Variant report

Variant	esv3418371
Chromosome Location	chr22:29569447-29595319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:29591655-29591957	K562	blood:	n/a	n/a
2	ATF1	chr22:29591528-29591943	K562	blood:	n/a	n/a
3	ATF1	chr22:29593118-29593369	K562	blood:	n/a	n/a
4	ATF3	chr22:29593069-29593342	K562	blood:	n/a	n/a
5	ATF3	chr22:29588553-29588763	K562	blood:	n/a	n/a
6	BHLHE40	chr22:29591520-29591940	K562	blood:	n/a	n/a
7	BHLHE40	chr22:29588501-29588850	K562	blood:	n/a	n/a
8	CBX3	chr22:29591463-29591951	K562	blood:	n/a	n/a
9	CBX3	chr22:29591551-29591851	K562	blood:	n/a	n/a
10	CBX3	chr22:29570904-29571228	K562	blood:	n/a	n/a
11	CBX3	chr22:29571412-29571788	K562	blood:	n/a	n/a
12	CBX3	chr22:29571376-29571777	K562	blood:	n/a	n/a
13	CBX3	chr22:29591078-29591436	K562	blood:	n/a	n/a
14	CCNT2	chr22:29593102-29593334	K562	blood:	n/a	n/a
15	CCNT2	chr22:29591475-29592017	K562	blood:	n/a	chr22:29591969-29591978
16	CEBPB	chr22:29580922-29581034	HepG2	liver:	n/a	chr22:29580986-29580997
17	CEBPB	chr22:29593054-29593706	K562	blood:	n/a	n/a
18	CEBPB	chr22:29593027-29593445	HCT-116	colon:	n/a	n/a
19	CEBPB	chr22:29588545-29588794	K562	blood:	n/a	n/a
20	CEBPB	chr22:29578430-29578548	HepG2	liver:	n/a	chr22:29578458-29578469
21	CEBPB	chr22:29582689-29582851	HepG2	liver:	n/a	n/a
22	CEBPB	chr22:29593086-29593310	K562	blood:	n/a	n/a
23	CEBPB	chr22:29583186-29583386	HepG2	liver:	n/a	chr22:29583288-29583299
24	CEBPB	chr22:29583236-29583369	K562	blood:	n/a	chr22:29583288-29583299
25	CEBPB	chr22:29593023-29593423	K562	blood:	n/a	n/a
26	CEBPB	chr22:29593070-29593394	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr22:29591526-29591814	K562	blood:	n/a	n/a
28	CEBPB	chr22:29571416-29571761	K562	blood:	n/a	n/a
29	CEBPD	chr22:29591491-29592042	K562	blood:	n/a	n/a
30	CHD2	chr22:29591656-29592050	K562	blood:	n/a	n/a
31	CTCF	chr22:29590420-29590570	GM12865	blood:	n/a	n/a
32	CTCF	chr22:29590440-29590590	GM12871	blood:	n/a	n/a
33	CTCF	chr22:29591700-29591850	BE2_C	brain:	n/a	n/a
34	CTCF	chr22:29590440-29590590	GM12873	blood:	n/a	n/a
35	CTCF	chr22:29590420-29590570	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr22:29590340-29590490	NHEK	skin:	n/a	n/a
37	CTCF	chr22:29590380-29590530	BJ	skin:	n/a	n/a
38	CTCF	chr22:29590320-29590470	SAEC	small airway:	n/a	n/a
39	CTCF	chr22:29590460-29590610	RPTEC	kidney:	n/a	n/a
40	CTCF	chr22:29590440-29590590	HEK293	kidney:	n/a	n/a
41	CTCF	chr22:29590400-29590550	A549	lung:	n/a	n/a
42	CTCF	chr22:29590460-29590610	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr22:29590420-29590570	HCT-116	colon:	n/a	n/a
44	CTCF	chr22:29590500-29590650	GM12870	blood:	n/a	n/a
45	CTCF	chr22:29591660-29591810	K562	blood:	n/a	n/a
46	CTCF	chr22:29590360-29590510	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr22:29590420-29590570	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr22:29590440-29590590	K562	blood:	n/a	n/a
49	CTCF	chr22:29590440-29590590	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr22:29590400-29590550	GM12869	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:29544270..29547165-chr22:29570652..29572572,2	K562	blood:
2	chr22:29572893..29574500-chr4:27935942..27938395,2	MCF-7	breast:
3	chr22:29581387..29582891-chr22:29590822..29592585,2	K562	blood:
4	chr22:29579157..29580861-chr22:29584345..29586693,2	K562	blood:
5	chr22:29585002..29586598-chr22:29591527..29594079,2	MCF-7	breast:
6	chr22:29568099..29570164-chr22:29580490..29582508,2	K562	blood:
7	chr22:29570359..29573070-chr22:29578179..29579900,2	K562	blood:
8	chr22:29591219..29593786-chr22:29664964..29667623,2	K562	blood:
9	chr22:29568099..29570164-chr22:29580490..29582508,2	K562	blood:
10	chr22:29567775..29570590-chr22:29581265..29582805,2	MCF-7	breast:
11	chr22:29570359..29573070-chr22:29578179..29579900,2	K562	blood:
12	chr22:29585002..29586598-chr22:29591527..29594079,2	MCF-7	breast:
13	chr22:29579157..29580861-chr22:29584345..29586693,2	K562	blood:
14	chr22:29588962..29590714-chr22:29595745..29598495,3	K562	blood:
15	chr22:29567775..29570590-chr22:29581265..29582805,2	MCF-7	breast:
16	chr22:29581387..29582891-chr22:29590822..29592585,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EMID1-2	chr22:29589121-29589390	NONHSAT084679
2	lnc-RHBDD3-2	chr22:29576311-29576655	NONHSAT084677
3	lnc-RHBDD3-2	chr22:29579160-29579348	NONHSAT084677

