Variant report

Variant	esv275243
Chromosome Location	chr22:29638470-29642365
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:29598698..29599406-chr22:29641204..29641781,2	K562	blood:
2	chr22:29411148..29412690-chr22:29641061..29643076,2	K562	blood:
3	chr22:29600704..29601509-chr22:29641190..29641939,2	MCF-7	breast:
4	chr22:29598263..29599277-chr22:29640793..29642655,17	MCF-7	breast:
5	chr22:29473166..29474828-chr22:29640994..29643456,2	K562	blood:
6	chr22:29549443..29550329-chr22:29641671..29642180,2	MCF-7	breast:
7	chr22:29251341..29252226-chr22:29641199..29642209,3	K562	blood:
8	chr22:29640165..29643423-chr22:29644673..29648917,5	K562	blood:
9	chr22:29436679..29437351-chr22:29641273..29642121,2	K562	blood:
10	chr22:29550189..29551060-chr22:29641253..29641991,3	MCF-7	breast:
11	chr22:29433708..29435584-chr22:29637138..29639967,2	K562	blood:
12	chr22:29640909..29643283-chr22:29659870..29662528,2	K562	blood:
13	chr22:29638508..29640700-chr22:29653710..29656559,2	K562	blood:
14	chr22:29598605..29599258-chr22:29640938..29642145,5	MCF-7	breast:
15	chr22:29601618..29602130-chr22:29641210..29642068,2	MCF-7	breast:
16	chr22:29552265..29553268-chr22:29641211..29642160,5	MCF-7	breast:
17	chr22:29601718..29602561-chr22:29641280..29642104,3	MCF-7	breast:
18	chr22:29639575..29642447-chr22:29663605..29665406,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100263	chromatin interactions
ENSG00000182944	chromatin interactions
ENSG00000186998	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11704518	chr22:29638470-29638471	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562448378	chr22:29638488-29638489	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79816230	chr22:29638496-29638497	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149380252	chr22:29638591-29638592	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572637127	chr22:29638756-29638757	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201548894	chr22:29638797-29638798	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199716960	chr22:29638798-29638799	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541047536	chr22:29638880-29638881	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144728950	chr22:29638915-29638916	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575019851	chr22:29638991-29638992	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563944278	chr22:29638995-29638996	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115560812	chr22:29639004-29639005	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532920289	chr22:29639011-29639012	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563492122	chr22:29639018-29639019	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191185018	chr22:29639029-29639030	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148100218	chr22:29639036-29639037	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34459419	chr22:29639037-29639038	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563325212	chr22:29639040-29639041	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184616644	chr22:29639061-29639062	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528416449	chr22:29639063-29639064	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5763087	chr22:29639090-29639091	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546305478	chr22:29639115-29639116	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66849612	chr22:29639136-29639137	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188638995	chr22:29639155-29639156	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5752885	chr22:29639161-29639162	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535196487	chr22:29639171-29639172	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2281157	chr22:29639192-29639193	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193273970	chr22:29639212-29639213	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374930968	chr22:29639271-29639272	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559106406	chr22:29639295-29639296	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184988518	chr22:29639351-29639352	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189114729	chr22:29639377-29639378	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12159824	chr22:29639378-29639379	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371048903	chr22:29639383-29639384	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539402042	chr22:29639393-29639394	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574854995	chr22:29639437-29639438	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs181728854	chr22:29639484-29639485	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs201129535	chr22:29639495-29639496	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs563731619	chr22:29639519-29639520	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs5752886	chr22:29639522-29639523	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs372380073	chr22:29639541-29639542	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs575799194	chr22:29639609-29639610	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545725083	chr22:29639646-29639647	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556287509	chr22:29639652-29639653	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569808068	chr22:29639668-29639669	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564283379	chr22:29639685-29639686	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528393240	chr22:29639714-29639715	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112923416	chr22:29639715-29639716	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs184158490	chr22:29639721-29639722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561351107	chr22:29639827-29639828	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
4	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29628400-29641200	Weak transcription	Fetal Brain Male	brain
6	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:29629600-29655400	Weak transcription	Liver	Liver
8	chr22:29629600-29655400	Weak transcription	Gastric	stomach
9	chr22:29630200-29639400	Weak transcription	Ovary	ovary
10	chr22:29630200-29641400	Weak transcription	Pancreas	Pancrea
11	chr22:29630600-29639400	Weak transcription	Spleen	Spleen
12	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
14	chr22:29634800-29639800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr22:29634800-29640400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29634800-29641200	Strong transcription	Fetal Intestine Large	intestine
17	chr22:29635600-29638600	Weak transcription	Fetal Kidney	kidney
18	chr22:29635800-29639400	Weak transcription	Brain Germinal Matrix	brain
19	chr22:29636400-29641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:29636600-29640400	Strong transcription	Fetal Brain Female	brain
21	chr22:29637400-29638600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr22:29637400-29639800	Weak transcription	Thymus	Thymus
23	chr22:29637800-29639200	ZNF genes & repeats	Dnd41	blood
24	chr22:29638200-29638600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:29638200-29638600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29638200-29639000	Weak transcription	Fetal Intestine Small	intestine
27	chr22:29638200-29639000	Weak transcription	Fetal Stomach	stomach
28	chr22:29638400-29638800	ZNF genes & repeats	Fetal Lung	lung
29	chr22:29638400-29639400	Weak transcription	Lung	lung
30	chr22:29638400-29641000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:29638400-29641000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:29638400-29655200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:29638600-29639000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:29638600-29640400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr22:29638600-29640400	Strong transcription	Fetal Kidney	kidney
36	chr22:29638600-29641200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:29638800-29639000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr22:29638800-29641200	Strong transcription	Fetal Lung	lung
39	chr22:29639000-29639200	ZNF genes & repeats	Fetal Stomach	stomach
40	chr22:29639000-29639400	Weak transcription	Fetal Muscle Leg	muscle
41	chr22:29639000-29641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:29639000-29641200	Strong transcription	Fetal Intestine Small	intestine
43	chr22:29639000-29655200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:29639200-29639600	Strong transcription	Dnd41	blood
45	chr22:29639200-29643200	Strong transcription	Fetal Stomach	stomach
46	chr22:29639400-29639600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:29639400-29639800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr22:29639400-29639800	ZNF genes & repeats	Spleen	Spleen
49	chr22:29639400-29640000	Strong transcription	Ovary	ovary
50	chr22:29639400-29640200	Strong transcription	Brain Germinal Matrix	brain

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