Variant report

Variant	esv7588
Chromosome Location	chr1:227142941-227144981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227130077..227134039-chr1:227140134..227143370,3	K562	blood:
2	chr1:227141481..227143140-chr1:227143773..227146824,3	K562	blood:
3	chr1:227143600..227145701-chr1:227151650..227153893,2	K562	blood:
4	chr1:227135011..227140362-chr1:227140387..227143822,8	K562	blood:

Variant related genes	Relation type
ENSG00000163050	chromatin interactions
ENSG00000228525	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533067194	chr1:227142951-227142952	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146060346	chr1:227142954-227142955	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564691108	chr1:227142971-227142972	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528643148	chr1:227142973-227142974	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372618253	chr1:227142976-227142977	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6689202	chr1:227142986-227142987	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377111730	chr1:227142996-227142997	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568707151	chr1:227143020-227143021	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs180728611	chr1:227143031-227143032	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370619869	chr1:227143057-227143058	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201398732	chr1:227143058-227143059	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550709695	chr1:227143068-227143069	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375648279	chr1:227143073-227143074	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77430102	chr1:227143075-227143076	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74553131	chr1:227143089-227143090	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371209211	chr1:227143091-227143092	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75096606	chr1:227143098-227143099	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568866698	chr1:227143112-227143113	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375954984	chr1:227143114-227143115	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116654986	chr1:227143124-227143125	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80038847	chr1:227143135-227143136	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77986880	chr1:227143138-227143139	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77210714	chr1:227143147-227143148	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75519295	chr1:227143194-227143195	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75494614	chr1:227143201-227143202	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190352514	chr1:227143232-227143233	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76782466	chr1:227143264-227143265	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201977591	chr1:227143266-227143267	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72099932	chr1:227143270-227143271	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147909506	chr1:227143273-227143274	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71179183	chr1:227143274-227143275	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371651840	chr1:227143294-227143295	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560649901	chr1:227143312-227143313	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141233305	chr1:227143333-227143334	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189378672	chr1:227143386-227143387	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572987556	chr1:227143396-227143397	Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373708387	chr1:227143435-227143436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71648407	chr1:227143497-227143498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533778654	chr1:227143530-227143531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201257208	chr1:227143546-227143547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs35526197	chr1:227143549-227143550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71648408	chr1:227143559-227143560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555532162	chr1:227143586-227143587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112649661	chr1:227143589-227143590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375771992	chr1:227143591-227143592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71574591	chr1:227143597-227143598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112314764	chr1:227143614-227143615	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544452172	chr1:227143618-227143619	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562469331	chr1:227143620-227143621	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577682920	chr1:227143639-227143640	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227129000-227162600	Weak transcription	Fetal Kidney	kidney
2	chr1:227130200-227145600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:227130200-227146000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:227130400-227154600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:227131400-227153800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:227131800-227147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:227133000-227146200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:227133200-227149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:227134400-227144800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:227134400-227151800	Weak transcription	Small Intestine	intestine
12	chr1:227134400-227153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:227134600-227150200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:227134800-227145000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:227134800-227149000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:227134800-227150200	Weak transcription	Brain Angular Gyrus	brain
17	chr1:227135000-227150600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:227135200-227149800	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:227135200-227152600	Weak transcription	Colonic Mucosa	Colon
20	chr1:227135200-227158000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:227135400-227146800	Weak transcription	Stomach Mucosa	stomach
22	chr1:227136200-227144800	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:227136200-227145200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:227136200-227152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:227136400-227146600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:227136400-227149200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:227137000-227146200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:227137400-227150400	Weak transcription	Aorta	Aorta
29	chr1:227137800-227146600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:227138000-227149000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:227138000-227152000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:227138400-227147800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:227138800-227143000	Enhancers	Adipose Nuclei	Adipose
34	chr1:227139200-227151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:227139400-227149800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:227139400-227150600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:227140000-227150200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:227140000-227152200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:227140000-227152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:227140000-227153000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:227141200-227143000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:227141200-227143000	Strong transcription	HepG2	liver
43	chr1:227141200-227143200	Enhancers	Left Ventricle	heart
44	chr1:227141400-227149600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:227141600-227144800	Weak transcription	Psoas Muscle	Psoas
46	chr1:227141800-227145200	Weak transcription	Liver	Liver
47	chr1:227142000-227143000	Enhancers	Lung	lung
48	chr1:227142200-227143000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:227142200-227157800	Weak transcription	Fetal Lung	lung
50	chr1:227142400-227143000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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