Variant report

Variant	esv3406339
Chromosome Location	chr22:27705377-27707925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr22:27706842-27708052	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr22:27707700-27707850	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr22:27707760-27707910	HBMEC	blood vessel:	n/a	n/a
4	E2F6	chr22:27707230-27707788	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr22:27707076-27708048	H1-hESC	embryonic stem cell:	n/a	n/a
6	ESR1	chr22:27705768-27705996	T-47D	breast:	n/a	n/a
7	ESR1	chr22:27705753-27706032	T-47D	breast:	n/a	n/a
8	ESR1	chr22:27705771-27706068	T-47D	breast:	n/a	n/a
9	ESR1	chr22:27705732-27706031	T-47D	breast:	n/a	n/a
10	MAX	chr22:27707271-27707953	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr22:27707373-27707955	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr22:27707275-27707944	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr22:27707489-27708099	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr22:27707479-27707819	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:27706918-27707194	MCF-7	breast:	n/a	n/a
16	POLR2A	chr22:27707434-27707750	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr22:27707068-27707114	MCF-7	breast:	n/a	n/a
18	POLR2A	chr22:27707245-27708228	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr22:27707226-27709110	H1-neurons	neurons:	n/a	n/a
20	RAD21	chr22:27707625-27708030	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr22:27707702-27708018	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr22:27707106-27707480	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr22:27707271-27708601	H1-neurons	neurons:	n/a	n/a
24	REST	chr22:27706982-27709060	H1-neurons	neurons:	n/a	n/a
25	SIN3A	chr22:27707666-27708202	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF7L2	chr22:27705957-27706035	Hela-S3	cervix:	n/a	n/a
27	YY1	chr22:27707336-27707650	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr22:27707124-27708043	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27707736..27710195-chr22:27719270..27720776,2	MCF-7	breast:
2	chr22:27643403..27644410-chr22:27705456..27706322,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-8	chr22:27706612-27711010	ENSG00000226741
2	lnc-CRYBA4-8	chr22:27706612-27711010	XLOC_014197

No data

Variant related genes	Relation type
ENSG00000226741	TF binding region
PAIP2	miRNA target sites

Extended variants
information (count: 127 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189975504	chr22:27705410-27705411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74369801	chr22:27705455-27705456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374190185	chr22:27705495-27705496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556558352	chr22:27705509-27705510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200867635	chr22:27705562-27705563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529986686	chr22:27705575-27705576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149210681	chr22:27705578-27705579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181194110	chr22:27705582-27705583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560592589	chr22:27705583-27705584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112703158	chr22:27705585-27705586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543242035	chr22:27705587-27705588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202108198	chr22:27705588-27705589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561403302	chr22:27705589-27705590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532078739	chr22:27705591-27705592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75449631	chr22:27705623-27705624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111471807	chr22:27705639-27705640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117270694	chr22:27705664-27705665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55826249	chr22:27705687-27705688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55759797	chr22:27705699-27705700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565471358	chr22:27705718-27705719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185584386	chr22:27705731-27705732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548410179	chr22:27705744-27705745	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569838205	chr22:27705749-27705750	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs114771867	chr22:27705760-27705761	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533762002	chr22:27705766-27705767	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs513674	chr22:27705776-27705777	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs578052618	chr22:27705797-27705798	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539053609	chr22:27705856-27705857	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs190687584	chr22:27705858-27705859	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182896173	chr22:27705859-27705860	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542851002	chr22:27705866-27705867	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561570217	chr22:27705901-27705902	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs8135463	chr22:27705922-27705923	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200008287	chr22:27705939-27705940	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs8135561	chr22:27705940-27705941	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146797085	chr22:27705946-27705947	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531965151	chr22:27705961-27705962	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs186455008	chr22:27705967-27705968	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs117461143	chr22:27705994-27705995	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs516155	chr22:27706005-27706006	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191962484	chr22:27706008-27706009	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569782072	chr22:27706094-27706095	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs139202055	chr22:27706136-27706137	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs375607215	chr22:27706182-27706183	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs552416085	chr22:27706212-27706213	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs183018856	chr22:27706225-27706226	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs187552493	chr22:27706242-27706243	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs6005369	chr22:27706244-27706245	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs115414247	chr22:27706246-27706247	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs536711735	chr22:27706257-27706258	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21509527	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
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Cancer	21183584	CNVD
Breast cancer	17142309	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27697000-27705800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27698600-27706200	Weak transcription	Brain Germinal Matrix	brain
3	chr22:27703400-27706200	Weak transcription	Fetal Brain Female	brain
4	chr22:27703400-27706800	Weak transcription	Fetal Intestine Large	intestine
5	chr22:27703600-27706200	Enhancers	Fetal Muscle Leg	muscle
6	chr22:27703600-27706800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:27704000-27705800	Weak transcription	Ovary	ovary
8	chr22:27704200-27708600	Weak transcription	Right Atrium	heart
9	chr22:27704600-27705600	Weak transcription	Adipose Nuclei	Adipose
10	chr22:27704600-27705800	Weak transcription	Fetal Stomach	stomach
11	chr22:27704600-27707600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:27705200-27705600	Weak transcription	Fetal Brain Male	brain
13	chr22:27705600-27706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:27705600-27706400	Enhancers	Adipose Nuclei	Adipose
15	chr22:27705600-27708400	Enhancers	Fetal Brain Male	brain
16	chr22:27705800-27706000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:27705800-27706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:27705800-27706000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr22:27705800-27706000	Bivalent Enhancer	Liver	Liver
20	chr22:27705800-27706200	Enhancers	Aorta	Aorta
21	chr22:27705800-27706800	Enhancers	Fetal Stomach	stomach
22	chr22:27705800-27707800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:27705800-27708400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr22:27705800-27709400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:27705800-27710800	Enhancers	Ovary	ovary
26	chr22:27706000-27706200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:27706000-27706200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr22:27706000-27706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:27706000-27706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:27706000-27706800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:27706000-27708400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:27706000-27709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:27706000-27709400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr22:27706000-27709600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:27706200-27707000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:27706200-27707000	Enhancers	Fetal Brain Female	brain
37	chr22:27706200-27707600	Enhancers	Brain Germinal Matrix	brain
38	chr22:27706200-27708000	Weak transcription	Aorta	Aorta
39	chr22:27706200-27708200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr22:27706600-27708400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:27706800-27707000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr22:27706800-27707000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr22:27706800-27707000	Enhancers	Brain Anterior Caudate	brain
44	chr22:27706800-27707000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:27706800-27707000	Bivalent Enhancer	Fetal Kidney	kidney
46	chr22:27706800-27707000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr22:27706800-27707200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr22:27706800-27707200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:27706800-27707200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr22:27706800-27707200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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