Variant report

Variant	nsv191528
Chromosome Location	chr22:29786603-29789764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:62)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:29789060-29789210	HEEpiC	esophagus:	n/a	n/a
2	EP300	chr22:29789456-29789585	GM12878	blood:	n/a	n/a
3	EP300	chr22:29789147-29789610	GM12878	blood:	n/a	chr22:29789382-29789391
4	EP300	chr22:29789343-29789504	GM12878	blood:	n/a	chr22:29789382-29789391
5	IKZF1	chr22:29789137-29789575	GM12878	blood:	n/a	n/a
6	MAZ	chr22:29789041-29789561	HepG2	liver:	n/a	chr22:29789514-29789523
7	MXI1	chr22:29789485-29789606	GM12878	blood:	n/a	n/a
8	STAT3	chr22:29789224-29789278	MCF10A-Er-Src	breast:	n/a	n/a
9	WRNIP1	chr22:29789004-29789161	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr22:29789411-29789554	K562	blood:	n/a	n/a
11	ZNF143	chr22:29788975-29789302	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29787625-29787675	GM12892	blood:	n/a
2	chr22:29787625-29787675	GM12892	blood:	n/a
3	chr22:29787625-29787675	HCM	heart:	n/a
4	chr22:29787625-29787675	HEK293	kidney:	embryo
5	chr22:29787625-29787675	BE2_C	brain:	n/a
6	chr22:29787625-29787675	MCF10A-Er-Src	breast:	n/a
7	chr22:29787625-29787675	NT2-D1	testis:	n/a
8	chr22:29787625-29787675	HPAEpiC	pulmonary alveolar:	n/a
9	chr22:29787625-29787675	AG09309	skin:	n/a
10	chr22:29787625-29787675	CMK	blood:	n/a
11	chr22:29787625-29787675	K562	blood:	n/a
12	chr22:29787625-29787675	ProgFib	skin:	n/a
13	chr22:29787625-29787675	SK-N-SH_RA	brain:	n/a
14	chr22:29787625-29787675	PrEC	prostate:	n/a
15	chr22:29787625-29787675	BJ	skin:	n/a
16	chr22:29787625-29787675	HMEC	breast:	n/a
17	chr22:29787625-29787675	ECC-1	luminal epithelium:	n/a
18	chr22:29787625-29787675	HAEpiC	amniotic membrane:	n/a
19	chr22:29787625-29787675	HRE	kidney:	n/a
20	chr22:29787625-29787675	PFSK-1	brain:	n/a
21	chr22:29787625-29787675	HCT-116	colon:	n/a
22	chr22:29787625-29787675	GM12878	blood:	n/a
23	chr22:29787625-29787675	Caco-2	colon:	n/a
24	chr22:29787625-29787675	HCPEpiC	choroid plexus:	n/a
25	chr22:29787625-29787675	AG09319	gingival:	n/a
26	chr22:29787625-29787675	AG10803	skin:	n/a
27	chr22:29787625-29787675	HRCEpiC	kidney:	n/a
28	chr22:29787625-29787675	NH-A	brain:	n/a
29	chr22:29787625-29787675	AG04450	lung:	fetal
30	chr22:29787625-29787675	HRPEpiC	eye:	n/a
31	chr22:29787625-29787675	NB4	blood:	n/a
32	chr22:29787625-29787675	HCF	heart:	n/a
33	chr22:29787625-29787675	SK-N-MC	brain:	n/a
34	chr22:29787625-29787675	SK-N-SH	brain:	n/a
35	chr22:29787625-29787675	GM06990	blood:	n/a
36	chr22:29787625-29787675	T-47D	breast:	n/a
37	chr22:29787625-29787675	LNCaP	prostate:	n/a
38	chr22:29787625-29787675	Hela-S3	cervix:	n/a
39	chr22:29787625-29787675	IMR90	lung:	fetal
40	chr22:29787625-29787675	U87	brain:	n/a
41	chr22:29787625-29787675	A549	lung:	n/a
42	chr22:29787625-29787675	HUVEC	blood vessel:	n/a
43	chr22:29787625-29787675	HNPCEpiC	eye:	n/a
44	chr22:29787625-29787675	RPTEC	kidney:	n/a
45	chr22:29787625-29787675	AoSMC	blood vessel:	n/a
46	chr22:29787625-29787675	GM19239	blood:	n/a
47	chr22:29787625-29787675	SKMC	muscle:	n/a
48	chr22:29787625-29787675	AG04449	skin:	fetal
49	chr22:29787625-29787675	NHBE	bronchial:	n/a
50	chr22:29787625-29787675	Jurkat	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29771666..29773871-chr22:29789734..29792185,2	MCF-7	breast:
2	chr22:29784558..29786360-chr22:29786552..29791390,4	MCF-7	breast:
3	chr22:29784194..29786218-chr22:29789472..29791131,2	K562	blood:
4	chr22:29786384..29789088-chr22:29790926..29793690,2	K562	blood:
5	chr22:29787252..29790791-chr22:29920718..29924086,3	MCF-7	breast:
6	chr22:29781675..29783812-chr22:29788035..29790235,2	MCF-7	breast:
7	chr22:29784630..29786169-chr22:29786224..29787893,2	K562	blood:

