Variant report

Variant	esv3413107
Chromosome Location	chr1:213021779-213025977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:213025410-213025857	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:213025373-213025890	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr1:213025420-213025772	H1-hESC	embryonic stem cell:	n/a	chr1:213025426-213025440
4	GTF2F1	chr1:213025473-213025798	H1-hESC	embryonic stem cell:	n/a	n/a
5	HDAC2	chr1:213025425-213025830	H1-hESC	embryonic stem cell:	n/a	chr1:213025429-213025443 chr1:213025427-213025441 chr1:213025426-213025440 chr1:213025431-213025445 chr1:213025425-213025439
6	HDAC2	chr1:213025497-213025766	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr1:213025459-213025706	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr1:213025473-213025760	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:213025453-213025817	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr1:213025457-213025806	H1-hESC	embryonic stem cell:	n/a	n/a
11	NANOG	chr1:213025443-213025779	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFYB	chr1:213025887-213026050	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:213025762-213025864	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:213025515-213025741	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:213022017-213022018	A549	lung:	n/a	n/a
16	POU5F1	chr1:213025418-213025885	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr1:213025789-213026065	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr1:213025393-213025755	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP1	chr1:213025415-213025842	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP4	chr1:213025463-213025823	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr1:213025544-213025890	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr1:213025437-213025748	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr1:213025421-213025789	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:213021979-213022029	AoSMC	blood vessel:	n/a
2	chr1:213021979-213022029	AoSMC	blood vessel:	n/a
3	chr1:213021979-213022029	HNPCEpiC	eye:	n/a
4	chr1:213021979-213022029	CMK	blood:	n/a
5	chr1:213021979-213022029	U87	brain:	n/a
6	chr1:213021979-213022029	ProgFib	skin:	n/a
7	chr1:213021979-213022029	AG04450	lung:	fetal
8	chr1:213021979-213022029	SK-N-SH	brain:	n/a
9	chr1:213021979-213022029	SKMC	muscle:	n/a
10	chr1:213021979-213022029	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:213021979-213022029	LNCaP	prostate:	n/a
12	chr1:213021979-213022029	AG09309	skin:	n/a
13	chr1:213021979-213022029	GM19239	blood:	n/a
14	chr1:213021979-213022029	Caco-2	colon:	n/a
15	chr1:213021979-213022029	MCF-7	breast:	n/a
16	chr1:213021979-213022029	Jurkat	blood:	n/a
17	chr1:213021979-213022029	AG04449	skin:	fetal
18	chr1:213021979-213022029	BJ	skin:	n/a
19	chr1:213021979-213022029	A549	lung:	n/a
20	chr1:213021979-213022029	AG10803	skin:	n/a
21	chr1:213021979-213022029	HMEC	breast:	n/a
22	chr1:213021979-213022029	SAEC	small airway:	n/a
23	chr1:213021979-213022029	SK-N-MC	brain:	n/a
24	chr1:213021979-213022029	GM12891	blood:	n/a
25	chr1:213021979-213022029	NH-A	brain:	n/a
26	chr1:213021979-213022029	RPTEC	kidney:	n/a
27	chr1:213021979-213022029	HCF	heart:	n/a
28	chr1:213021979-213022029	AG09319	gingival:	n/a
29	chr1:213021979-213022029	GM12892	blood:	n/a
30	chr1:213021979-213022029	H1-hESC	embryonic stem cell:	embryo
31	chr1:213021979-213022029	IMR90	lung:	fetal
32	chr1:213021979-213022029	NT2-D1	testis:	n/a
33	chr1:213021979-213022029	PFSK-1	brain:	n/a
34	chr1:213021979-213022029	NB4	blood:	n/a
35	chr1:213021979-213022029	HEEpiC	esophagus:	n/a
36	chr1:213021979-213022029	GM06990	blood:	n/a
37	chr1:213021979-213022029	MCF10A-Er-Src	breast:	n/a
38	chr1:213021979-213022029	HRPEpiC	eye:	n/a
39	chr1:213021979-213022029	HCPEpiC	choroid plexus:	n/a
40	chr1:213021979-213022029	BE2_C	brain:	n/a
41	chr1:213021979-213022029	SK-N-SH_RA	brain:	n/a
42	chr1:213021979-213022029	HEK293	kidney:	embryo
43	chr1:213021979-213022029	HCT-116	colon:	n/a
44	chr1:213021979-213022029	GM12878	blood:	n/a
45	chr1:213021979-213022029	HAEpiC	amniotic membrane:	n/a
46	chr1:213021979-213022029	HL-60	blood:	n/a
47	chr1:213021979-213022029	HUVEC	blood vessel:	n/a
48	chr1:213021979-213022029	HRCEpiC	kidney:	n/a
49	chr1:213021979-213022029	HIPEpiC	eye:	n/a
50	chr1:213021979-213022029	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf227-1	chr1:213025450-213027651	ENSG00000198468.3
2	lnc-FLVCR1-1	chr1:213025477-213026496	NONHSAT009406
3	lnc-C1orf227-1	chr1:213025450-213027653	ENSG00000198468

