Variant report

Variant	esv3401816
Chromosome Location	chr22:34099787-34103037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:34102257-34102439	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr22:34102300-34102450	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr22:34102228-34102527	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELF1	chr22:34102204-34102434	GM12878	blood:	n/a	n/a
5	GTF2F1	chr22:34101242-34101244	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr22:34099981-34100190	HepG2	liver:	n/a	n/a
7	MAFK	chr22:34099889-34100184	HepG2	liver:	n/a	n/a
8	MAFK	chr22:34102437-34102717	H1-hESC	embryonic stem cell:	n/a	chr22:34102644-34102653
9	MXI1	chr22:34101911-34102005	GM12878	blood:	n/a	n/a
10	NFE2	chr22:34099830-34099896	GM12878	blood:	n/a	n/a
11	RAD21	chr22:34102061-34102505	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr22:34102123-34102468	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr22:34102197-34102514	H1-hESC	embryonic stem cell:	n/a	n/a
14	SETDB1	chr22:34099432-34099819	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000253007	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532144053	chr22:34099800-34099801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs115649226	chr22:34099843-34099844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73170534	chr22:34099880-34099881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563183608	chr22:34099900-34099901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559004235	chr22:34099929-34099930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528124590	chr22:34100019-34100020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs547869386	chr22:34100049-34100050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12159718	chr22:34100077-34100078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73402818	chr22:34100095-34100096	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531114543	chr22:34100096-34100097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373601542	chr22:34100154-34100155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551229283	chr22:34100193-34100194	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs118133011	chr22:34100211-34100212	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540016231	chr22:34100225-34100226	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553550694	chr22:34100259-34100260	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149327840	chr22:34100286-34100287	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12160058	chr22:34100289-34100290	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535900549	chr22:34100310-34100311	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181907516	chr22:34100372-34100373	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555478525	chr22:34100396-34100397	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186079435	chr22:34100406-34100407	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543365979	chr22:34100429-34100430	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201679835	chr22:34100523-34100524	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs240085	chr22:34100524-34100525	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375485089	chr22:34100527-34100528	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56407245	chr22:34100528-34100529	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545592587	chr22:34100531-34100532	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559063957	chr22:34100542-34100543	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144578501	chr22:34100556-34100557	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541862035	chr22:34100566-34100567	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561551852	chr22:34100576-34100577	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559417255	chr22:34100588-34100589	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190590780	chr22:34100631-34100632	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181662910	chr22:34100676-34100677	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564764976	chr22:34100752-34100753	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527612014	chr22:34100756-34100757	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186497046	chr22:34100759-34100760	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528371866	chr22:34100769-34100770	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567021943	chr22:34100803-34100804	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535595732	chr22:34100807-34100808	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549421288	chr22:34100822-34100823	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569194490	chr22:34100838-34100839	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547698194	chr22:34100865-34100866	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148717370	chr22:34100868-34100869	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556884912	chr22:34100885-34100886	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs5754648	chr22:34100889-34100890	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576718385	chr22:34100892-34100893	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368990021	chr22:34100894-34100895	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs5754649	chr22:34100944-34100945	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56113849	chr22:34100993-34100994	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	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
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34075000-34100400	Weak transcription	Brain Anterior Caudate	brain
2	chr22:34076200-34106400	Weak transcription	Psoas Muscle	Psoas
3	chr22:34085600-34103600	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:34087000-34109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:34090400-34100200	Weak transcription	Aorta	Aorta
6	chr22:34091600-34115800	Weak transcription	Pancreas	Pancrea
7	chr22:34092400-34109200	Weak transcription	Fetal Intestine Large	intestine
8	chr22:34094400-34102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:34096400-34103200	Weak transcription	GM12878-XiMat	blood
10	chr22:34097000-34110000	Weak transcription	Ovary	ovary
11	chr22:34097200-34101200	Weak transcription	Gastric	stomach
12	chr22:34097200-34102200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:34097200-34103400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:34097200-34108000	Weak transcription	Fetal Intestine Small	intestine
15	chr22:34097200-34109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:34097200-34109200	Weak transcription	Fetal Brain Female	brain
17	chr22:34097200-34109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:34097400-34103200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:34097400-34107400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:34097600-34100400	Weak transcription	Liver	Liver
21	chr22:34097600-34102400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:34097600-34110200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:34097600-34114600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:34097800-34100200	Weak transcription	Right Atrium	heart
25	chr22:34097800-34105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:34098000-34102200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:34098200-34110600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:34098400-34100200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:34098600-34106000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:34098800-34100400	Weak transcription	Right Ventricle	heart
31	chr22:34099000-34100200	Weak transcription	Left Ventricle	heart
32	chr22:34099000-34101000	Weak transcription	Fetal Heart	heart
33	chr22:34099400-34100400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:34099600-34099800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
35	chr22:34099600-34100400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr22:34099600-34101000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr22:34099600-34101000	ZNF genes & repeats	Fetal Stomach	stomach
38	chr22:34100200-34101000	Enhancers	Right Atrium	heart
39	chr22:34100200-34101200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:34100200-34101200	ZNF genes & repeats	Aorta	Aorta
41	chr22:34100200-34101200	Genic enhancers	Left Ventricle	heart
42	chr22:34100400-34100600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr22:34100400-34100600	Enhancers	Brain Anterior Caudate	brain
44	chr22:34100400-34100600	Enhancers	Right Ventricle	heart
45	chr22:34100400-34109000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:34100600-34100800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr22:34100600-34101000	Weak transcription	Brain Anterior Caudate	brain
48	chr22:34100600-34101000	Weak transcription	Right Ventricle	heart
49	chr22:34100600-34108200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:34100800-34102200	Weak transcription	Spleen	Spleen

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