No data

Variant related genes	Relation type
AP1B1	TF binding region
AP1B1	CpG island
ENSG00000100280	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144429663	chr22:29786606-29786607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554864587	chr22:29786623-29786624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529629076	chr22:29786647-29786648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191146183	chr22:29786648-29786649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547914101	chr22:29786686-29786687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569388629	chr22:29786781-29786782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535172925	chr22:29786863-29786864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12169052	chr22:29786883-29786884	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550361629	chr22:29786898-29786899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571704853	chr22:29786920-29786921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558262207	chr22:29786964-29786965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377293897	chr22:29786972-29786973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369804419	chr22:29787000-29787001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554160939	chr22:29787001-29787002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566113978	chr22:29787038-29787039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536627593	chr22:29787080-29787081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7287665	chr22:29787109-29787110	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576625407	chr22:29787127-29787128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543510732	chr22:29787139-29787140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558718904	chr22:29787197-29787198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183872307	chr22:29787219-29787220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531332564	chr22:29787220-29787221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559203715	chr22:29787249-29787250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186571071	chr22:29787322-29787323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578135776	chr22:29787324-29787325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541445226	chr22:29787339-29787340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562905009	chr22:29787345-29787346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370985467	chr22:29787351-29787352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143496622	chr22:29787360-29787361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551985264	chr22:29787392-29787393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190489589	chr22:29787458-29787459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532581214	chr22:29787469-29787470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377301081	chr22:29787475-29787476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537665722	chr22:29787500-29787501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566399403	chr22:29787513-29787514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536914099	chr22:29787550-29787551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555011700	chr22:29787592-29787593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570017000	chr22:29787611-29787612	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537598165	chr22:29787625-29787626	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570967598	chr22:29787652-29787653	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558770361	chr22:29787653-29787654	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183057106	chr22:29787662-29787663	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533751023	chr22:29787740-29787741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540844104	chr22:29787787-29787788	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552720449	chr22:29787871-29787872	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147629975	chr22:29787918-29787919	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557245276	chr22:29787942-29787943	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574276294	chr22:29787961-29787962	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574404092	chr22:29787970-29787971	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541677744	chr22:29788041-29788042	Weak transcription Enhancers	Chromatin interactive region	1 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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29785000-29787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29785000-29787600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:29785000-29788600	Weak transcription	A549	lung
4	chr22:29785000-29789000	Weak transcription	Fetal Heart	heart
5	chr22:29785000-29791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:29785200-29787200	Weak transcription	HepG2	liver
7	chr22:29785200-29788600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:29785200-29789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:29785200-29789000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:29785200-29790800	Weak transcription	Brain Anterior Caudate	brain
11	chr22:29785200-29790800	Weak transcription	K562	blood
12	chr22:29785400-29787200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:29785400-29787200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:29785400-29787200	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:29785400-29787400	Weak transcription	Adipose Nuclei	Adipose
16	chr22:29785400-29787600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:29785400-29787600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:29785400-29788600	Weak transcription	Fetal Intestine Large	intestine
19	chr22:29785400-29788600	Weak transcription	Fetal Intestine Small	intestine
20	chr22:29785400-29788600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:29785400-29788600	Weak transcription	Stomach Mucosa	stomach
22	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:29785400-29788800	Weak transcription	Liver	Liver
27	chr22:29785400-29788800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:29785400-29788800	Weak transcription	Fetal Thymus	thymus
29	chr22:29785400-29788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:29785400-29788800	Weak transcription	GM12878-XiMat	blood
31	chr22:29785400-29789000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr22:29785400-29789000	Weak transcription	Pancreas	Pancrea
33	chr22:29785400-29789000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:29785400-29789000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr22:29785400-29789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:29785400-29789400	Weak transcription	Placenta	Placenta
37	chr22:29785400-29790600	Weak transcription	Colonic Mucosa	Colon
38	chr22:29785400-29790800	Weak transcription	Primary B cells from cord blood	blood
39	chr22:29785400-29790800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:29785400-29790800	Weak transcription	Brain Angular Gyrus	brain
41	chr22:29785400-29790800	Weak transcription	Brain Substantia Nigra	brain
42	chr22:29785400-29790800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:29785400-29790800	Weak transcription	Spleen	Spleen
44	chr22:29785400-29791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:29785400-29791200	Weak transcription	Colon Smooth Muscle	Colon
46	chr22:29785400-29791200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr22:29785400-29792200	Weak transcription	Small Intestine	intestine
48	chr22:29785600-29789200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:29785600-29790800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:29785800-29790800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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