2	liver:	n/a	n/a
6	HEY1	chr1:246946228-246946847	HepG2	liver:	n/a	n/a
7	HEY1	chr1:246946372-246946755	K562	blood:	n/a	n/a
8	JUND	chr1:246946383-246946759	HepG2	liver:	n/a	n/a
9	MAX	chr1:246945430-246946342	NB4	blood:	n/a	n/a
10	NR3C1	chr1:246946178-246946880	A549	lung:	n/a	n/a
11	POLR2A	chr1:246946367-246946773	A549	lung:	n/a	n/a
12	POLR2A	chr1:246946132-246946837	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:246945463-246946330	HL-60	blood:	n/a	n/a
14	POLR2A	chr1:246946858-246946871	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:246946882-246946898	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:246946908-246947023	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:246945912-246946861	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:246946262-246946746	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:246945998-246946892	GM12891	blood:	n/a	n/a
20	POLR2A	chr1:246945328-246946442	HL-60	blood:	n/a	n/a
21	POLR2A	chr1:246945834-246946496	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr1:246946402-246946808	GM12892	blood:	n/a	n/a
23	POU2F2	chr1:246946325-246946785	GM12878	blood:	n/a	n/a
24	SP1	chr1:246946305-246946852	GM12878	blood:	n/a	n/a
25	SPI1	chr1:246946337-246946801	K562	blood:	n/a	n/a
26	ZBTB33	chr1:246946389-246946739	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246946643..246948588-chr1:247104112..247106785,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-1	chr1:246946701-246947345	NONHSAT010736

No data

Variant related genes	Relation type
KIF28P	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61852514	chr1:246946314-246946315	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61852515	chr1:246946330-246946331	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190779999	chr1:246946352-246946353	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369962107	chr1:246946361-246946362	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200767816	chr1:246946371-246946372	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372237475	chr1:246946376-246946377	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35812304	chr1:246946377-246946378	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57695616	chr1:246946381-246946382	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4926458	chr1:246946390-246946391	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528451684	chr1:246946394-246946395	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551504817	chr1:246946420-246946421	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369658231	chr1:246946434-246946435	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111419504	chr1:246946440-246946441	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112841668	chr1:246946446-246946447	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56314835	chr1:246946467-246946468	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77292684	chr1:246946486-246946487	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs76431992	chr1:246946492-246946493	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12750452	chr1:246946494-246946495	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12750456	chr1:246946500-246946501	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs79259099	chr1:246946501-246946502	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571540882	chr1:246946514-246946515	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs537375185	chr1:246946516-246946517	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77537201	chr1:246946528-246946529	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs12095557	chr1:246946532-246946533	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111973765	chr1:246946548-246946549	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs12121780	chr1:246946552-246946553	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113478048	chr1:246946554-246946555	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs10924828	chr1:246946568-246946569	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10924829	chr1:246946570-246946571	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs10924830	chr1:246946586-246946587	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112162705	chr1:246946602-246946603	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113570496	chr1:246946608-246946609	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112551970	chr1:246946640-246946641	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112122141	chr1:246946656-246946657	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs36099113	chr1:246946660-246946661	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs111260000	chr1:246946662-246946663	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs75284831	chr1:246946670-246946671	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112964207	chr1:246946694-246946695	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs147182514	chr1:246946704-246946705	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs12117050	chr1:246946730-246946731	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs12124503	chr1:246946732-246946733	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs113113157	chr1:246946747-246946748	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs61744980	chr1:246946748-246946749	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs76392696	chr1:246946767-246946768	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs573227536	chr1:246946768-246946769	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs567424663	chr1:246946778-246946779	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs536069414	chr1:246946787-246946788	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs143674536	chr1:246946802-246946803	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs370448807	chr1:246946852-246946853	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs10802443	chr1:246946856-246946857	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:246925200-246952200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:246932400-246952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:246932600-246948000	Strong transcription	Liver	Liver
6	chr1:246932600-246948600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:246932600-246948600	Weak transcription	Esophagus	oesophagus
8	chr1:246932800-246948800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:246932800-246952400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:246932800-246956400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:246938400-246947200	Strong transcription	Fetal Intestine Small	intestine
12	chr1:246940200-246947600	Weak transcription	HUVEC	blood vessel
13	chr1:246940200-246948800	Weak transcription	Fetal Brain Male	brain
14	chr1:246940400-246949000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:246940600-246948600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:246940600-246948800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:246940600-246948800	Weak transcription	Fetal Kidney	kidney
18	chr1:246940800-246948000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:246940800-246951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:246940800-246951600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:246941200-246948200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:246941200-246952600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:246941600-246948800	Weak transcription	Colonic Mucosa	Colon
24	chr1:246941600-246948800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:246941600-246952200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:246942200-246949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:246942800-246952200	Weak transcription	Fetal Brain Female	brain
28	chr1:246943000-246948000	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:246943400-246952000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:246944200-246947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:246944400-246948800	Weak transcription	Gastric	stomach
32	chr1:246944600-246946400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:246944600-246947800	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr1:246944600-246952200	Weak transcription	NH-A	brain
35	chr1:246944800-246946800	Weak transcription	Fetal Lung	lung
36	chr1:246944800-246947800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:246944800-246948200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:246944800-246952000	Weak transcription	Fetal Intestine Large	intestine
39	chr1:246944800-246952200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:246945000-246946400	Enhancers	HSMMtube	muscle
41	chr1:246945000-246946800	Weak transcription	Placenta	Placenta
42	chr1:246945000-246947000	Enhancers	HSMM	muscle
43	chr1:246945000-246948800	Weak transcription	Brain Germinal Matrix	brain
44	chr1:246945200-246946600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:246945200-246948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:246945200-246949400	Enhancers	Fetal Muscle Leg	muscle
47	chr1:246945600-246946400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr1:246945600-246946400	Enhancers	Fetal Heart	heart
49	chr1:246945600-246946400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr1:246945600-246946400	Flanking Active TSS	Thymus	Thymus

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