Variant report

Variant	esv20384
Chromosome Location	chr1:226375850-226384008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:62)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:226379882-226379933	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr1:226382240-226382390	GM12878	blood:	n/a	n/a
3	CTCF	chr1:226383360-226383510	GM12864	blood:	n/a	n/a
4	CTCF	chr1:226379863-226379939	GM10248	blood:	n/a	n/a
5	CTCF	chr1:226382342-226382386	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr1:226382863-226382879	GM13976	blood:	n/a	n/a
7	FAM48A	chr1:226378623-226378680	GM12878	blood:	n/a	n/a
8	GATA2	chr1:226382890-226383246	SH-SY5Y	brain:	n/a	chr1:226382901-226382912
9	GATA3	chr1:226382809-226383205	T-47D	breast:	n/a	chr1:226382901-226382912
10	GATA3	chr1:226382733-226383315	MCF-7	breast:	n/a	chr1:226382901-226382912
11	GATA3	chr1:226382837-226383188	T-47D	breast:	n/a	chr1:226382901-226382912
12	GATA3	chr1:226383029-226383095	SH-SY5Y	brain:	n/a	n/a
13	POLR2A	chr1:226383145-226383189	ProgFib	skin:	n/a	n/a
14	POLR2A	chr1:226383226-226383267	ProgFib	skin:	n/a	n/a
15	STAT3	chr1:226378600-226378722	MCF10A-Er-Src	breast:	n/a	n/a
16	TFAP2C	chr1:226382873-226383278	Hela-S3	cervix:	n/a	chr1:226383046-226383061

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226377058-226377108	MCF-7	breast:	n/a
2	chr1:226377058-226377108	MCF-7	breast:	n/a
3	chr1:226377058-226377108	HCT-116	colon:	n/a
4	chr1:226377058-226377108	HUVEC	blood vessel:	n/a
5	chr1:226377058-226377108	LNCaP	prostate:	n/a
6	chr1:226377058-226377108	GM12891	blood:	n/a
7	chr1:226377058-226377108	U87	brain:	n/a
8	chr1:226377058-226377108	ProgFib	skin:	n/a
9	chr1:226377058-226377108	HRPEpiC	eye:	n/a
10	chr1:226377058-226377108	SK-N-SH_RA	brain:	n/a
11	chr1:226377058-226377108	HNPCEpiC	eye:	n/a
12	chr1:226377058-226377108	PANC-1	pancreas:	n/a
13	chr1:226377058-226377108	PrEC	prostate:	n/a
14	chr1:226377058-226377108	IMR90	lung:	fetal
15	chr1:226377058-226377108	AG04450	lung:	fetal
16	chr1:226377058-226377108	Hepatocyte	liver:	n/a
17	chr1:226377058-226377108	T-47D	breast:	n/a
18	chr1:226377058-226377108	RPTEC	kidney:	n/a
19	chr1:226377058-226377108	A549	lung:	n/a
20	chr1:226377058-226377108	GM12878	blood:	n/a
21	chr1:226377058-226377108	SK-N-SH	brain:	n/a
22	chr1:226377058-226377108	SK-N-MC	brain:	n/a
23	chr1:226377058-226377108	AoSMC	blood vessel:	n/a
24	chr1:226377058-226377108	HEK293	kidney:	embryo
25	chr1:226377058-226377108	HL-60	blood:	n/a
26	chr1:226377058-226377108	HCM	heart:	n/a
27	chr1:226377058-226377108	HepG2	liver:	n/a
28	chr1:226377058-226377108	GM12892	blood:	n/a
29	chr1:226377058-226377108	Caco-2	colon:	n/a
30	chr1:226377058-226377108	NHBE	bronchial:	n/a
31	chr1:226377058-226377108	Hela-S3	cervix:	n/a
32	chr1:226377058-226377108	SAEC	small airway:	n/a
33	chr1:226377058-226377108	MCF10A-Er-Src	breast:	n/a
34	chr1:226377058-226377108	HEEpiC	esophagus:	n/a
35	chr1:226377058-226377108	AG09309	skin:	n/a
36	chr1:226377058-226377108	AG04449	skin:	fetal
37	chr1:226377058-226377108	BE2_C	brain:	n/a
38	chr1:226377058-226377108	BJ	skin:	n/a
39	chr1:226377058-226377108	HCPEpiC	choroid plexus:	n/a
40	chr1:226377058-226377108	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:226377058-226377108	K562	blood:	n/a
42	chr1:226377058-226377108	GM19239	blood:	n/a
43	chr1:226377058-226377108	NH-A	brain:	n/a
44	chr1:226377058-226377108	AG09319	gingival:	n/a
45	chr1:226377058-226377108	AG10803	skin:	n/a
46	chr1:226377058-226377108	HIPEpiC	eye:	n/a
47	chr1:226377058-226377108	NHDF-neo	bronchial:	n/a
48	chr1:226377058-226377108	H1-hESC	embryonic stem cell:	embryo
49	chr1:226377058-226377108	HRCEpiC	kidney:	n/a
50	chr1:226377058-226377108	HCF	heart:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226309186..226312321-chr1:226381132..226386632,6	MCF-7	breast:
2	chr1:226308104..226310336-chr1:226384003..226386775,2	K562	blood:
3	chr1:226381844..226383704-chr1:226388767..226391122,2	MCF-7	breast:
4	chr1:226374445..226376011-chr1:226411656..226414406,2	K562	blood:
5	chr1:226374796..226376428-chr1:226594450..226597292,2	K562	blood:
6	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
7	chr1:226371961..226375672-chr1:226379303..226382064,4	K562	blood:
8	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
9	chr1:226311060..226314029-chr1:226383239..226385017,2	MCF-7	breast:
10	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
11	chr1:226373490..226375675-chr1:226381413..226384539,3	MCF-7	breast:
12	chr1:226374087..226377856-chr1:226380346..226384687,6	MCF-7	breast:
13	chr1:226377155..226378728-chr1:226497117..226498725,2	MCF-7	breast:
14	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
15	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD3-1	chr1:226376571-226376922	NONHSAT009883
2	lnc-MIXL1-5	chr1:226376638-226376826	NONHSAT009881

