Variant report

Variant	nsv946512
Chromosome Location	chr1:175013171-175019073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:610)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:175015281-175015313	GM13976	blood:	n/a	n/a
2	CUX1	chr1:175016175-175016205	K562	blood:	n/a	n/a
3	GATA3	chr1:175017866-175018320	SH-SY5Y	brain:	n/a	n/a
4	MYC	chr1:175014402-175014570	MCF-7	breast:	n/a	n/a
5	MYC	chr1:175014457-175014486	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:175013257-175013275	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:175013838-175013959	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:175014739-175014902	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:175013211-175013223	A549	lung:	n/a	n/a
10	POLR2A	chr1:175013900-175013951	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:175013276-175013320	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:175013228-175013345	A549	lung:	n/a	n/a
13	POLR2A	chr1:175014740-175014871	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:175014373-175014470	MCF-7	breast:	n/a	n/a
15	REST	chr1:175017351-175017518	H1-hESC	embryonic stem cell:	n/a	n/a
16	TEAD4	chr1:175012912-175013304	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr1:175012935-175013310	H1-hESC	embryonic stem cell:	n/a	n/a
18	UBTF	chr1:175013949-175013992	K562	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:175014375-175014425	SAEC	small airway:	n/a
2	chr1:175014924-175014974	CMK	blood:	n/a
3	chr1:175014375-175014425	HepG2	liver:	n/a
4	chr1:175015908-175015958	HMEC	breast:	n/a
5	chr1:175014375-175014425	HCM	heart:	n/a
6	chr1:175014805-175014855	U87	brain:	n/a
7	chr1:175015908-175015958	HRE	kidney:	n/a
8	chr1:175014924-175014974	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:175014037-175014087	IMR90	lung:	fetal
10	chr1:175014805-175014855	HCPEpiC	choroid plexus:	n/a
11	chr1:175013154-175013204	PFSK-1	brain:	n/a
12	chr1:175013352-175013402	PrEC	prostate:	n/a
13	chr1:175014611-175014661	PFSK-1	brain:	n/a
14	chr1:175014060-175014110	ECC-1	luminal epithelium:	n/a
15	chr1:175013352-175013402	GM12878	blood:	n/a
16	chr1:175014375-175014425	AG04449	skin:	fetal
17	chr1:175014924-175014974	SK-N-SH	brain:	n/a
18	chr1:175013920-175013970	NHBE	bronchial:	n/a
19	chr1:175014611-175014661	H1-hESC	embryonic stem cell:	embryo
20	chr1:175013154-175013204	HEEpiC	esophagus:	n/a
21	chr1:175014805-175014855	HCF	heart:	n/a
22	chr1:175014611-175014661	GM12878	blood:	n/a
23	chr1:175015908-175015958	NB4	blood:	n/a
24	chr1:175013352-175013402	ECC-1	luminal epithelium:	n/a
25	chr1:175014924-175014974	HRPEpiC	eye:	n/a
26	chr1:175014037-175014087	HCM	heart:	n/a
27	chr1:175014805-175014855	GM12878	blood:	n/a
28	chr1:175013352-175013402	BJ	skin:	n/a
29	chr1:175014375-175014425	AG04450	lung:	fetal
30	chr1:175014060-175014110	IMR90	lung:	fetal
31	chr1:175014060-175014110	Hela-S3	cervix:	n/a
32	chr1:175014924-175014974	NT2-D1	testis:	n/a
33	chr1:175015908-175015958	NHBE	bronchial:	n/a
34	chr1:175015908-175015958	SK-N-SH	brain:	n/a
35	chr1:175014037-175014087	NB4	blood:	n/a
36	chr1:175014924-175014974	Caco-2	colon:	n/a
37	chr1:175013154-175013204	SKMC	muscle:	n/a
38	chr1:175014375-175014425	A549	lung:	n/a
39	chr1:175013352-175013402	HepG2	liver:	n/a
40	chr1:175015908-175015958	ProgFib	skin:	n/a
41	chr1:175014611-175014661	Hepatocyte	liver:	n/a
42	chr1:175014924-175014974	H1-hESC	embryonic stem cell:	embryo
43	chr1:175014611-175014661	HUVEC	blood vessel:	n/a
44	chr1:175014375-175014425	ProgFib	skin:	n/a
45	chr1:175014060-175014110	ovcar-3	ovarian:	n/a
46	chr1:175014611-175014661	ECC-1	luminal epithelium:	n/a
47	chr1:175014611-175014661	Hela-S3	cervix:	n/a
48	chr1:175014060-175014110	ProgFib	skin:	n/a
49	chr1:175014805-175014855	NB4	blood:	n/a
50	chr1:175015908-175015958	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175018453..175021258-chr1:175048643..175051325,2	MCF-7	breast:

No data

Variant related genes	Relation type
SDCCAG3P2	TF binding region
SDCCAG3P2	CpG island

Extended variants
information (count: 108 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538696663	chr1:175013201-175013202	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114312541	chr1:175013213-175013214	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572612244	chr1:175013220-175013221	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541727063	chr1:175013232-175013233	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71645226	chr1:175013233-175013234	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561298075	chr1:175013250-175013251	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575005477	chr1:175013287-175013288	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144047871	chr1:175013340-175013341	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374754973	chr1:175013422-175013423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555694010	chr1:175013430-175013431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562620112	chr1:175013508-175013509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531437282	chr1:175013528-175013529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551355059	chr1:175013531-175013532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189421494	chr1:175013536-175013537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6661580	chr1:175013543-175013544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181474862	chr1:175013577-175013578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376960347	chr1:175013584-175013585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547696164	chr1:175013595-175013596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74128553	chr1:175013628-175013629	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146472784	chr1:175013631-175013632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113525244	chr1:175013661-175013662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549862052	chr1:175013714-175013715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569770365	chr1:175013740-175013741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185319705	chr1:175013750-175013751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572464939	chr1:175013770-175013771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558489448	chr1:175013780-175013781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541486920	chr1:175013783-175013784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189823762	chr1:175013850-175013851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181087358	chr1:175013871-175013872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564549801	chr1:175013874-175013875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543987375	chr1:175013876-175013877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575212662	chr1:175013915-175013916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576170904	chr1:175013932-175013933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3737935	chr1:175013936-175013937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs564703768	chr1:175013944-175013945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527313626	chr1:175013948-175013949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540956143	chr1:175013976-175013977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561284624	chr1:175013987-175013988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149730439	chr1:175014000-175014001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543631545	chr1:175014012-175014013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549526294	chr1:175014055-175014056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569532862	chr1:175014085-175014086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532443396	chr1:175014092-175014093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552668971	chr1:175014115-175014116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565919415	chr1:175014116-175014117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535058506	chr1:175014160-175014161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554669266	chr1:175014164-175014165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568696077	chr1:175014177-175014178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537754568	chr1:175014242-175014243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7355181	chr1:175014250-175014251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

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
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
Glioblastoma multiforme	21080181	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
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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
2	chr1:175012000-175014200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:175012600-175013400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr1:175013000-175013400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:175013000-175013400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:175013000-175013400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr1:175013000-175013400	Enhancers	Fetal Stomach	stomach
8	chr1:175013000-175013600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:175013000-175013600	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:175013000-175013800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:175013000-175013800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:175013000-175013800	Enhancers	Fetal Lung	lung
13	chr1:175013000-175014000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:175013000-175014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:175013200-175013800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:175013200-175013800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:175013400-175013800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:175013800-175014400	Enhancers	Spleen	Spleen

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