Variant report

Variant	nsv160017
Chromosome Location	chr1:226057382-226060403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226059063-226059080	HepG2	liver:	n/a	n/a
2	EP300	chr1:226058969-226059574	A549	lung:	n/a	n/a
3	FOS	chr1:226059918-226060104	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:226059238-226059437	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:226059792-226060183	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr1:226060023-226060030	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:226059182-226059485	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:226060002-226060180	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:226059181-226059436	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr1:226058978-226059588	A549	lung:	n/a	n/a
11	FOSL2	chr1:226059095-226059488	A549	lung:	n/a	n/a
12	FOSL2	chr1:226059141-226059487	HepG2	liver:	n/a	n/a
13	FOXA2	chr1:226058918-226059601	A549	lung:	n/a	n/a
14	FOXA2	chr1:226058941-226059666	A549	lung:	n/a	n/a
15	FOXA2	chr1:226059187-226059393	HepG2	liver:	n/a	n/a
16	GATA3	chr1:226058885-226059853	A549	lung:	n/a	n/a
17	GATA3	chr1:226058985-226059888	MCF-7	breast:	n/a	n/a
18	MAX	chr1:226059020-226059817	A549	lung:	n/a	chr1:226059049-226059058
19	MAX	chr1:226059104-226059546	A549	lung:	n/a	n/a
20	NR2F2	chr1:226058899-226059837	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:226059048-226059453	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr1:226058510-226058609	K562	blood:	n/a	n/a
23	POLR2A	chr1:226059625-226059703	ProgFib	skin:	n/a	n/a
24	POLR2A	chr1:226058778-226058780	K562	blood:	n/a	n/a
25	POLR2A	chr1:226058977-226059404	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr1:226059460-226059507	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:226058981-226059094	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:226058805-226058874	K562	blood:	n/a	n/a
29	POLR2A	chr1:226059227-226059228	K562	blood:	n/a	n/a
30	REST	chr1:226058980-226059426	A549	lung:	n/a	n/a
31	SIN3A	chr1:226059466-226059733	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr1:226058844-226059651	A549	lung:	n/a	n/a
33	SP1	chr1:226058918-226059600	A549	lung:	n/a	n/a
34	STAT3	chr1:226059199-226059466	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr1:226059202-226059468	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr1:226059213-226059482	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr1:226058760-226059800	A549	lung:	n/a	n/a
38	TCF7L2	chr1:226058932-226059290	MCF-7	breast:	n/a	n/a
39	TCF7L2	chr1:226058798-226059388	PANC-1	pancreas:	n/a	n/a
40	ZKSCAN1	chr1:226059394-226059396	Hela-S3	cervix:	n/a	n/a
41	ZNF143	chr1:226059468-226059755	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF384	chr1:226059746-226059768	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226057824..226059681-chr1:226108148..226109979,2	MCF-7	breast:
2	chr1:226060392..226063729-chr1:226110650..226113605,4	MCF-7	breast:
3	chr1:226054613..226057085-chr1:226059205..226061185,3	K562	blood:
4	chr1:226056196..226058584-chr1:226111610..226114032,2	MCF-7	breast:
5	chr1:226050607..226053487-chr1:226058918..226061086,2	K562	blood:
6	chr1:226054269..226057848-chr1:226069122..226072255,3	K562	blood:
7	chr1:226055732..226058409-chr1:226119393..226121117,2	K562	blood:
8	chr1:226060345..226063874-chr1:226111222..226114417,3	MCF-7	breast:
9	chr1:226058705..226061570-chr1:226062112..226065041,3	K562	blood:
10	chr1:226051272..226054495-chr1:226056953..226059287,3	MCF-7	breast:
11	chr1:226054600..226056714-chr1:226056820..226058465,2	MCF-7	breast:
12	chr1:226059449..226061032-chr1:226072512..226074332,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000143811	chromatin interactions
ENSG00000196187	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202018964	chr1:226057382-226057383	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373338254	chr1:226057384-226057385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566474344	chr1:226057410-226057411	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs61227102	chr1:226057464-226057465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549120903	chr1:226057492-226057493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567837188	chr1:226057503-226057504	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567349862	chr1:226057507-226057508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535913146	chr1:226057511-226057512	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs787602	chr1:226057523-226057524	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557504117	chr1:226057544-226057545	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569256657	chr1:226057563-226057564	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373827808	chr1:226057597-226057598	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539871149	chr1:226057619-226057620	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs367943643	chr1:226057640-226057641	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573524327	chr1:226057662-226057663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189180321	chr1:226057684-226057685	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555882657	chr1:226057690-226057691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs360088	chr1:226057691-226057692	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536247900	chr1:226057718-226057719	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371911027	