No data

Variant related genes	Relation type
RNU6-1219P	TF binding region
ENSG00000182944	chromatin interactions

Extended variants
information (count: 914 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184147437	chr22:29571806-29571807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62227028	chr22:29571824-29571825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557443863	chr22:29571846-29571847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78120061	chr22:29571859-29571860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540293062	chr22:29571959-29571960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559993766	chr22:29571979-29571980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540230876	chr22:29571980-29571981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76728306	chr22:29571990-29571991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77536357	chr22:29571991-29571992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530366401	chr22:29572040-29572041	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542434190	chr22:29572085-29572086	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572661254	chr22:29572130-29572131	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180810691	chr22:29572194-29572195	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543330242	chr22:29572195-29572196	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186093875	chr22:29572198-29572199	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564044904	chr22:29572213-29572214	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560055011	chr22:29572236-29572237	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377647956	chr22:29572260-29572261	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541565312	chr22:29572266-29572267	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553357350	chr22:29572284-29572285	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73882490	chr22:29572285-29572286	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568746440	chr22:29572287-29572288	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552563616	chr22:29572368-29572369	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564289860	chr22:29572418-29572419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs146607291	chr22:29572425-29572426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs114787841	chr22:29572479-29572480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568210957	chr22:29572483-29572484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551350877	chr22:29572489-29572490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535304713	chr22:29572501-29572502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141327326	chr22:29572506-29572507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557883329	chr22:29572516-29572517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571414170	chr22:29572558-29572559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192152697	chr22:29572566-29572567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11090561	chr22:29572766-29572767	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550536875	chr22:29572775-29572776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557747620	chr22:29572782-29572783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567432254	chr22:29572788-29572789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572832041	chr22:29572822-29572823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145075170	chr22:29572856-29572857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555543009	chr22:29572859-29572860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145758911	chr22:29572887-29572888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542439124	chr22:29572948-29572949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58300295	chr22:29572969-29572970	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575910179	chr22:29572998-29572999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371509492	chr22:29573000-29573001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546140243	chr22:29573074-29573075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564141653	chr22:29573082-29573083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528512363	chr22:29573093-29573094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546578435	chr22:29573104-29573105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6006045	chr22:29573114-29573115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29571800-29572400	Enhancers	HepG2	liver
2	chr22:29572000-29573000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr22:29572800-29591000	Weak transcription	Spleen	Spleen
4	chr22:29573000-29576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:29573000-29576200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:29573200-29576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:29573200-29576000	Weak transcription	Dnd41	blood
8	chr22:29573400-29580400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:29575400-29579800	Weak transcription	Brain Germinal Matrix	brain
10	chr22:29576000-29577000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:29576000-29577600	Strong transcription	Dnd41	blood
12	chr22:29576000-29579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:29576200-29576400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr22:29576200-29576600	ZNF genes & repeats	Fetal Lung	lung
15	chr22:29576200-29576800	ZNF genes & repeats	Fetal Brain Female	brain
16	chr22:29576400-29576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:29576400-29576600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
18	chr22:29576400-29576600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr22:29576400-29576600	ZNF genes & repeats	Fetal Stomach	stomach
20	chr22:29576400-29591000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr22:29576600-29580000	Weak transcription	Fetal Stomach	stomach
22	chr22:29576600-29580200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:29576600-29583800	Weak transcription	Fetal Lung	lung
24	chr22:29576600-29590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
26	chr22:29576800-29577000	ZNF genes & repeats	Fetal Brain Male	brain
27	chr22:29576800-29580400	Weak transcription	Fetal Brain Female	brain
28	chr22:29577000-29578400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:29577000-29580200	Weak transcription	Fetal Brain Male	brain
30	chr22:29577600-29591200	Weak transcription	Dnd41	blood
31	chr22:29578400-29578600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29578400-29578600	Enhancers	HepG2	liver
33	chr22:29578400-29579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:29578600-29578800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:29578600-29580000	Weak transcription	HepG2	liver
36	chr22:29579000-29580400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:29579200-29580000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:29579200-29590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:29579800-29580800	Enhancers	Brain Germinal Matrix	brain
40	chr22:29579800-29582600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr22:29580000-29580200	Enhancers	HepG2	liver
42	chr22:29580000-29580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:29580000-29581000	Enhancers	Brain Anterior Caudate	brain
44	chr22:29580000-29581400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:29580200-29580600	Flanking Active TSS	HepG2	liver
46	chr22:29580200-29581000	Enhancers	Fetal Muscle Trunk	muscle
47	chr22:29580200-29581200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:29580200-29581200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr22:29580200-29581200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:29580200-29581400	Enhancers	Brain Cingulate Gyrus	brain

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