Variant report

Variant	esv3372851
Chromosome Location	chr22:30099802-30101000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr22:30096975..30100180-chr22:30101896..30105574,4	K562	blood:
4	chr22:30098350..30101826-chr22:30195223..30196896,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76667887	chr22:30099857-30099858	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs578062827	chr22:30099873-30099874	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	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
4	rs577460640	chr22:30099877-30099878	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541416023	chr22:30099886-30099887	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553438550	chr22:30099891-30099892	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574751729	chr22:30099947-30099948	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542131368	chr22:30099957-30099958	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	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
10	rs116294067	chr22:30099995-30099996	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545722834	chr22:30100082-30100083	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574264468	chr22:30100096-30100097	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563837926	chr22:30100128-30100129	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528203364	chr22:30100130-30100131	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2857630	chr22:30100217-30100218	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189584817	chr22:30100237-30100238	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567737364	chr22:30100240-30100241	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530281571	chr22:30100333-30100334	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548871293	chr22:30100337-30100338	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192098123	chr22:30100372-30100373	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570292484	chr22:30100375-30100376	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560313354	chr22:30100376-30100377	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537648921	chr22:30100379-30100380	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140089	chr22:30100413-30100414	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558913460	chr22:30100428-30100429	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115299072	chr22:30100429-30100430	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139476263	chr22:30100457-30100458	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545159697	chr22:30100476-30100477	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553376943	chr22:30100512-30100513	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115256323	chr22:30100524-30100525	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565311424	chr22:30100527-30100528	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557215128	chr22:30100560-30100561	Bivalent Enhancer Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575499656	chr22:30100622-30100623	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545959217	chr22:30100644-30100645	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560080421	chr22:30100649-30100650	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528144501	chr22:30100730-30100731	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539940619	chr22:30100732-30100733	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561305092	chr22:30100741-30100742	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12167499	chr22:30100793-30100794	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528739358	chr22:30100916-30100917	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544993481	chr22:30100990-30100991	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking 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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30095800-30101400	Enhancers	HSMMtube	muscle
2	chr22:30095800-30101600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
5	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
6	chr22:30096400-30100600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:30096400-30100800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:30096400-30101400	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
10	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30096400-30103600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr22:30096600-30100400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr22:30096600-30102000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr22:30096600-30103800	Enhancers	Brain Cingulate Gyrus	brain
16	chr22:30096800-30100200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr22:30096800-30101400	Enhancers	A549	lung
18	chr22:30097000-30100000	Enhancers	Brain Angular Gyrus	brain
19	chr22:30097000-30102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:30097000-30106400	Weak transcription	Psoas Muscle	Psoas
21	chr22:30097600-30101000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:30097800-30100400	Enhancers	Brain Substantia Nigra	brain
23	chr22:30098000-30100800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr22:30098000-30102800	Weak transcription	Esophagus	oesophagus
25	chr22:30098200-30100000	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr22:30098200-30101600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30098400-30100000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
28	chr22:30098400-30100000	Enhancers	Primary B cells from cord blood	blood
29	chr22:30098400-30101000	Weak transcription	Pancreas	Pancrea
30	chr22:30098600-30100000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr22:30098600-30100000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:30098600-30100200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:30098800-30100000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr22:30098800-30100400	Weak transcription	NHLF	lung
35	chr22:30098800-30102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
37	chr22:30099000-30100000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30099000-30102000	Enhancers	Fetal Lung	lung
39	chr22:30099200-30100000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr22:30099200-30100000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr22:30099200-30101600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:30099400-30100000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:30099400-30100000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr22:30099400-30100200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr22:30099400-30101000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr22:30099400-30103600	Enhancers	Brain Germinal Matrix	brain
47	chr22:30099600-30100000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr22:30099600-30100000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr22:30099600-30100000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr22:30099600-30100200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links