chr1:226057722-226057723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562269810	chr1:226057762-226057763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377002012	chr1:226057772-226057773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532762218	chr1:226057773-226057774	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11808161	chr1:226057776-226057777	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112950033	chr1:226057789-226057790	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368335168	chr1:226057807-226057808	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs168618	chr1:226057816-226057817	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs805179	chr1:226057855-226057856	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375413472	chr1:226057906-226057907	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192873715	chr1:226057909-226057910	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558354248	chr1:226057921-226057922	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184691632	chr1:226057940-226057941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188670168	chr1:226057945-226057946	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191797215	chr1:226057956-226057957	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11586999	chr1:226057977-226057978	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs168619	chr1:226057984-226057985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539836604	chr1:226058031-226058032	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs202153235	chr1:226058052-226058053	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79487654	chr1:226058071-226058072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371006	chr1:226058089-226058090	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs3841810	chr1:226058145-226058146	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1022262	chr1:226058150-226058151	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs78344397	chr1:226058151-226058152	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555802855	chr1:226058153-226058154	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375053363	chr1:226058215-226058216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113649116	chr1:226058242-226058243	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12082207	chr1:226058246-226058247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs562507921	chr1:226058281-226058282	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs531712532	chr1:226058318-226058319	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs360089	chr1:226058331-226058332	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
6	chr1:226036800-226058600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
8	chr1:226037600-226060600	Strong transcription	Placenta	Placenta
9	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
10	chr1:226038400-226059600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:226039000-226063200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:226039600-226059800	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:226039600-226062200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:226039600-226063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:226044400-226062800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:226045000-226060800	Strong transcription	Liver	Liver
21	chr1:226046200-226063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:226046800-226059400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:226047600-226063200	Strong transcription	Left Ventricle	heart
24	chr1:226048000-226060000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:226048400-226062600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:226051800-226066400	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr1:226052200-226059800	Strong transcription	NHLF	lung
29	chr1:226052600-226064200	Strong transcription	Right Ventricle	heart
30	chr1:226052800-226057800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:226052800-226059400	Strong transcription	HepG2	liver
32	chr1:226052800-226059800	Strong transcription	Colon Smooth Muscle	Colon
33	chr1:226052800-226060000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:226053000-226057400	Strong transcription	Aorta	Aorta
35	chr1:226053000-226059600	Strong transcription	Esophagus	oesophagus
36	chr1:226053200-226059600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr1:226053200-226062000	Strong transcription	Fetal Intestine Large	intestine
38	chr1:226053200-226063600	Strong transcription	Ovary	ovary
39	chr1:226053400-226062200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:226053600-226059000	Strong transcription	Pancreas	Pancrea
41	chr1:226053600-226059400	Strong transcription	Gastric	stomach
42	chr1:226053600-226062600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:226053600-226062800	Strong transcription	Fetal Intestine Small	intestine
44	chr1:226054000-226065000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr1:226054200-226063800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:226054200-226064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:226054400-226057800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:226054400-226058400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:226054400-226065000	Strong transcription	Lung	lung
50	chr1:226054400-226065600	Strong transcription	Fetal Stomach	stomach

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