Variant report

Variant	esv16903
Chromosome Location	chr22:29383848-29386970
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	BACH1	chr22:29385584-29385756	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr22:29385681-29385690	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr22:29384787-29385526	H1-hESC	embryonic stem cell:	n/a	chr22:29385458-29385468
4	E2F6	chr22:29384955-29385468	H1-hESC	embryonic stem cell:	n/a	chr22:29385458-29385468
5	EBF1	chr22:29385291-29385580	GM12878	blood:	n/a	n/a
6	GATA3	chr22:29383896-29384034	SH-SY5Y	brain:	n/a	n/a
7	GTF2F1	chr22:29385135-29385469	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr22:29384796-29385609	H1-hESC	embryonic stem cell:	n/a	chr22:29384920-29384932
9	MAX	chr22:29385042-29385404	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
10	MAX	chr22:29384912-29385468	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
11	MAX	chr22:29385026-29385426	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
12	MYC	chr22:29385010-29385362	H1-hESC	embryonic stem cell:	n/a	chr22:29385121-29385131
13	POLR2A	chr22:29385592-29385595	HepG2	liver:	n/a	n/a
14	POLR2A	chr22:29385610-29385653	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:29386924-29387228	HepG2	liver:	n/a	n/a
16	POLR2A	chr22:29384383-29384455	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr22:29385052-29385390	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr22:29385052-29385415	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr22:29384347-29384449	HepG2	liver:	n/a	n/a
20	POLR2A	chr22:29384460-29384700	HepG2	liver:	n/a	n/a
21	POLR2A	chr22:29386707-29386715	HepG2	liver:	n/a	n/a
22	POLR2A	chr22:29386417-29386651	HepG2	liver:	n/a	n/a
23	STAT3	chr22:29383846-29384008	MCF10A-Er-Src	breast:	n/a	n/a
24	TAF1	chr22:29385088-29385426	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr22:29385712-29385722	H1-hESC	embryonic stem cell:	n/a	n/a
26	TBP	chr22:29384996-29385357	H1-hESC	embryonic stem cell:	n/a	n/a
27	USF2	chr22:29385609-29385610	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29379528..29381161-chr22:29385924..29388369,2	MCF-7	breast:
2	chr22:29380991..29382745-chr22:29384341..29385877,2	K562	blood:
3	chr22:29381053..29382745-chr22:29384377..29385897,2	K562	blood:

Variant related genes	Relation type
ZNRF3-IT1	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545901319	chr22:29383889-29383890	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs144992524	chr22:29383890-29383891	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566575096	chr22:29383923-29383924	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12628368	chr22:29383927-29383928	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185554827	chr22:29383952-29383953	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530283591	chr22:29384004-29384005	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs17439920	chr22:29384017-29384018	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28684457	chr22:29384159-29384160	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34016513	chr22:29384199-29384200	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569219260	chr22:29384246-29384247	Genic enhancers Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559374323	chr22:29384283-29384284	Genic enhancers Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569699880	chr22:29384289-29384290	Genic enhancers Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537075133	chr22:29384350-29384351	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558548683	chr22:29384376-29384377	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs528682467	chr22:29384398-29384399	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570889006	chr22:29384407-29384408	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534815129	chr22:29384473-29384474	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs5762941	chr22:29384503-29384504	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34289479	chr22:29384516-29384517	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180872344	chr22:29384566-29384567	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs142096624	chr22:29384620-29384621	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs41341948	chr22:29384656-29384657	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79127495	chr22:29384706-29384707	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575293233	chr22:29384710-29384711	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533094353	chr22:29384711-29384712	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554892313	chr22:29384741-29384742	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545789299	chr22:29384769-29384770	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563942184	chr22:29384774-29384775	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56332784	chr22:29384804-29384805	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539955710	chr22:29384901-29384902	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs145895077	chr22:29384902-29384903	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73390808	chr22:29384929-29384930	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548449827	chr22:29384931-29384932	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574960091	chr22:29384935-29384936	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563609612	chr22:29384940-29384941	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs370328221	chr22:29384983-29384984	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs534264235	chr22:29385039-29385040	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554499967	chr22:29385183-29385184	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138704642	chr22:29385184-29385185	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs552501774	chr22:29385363-29385364	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570758352	chr22:29385374-29385375	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs192266565	chr22:29385406-29385407	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377494001	chr22:29385443-29385444	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546822543	chr22:29385445-29385446	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568249095	chr22:29385459-29385460	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374079244	chr22:29385478-29385479	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183997458	chr22:29385483-29385484	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371215095	chr22:29385487-29385488	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs537796780	chr22:29385508-29385509	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs35429985	chr22:29385509-29385510	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	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:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
3	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
8	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:29374800-29384400	Weak transcription	Osteobl	bone
10	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
11	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
12	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29376600-29384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29378000-29385400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr22:29378800-29384200	Weak transcription	A549	lung
16	chr22:29379600-29388400	Weak transcription	Psoas Muscle	Psoas
17	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
18	chr22:29380000-29388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:29380400-29384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:29380600-29384200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29381000-29385200	Genic enhancers	HepG2	liver
23	chr22:29381000-29386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29381000-29388400	Weak transcription	Fetal Heart	heart
25	chr22:29381000-29393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:29381000-29395600	Weak transcription	Esophagus	oesophagus
27	chr22:29381200-29384200	Weak transcription	HMEC	breast
28	chr22:29381200-29384800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:29381200-29385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29381200-29400400	Weak transcription	Lung	lung
31	chr22:29381400-29389400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:29381600-29386000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:29381600-29389000	Weak transcription	Dnd41	blood
34	chr22:29381600-29395400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr22:29381800-29388400	Weak transcription	Placenta	Placenta
36	chr22:29381800-29388400	Weak transcription	HSMMtube	muscle
37	chr22:29381800-29390600	Weak transcription	Colonic Mucosa	Colon
38	chr22:29382000-29384600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr22:29382000-29387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:29382200-29385400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:29382400-29393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29382800-29384600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
44	chr22:29382800-29384800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
45	chr22:29383000-29384000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:29383000-29384600	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr22:29383000-29385800	Strong transcription	Liver	Liver
48	chr22:29383000-29390000	Strong transcription	Fetal Intestine Small	intestine
49	chr22:29383200-29384400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:29383200-29384400	Strong transcription	Stomach Smooth Muscle	stomach

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