Variant report

Variant	esv2762172
Chromosome Location	chr1:228086834-228101255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228083453..228085988-chr1:228087147..228089269,2	K562	blood:
2	chr1:227974971..227975949-chr1:228089646..228090423,2	MCF-7	breast:
3	chr1:227980269..227981139-chr1:228089720..228090352,2	MCF-7	breast:
4	chr1:228085970..228089284-chr1:228089997..228094183,4	MCF-7	breast:
5	chr1:228032607..228033237-chr1:228089693..228090487,2	MCF-7	breast:
6	chr1:228096764..228098830-chr1:228100833..228102833,2	K562	blood:
7	chr1:228080541..228083946-chr1:228085322..228089657,5	MCF-7	breast:
8	chr1:227921614..227923795-chr1:228090833..228092876,2	MCF-7	breast:
9	chr1:228089488..228090174-chr1:228134137..228134999,2	MCF-7	breast:
10	chr1:228094983..228097029-chr1:228105421..228107504,2	K562	blood:
11	chr1:228080370..228083162-chr1:228085359..228087553,2	K562	blood:
12	chr1:228099351..228102310-chr1:228112933..228115119,2	K562	blood:
13	chr1:228072840..228075835-chr1:228090417..228092515,2	K562	blood:
14	chr1:228075309..228077873-chr1:228100630..228103471,2	K562	blood:
15	chr1:228078454..228080145-chr1:228100152..228102991,2	MCF-7	breast:
16	chr1:228084098..228086310-chr1:228092160..228094076,2	K562	blood:
17	chr1:228085970..228089284-chr1:228089997..228094183,4	MCF-7	breast:
18	chr1:228087488..228090532-chr1:228091785..228093572,3	K562	blood:
19	chr1:228087488..228090532-chr1:228091785..228093572,3	K562	blood:
20	chr1:227949868..227950613-chr1:228089588..228090311,2	K562	blood:
21	chr1:228096764..228098830-chr1:228100833..228102833,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT9A-2	chr1:228087910-228088188	l_206_chr1:228077931-228094441_testes
2	lnc-WNT9A-2	chr1:228094336-228094441	l_206_chr1:228077931-228094441_testes
3	lnc-WNT9A-2	chr1:228087910-228088122	NONHSAT009951
4	lnc-WNT9A-2	chr1:228086781-228087544	l_206_chr1:228077931-228094441_testes

No data

Variant related genes	Relation type
ENSG00000081692	chromatin interactions
ENSG00000143740	chromatin interactions

Extended variants
information (count: 639 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6657894	chr1:228086834-228086835	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372546698	chr1:228086856-228086857	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs574719310	chr1:228086881-228086882	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs184257458	chr1:228086965-228086966	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs372891048	chr1:228086989-228086990	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs188675010	chr1:228087005-228087006	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs375181383	chr1:228087025-228087026	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530745096	chr1:228087037-228087038	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs375791430	chr1:228087073-228087074	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs545984933	chr1:228087094-228087095	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs368062291	chr1:228087095-228087096	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs564179066	chr1:228087096-228087097	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528126975	chr1:228087108-228087109	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs375767270	chr1:228087151-228087152	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs34323743	chr1:228087172-228087173	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs181150898	chr1:228087234-228087235	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186170016	chr1:228087240-228087241	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs12217059	chr1:228087265-228087266	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs530451920	chr1:228087270-228087271	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs377496731	chr1:228087272-228087273	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs72752184	chr1:228087309-228087310	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569980847	chr1:228087357-228087358	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537258991	chr1:228087360-228087361	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs562716059	chr1:228087379-228087380	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs141585238	chr1:228087392-228087393	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs145447397	chr1:228087425-228087426	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs560764115	chr1:228087431-228087432	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7528139	chr1:228087464-228087465	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534801776	chr1:228087480-228087481	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs374969912	chr1:228087552-228087553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543351476	chr1:228087556-228087557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4653883	chr1:228087561-228087562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs78488879	chr1:228087570-228087571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188974534	chr1:228087597-228087598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7514295	chr1:228087639-228087640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564269995	chr1:228087640-228087641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572933333	chr1:228087698-228087699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4653884	chr1:228087720-228087721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561794079	chr1:228087728-228087729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551827836	chr1:228087748-228087749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550121187	chr1:228087749-228087750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142650162	chr1:228087755-228087756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150994664	chr1:228087780-228087781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552396680	chr1:228087814-228087815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570943912	chr1:228087842-228087843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35934342	chr1:228087857-228087858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527672679	chr1:228087863-228087864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376596747	chr1:228087865-228087866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534478398	chr1:228087893-228087894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546803969	chr1:228087916-228087917	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228074000-228096200	Weak transcription	Gastric	stomach
2	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
3	chr1:228076000-228094600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:228080600-228092800	Weak transcription	Spleen	Spleen
5	chr1:228080600-228094600	Weak transcription	Esophagus	oesophagus
6	chr1:228081000-228098200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:228081200-228089800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:228082000-228089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:228082200-228088200	Weak transcription	K562	blood
10	chr1:228084200-228088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:228084200-228089000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:228084200-228090000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:228084400-228089600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:228084800-228089600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:228085400-228089200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:228085400-228089200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:228085400-228091400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:228085600-228087000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:228086200-228089400	Enhancers	Fetal Muscle Leg	muscle
20	chr1:228086600-228087800	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:228086800-228090400	Enhancers	Fetal Stomach	stomach
22	chr1:228088000-228088400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:228088200-228088600	Enhancers	K562	blood
24	chr1:228088400-228089200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:228088600-228089800	Weak transcription	K562	blood
26	chr1:228089000-228089200	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:228089000-228090600	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:228089200-228090000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:228089200-228091200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:228089200-228092400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:228089400-228089800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:228089400-228090200	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:228089600-228090000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:228089600-228090600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:228089600-228090800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:228089800-228090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:228089800-228090200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:228089800-228090600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:228089800-228090600	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:228089800-228090600	Enhancers	K562	blood
41	chr1:228089800-228094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:228090000-228090800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:228090000-228091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:228090000-228091200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:228090200-228090600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:228090200-228094000	Enhancers	Fetal Muscle Leg	muscle
47	chr1:228090400-228090800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr1:228090400-228091000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:228090600-228092600	Weak transcription	K562	blood
50	chr1:228090600-228094000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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