Variant report

Variant	esv3407139
Chromosome Location	chr22:30099177-30101725
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:30091150..30094109-chr22:30098424..30101093,2	K562	blood:
2	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
3	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
4	chr22:30098350..30101826-chr22:30195223..30196896,3	MCF-7	breast:
5	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
6	chr22:30096975..30100180-chr22:30101896..30105574,4	K562	blood:
7	chr22:30101634..30103485-chr22:30110793..30113259,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZMAT5-1	chr22:30101245-30101418	XLOC_014338

No data

Variant related genes	Relation type
ENSG00000100325	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200521150	chr22:30099178-30099179	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548452534	chr22:30099180-30099181	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557817734	chr22:30099195-30099196	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569629980	chr22:30099202-30099203	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537185204	chr22:30099229-30099230	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551854460	chr22:30099233-30099234	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570450392	chr22:30099234-30099235	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138072635	chr22:30099250-30099251	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554055454	chr22:30099265-30099266	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74373785	chr22:30099281-30099282	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77642545	chr22:30099282-30099283	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572450112	chr22:30099292-30099293	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544992423	chr22:30099341-30099342	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536423700	chr22:30099426-30099427	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555176909	chr22:30099430-30099431	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576423135	chr22:30099447-30099448	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187634638	chr22:30099448-30099449	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565086028	chr22:30099467-30099468	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs193221157	chr22:30099473-30099474	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541477521	chr22:30099547-30099548	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559682460	chr22:30099549-30099550	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530044120	chr22:30099556-30099557	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548389490	chr22:30099620-30099621	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563514464	chr22:30099626-30099627	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530496072	chr22:30099637-30099638	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552254077	chr22:30099653-30099654	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570314317	chr22:30099659-30099660	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185651543	chr22:30099698-30099699	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546239065	chr22:30099705-30099706	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566014733	chr22:30099755-30099756	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536560914	chr22:30099767-30099768	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554835007	chr22:30099774-30099775	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76667887	chr22:30099857-30099858	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578062827	chr22:30099873-30099874	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140088	chr22:30099874-30099875	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577460640	chr22:30099877-30099878	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541416023	chr22:30099886-30099887	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553438550	chr22:30099891-30099892	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574751729	chr22:30099947-30099948	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542131368	chr22:30099957-30099958	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs62227979	chr22:30099958-30099959	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116294067	chr22:30099995-30099996	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545722834	chr22:30100082-30100083	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574264468	chr22:30100096-30100097	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563837926	chr22:30100128-30100129	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528203364	chr22:30100130-30100131	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2857630	chr22:30100217-30100218	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189584817	chr22:30100237-30100238	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567737364	chr22:30100240-30100241	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530281571	chr22:30100333-30100334	Bivalent Enhancer Enhancers Weak transcription Active TSS	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
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
Melanoma	17363583	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30093000-30099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:30093800-30099200	Weak transcription	Aorta	Aorta
3	chr22:30095800-30101400	Enhancers	HSMMtube	muscle
4	chr22:30095800-30101600	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:30096000-30099200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
8	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
9	chr22:30096400-30099200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:30096400-30099400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:30096400-30099400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr22:30096400-30099800	Enhancers	Primary hematopoietic stem cells	blood
13	chr22:30096400-30099800	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr22:30096400-30100600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:30096400-30100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:30096400-30101400	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
18	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:30096400-30103600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:30096600-30099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr22:30096600-30100400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr22:30096600-30102000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr22:30096600-30103800	Enhancers	Brain Cingulate Gyrus	brain
25	chr22:30096800-30099400	Enhancers	Primary B cells from peripheral blood	blood
26	chr22:30096800-30099600	Enhancers	HSMM	muscle
27	chr22:30096800-30100200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr22:30096800-30101400	Enhancers	A549	lung
29	chr22:30097000-30099800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr22:30097000-30100000	Enhancers	Brain Angular Gyrus	brain
31	chr22:30097000-30102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30097000-30106400	Weak transcription	Psoas Muscle	Psoas
33	chr22:30097200-30099200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr22:30097400-30099800	Enhancers	Lung	lung
35	chr22:30097600-30099200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr22:30097600-30101000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:30097800-30099600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr22:30097800-30100400	Enhancers	Brain Substantia Nigra	brain
39	chr22:30098000-30100800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr22:30098000-30102800	Weak transcription	Esophagus	oesophagus
41	chr22:30098200-30099600	Weak transcription	Gastric	stomach
42	chr22:30098200-30099800	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr22:30098200-30100000	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr22:30098200-30101600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:30098400-30099400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr22:30098400-30100000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
47	chr22:30098400-30100000	Enhancers	Primary B cells from cord blood	blood
48	chr22:30098400-30101000	Weak transcription	Pancreas	Pancrea
49	chr22:30098600-30099400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:30098600-30099600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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