No data

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000223570	TF binding region
ACBD3	CpG island
ENSG00000223570	CpG island
ENSG00000143799	chromatin interactions
ENSG00000270598	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000223570	chromatin interactions
ENSG00000185155	chromatin interactions
ENSG00000182827	chromatin interactions
ENSG00000183814	chromatin interactions
ENSG00000225518	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565956324	chr1:226375881-226375882	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs532256860	chr1:226375889-226375890	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs571936966	chr1:226375943-226375944	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs541133678	chr1:226375971-226375972	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs560934326	chr1:226375978-226375979	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs529549548	chr1:226376177-226376178	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs543236820	chr1:226376182-226376183	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs138806961	chr1:226376205-226376206	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs181267443	chr1:226376206-226376207	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs555867385	chr1:226376219-226376220	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs185852520	chr1:226376243-226376244	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs538201391	chr1:226376274-226376275	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs371198903	chr1:226376277-226376278	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs190963661	chr1:226376302-226376303	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs376356051	chr1:226376323-226376324	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs142281842	chr1:226376342-226376343	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs180971436	chr1:226376517-226376518	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs554321574	chr1:226376525-226376526	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs78313757	chr1:226376571-226376572	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs542723874	chr1:226376596-226376597	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs35451869	chr1:226376604-226376605	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs560609913	chr1:226376630-226376631	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs186161936	chr1:226376644-226376645	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs543013455	chr1:226376655-226376656	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs76069194	chr1:226376670-226376671	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs191832814	chr1:226376713-226376714	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs545590429	chr1:226376731-226376732	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs373839828	chr1:226376740-226376741	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs559518341	chr1:226376749-226376750	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs368066353	chr1:226376778-226376779	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs529814099	chr1:226376792-226376793	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs549506717	chr1:226376806-226376807	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs567715146	chr1:226376810-226376811	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs10495243	chr1:226376883-226376884	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550189410	chr1:226376920-226376921	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs371899058	chr1:226376964-226376965	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183283119	chr1:226376979-226376980	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs539341049	chr1:226376982-226376983	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs554136506	chr1:226377022-226377023	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs547898569	chr1:226377058-226377059	Weak transcription Enhancers	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs572610715	chr1:226377136-226377137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536403151	chr1:226377143-226377144	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11587381	chr1:226377250-226377251	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs575726605	chr1:226377282-226377283	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs543052247	chr1:226377307-226377308	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs564872809	chr1:226377324-226377325	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576733042	chr1:226377332-226377333	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs187221361	chr1:226377374-226377375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190692660	chr1:226377384-226377385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536081474	chr1:226377503-226377504	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375000-226380000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:226375000-226382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226375200-226377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226375200-226377200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:226375200-226378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
7	chr1:226375400-226376800	Weak transcription	HepG2	liver
8	chr1:226375400-226377800	Weak transcription	Fetal Lung	lung
9	chr1:226377000-226377200	Enhancers	HepG2	liver
10	chr1:226381600-226382000	Enhancers	K562	blood
11	chr1:226382600-226383200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:226382600-226383200	Enhancers	Fetal Intestine Large	intestine
13	chr1:226382800-226383000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:226382800-226383200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:226382800-226383400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:226383000-226384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:226383200-226384600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:226383400-226390800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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