No data

Variant related genes	Relation type
C1orf227	TF binding region
ENSG00000235182	TF binding region
C1orf227	CpG island
ENSG00000235182	CpG island
ENSG00000198468	chromatin interactions
ENSG00000162769	chromatin interactions
MSL3	miRNA target sites

Extended variants
information (count: 132 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527316488	chr1:213021816-213021817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10864008	chr1:213021830-213021831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564226359	chr1:213021842-213021843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532548420	chr1:213021845-213021846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551165156	chr1:213021885-213021886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560761248	chr1:213021900-213021901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569151177	chr1:213021901-213021902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112486676	chr1:213021921-213021922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373637966	chr1:213021936-213021937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28509263	chr1:213021970-213021971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28643309	chr1:213021972-213021973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548501903	chr1:213021980-213021981	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs566513365	chr1:213022000-213022001	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs187790240	chr1:213022006-213022007	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
15	rs563132042	chr1:213022023-213022024	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
16	rs372122471	chr1:213022025-213022026	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
17	rs143348986	chr1:213022026-213022027	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
18	rs192220408	chr1:213022042-213022043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12092522	chr1:213022043-213022044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537993627	chr1:213022127-213022128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77064501	chr1:213022132-213022133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182587841	chr1:213022140-213022141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72743938	chr1:213022141-213022142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571915885	chr1:213022143-213022144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543088816	chr1:213022209-213022210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76624840	chr1:213022223-213022224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563983149	chr1:213022224-213022225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77753253	chr1:213022226-213022227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146244305	chr1:213022235-213022236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61833688	chr1:213022262-213022263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111359598	chr1:213022264-213022265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34817073	chr1:213022265-213022266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397770040	chr1:213022268-213022269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77303947	chr1:213022269-213022270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11810279	chr1:213022285-213022286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562723419	chr1:213022293-213022294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369285351	chr1:213022325-213022326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530265096	chr1:213022327-213022328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186866168	chr1:213022336-213022337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2644548	chr1:213022362-213022363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535231983	chr1:213022399-213022400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138415108	chr1:213022405-213022406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534876032	chr1:213022448-213022449	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527641604	chr1:213022450-213022451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552532536	chr1:213022479-213022480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192112173	chr1:213022485-213022486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538315269	chr1:213022500-213022501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184324707	chr1:213022506-213022507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568224576	chr1:213022521-213022522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535666032	chr1:213022557-213022558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

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
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213021600-213026800	Weak transcription	HepG2	liver
3	chr1:213022400-213022600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:213022600-213030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:213024200-213030000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:213024600-213026800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:213025400-213029600	Weak transcription	Dnd41	blood
10	chr1:213025600-213026600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:213025800-213026000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:213025800-213026000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:213025800-213026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:213025800-213026200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:213025800-213026400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:213025800-213026800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:213025800-213027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:213025800-213029800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:213025800-213030000	Weak transcription	Primary B cells from peripheral blood	blood

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