Variant report

Variant	esv3499233
Chromosome Location	chr1:227928464-227928863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227927986..227930376-chr1:227939048..227940998,2	K562	blood:
2	chr1:227926788..227928510-chr1:227944634..227947567,2	MCF-7	breast:
3	chr1:227926751..227929436-chr1:228101805..228104001,2	K562	blood:
4	chr1:227915265..227918095-chr1:227926782..227928720,2	K562	blood:

Variant related genes	Relation type
ENSG00000143740	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12123869	chr1:227928490-227928491	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142780263	chr1:227928494-227928495	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542495433	chr1:227928502-227928503	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147073703	chr1:227928512-227928513	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531179259	chr1:227928581-227928582	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569344317	chr1:227928627-227928628	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537805773	chr1:227928637-227928638	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552494927	chr1:227928646-227928647	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551820876	chr1:227928647-227928648	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528563634	chr1:227928659-227928660	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546603006	chr1:227928675-227928676	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568083795	chr1:227928686-227928687	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115319636	chr1:227928712-227928713	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550417512	chr1:227928720-227928721	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375423623	chr1:227928743-227928744	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111234245	chr1:227928756-227928757	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557645375	chr1:227928794-227928795	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566578458	chr1:227928812-227928813	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227923800-227935600	Weak transcription	Aorta	Aorta
2	chr1:227924000-227932000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:227924000-227935400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:227924000-227935600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:227924000-227936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:227924200-227930800	Weak transcription	NHEK	skin
7	chr1:227924200-227931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:227924200-227931600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:227924200-227931600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:227924200-227931800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:227924200-227932000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:227924200-227932400	Weak transcription	Fetal Thymus	thymus
13	chr1:227924200-227933800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:227924200-227933800	Weak transcription	HMEC	breast
15	chr1:227924200-227934600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:227924200-227934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:227924200-227935000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:227924200-227935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:227924200-227935000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:227924200-227935400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:227924200-227935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:227924200-227935400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:227924200-227935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:227924200-227935400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:227924200-227935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:227924200-227935400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:227924200-227935400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:227924200-227935600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:227924200-227935600	Weak transcription	Primary B cells from cord blood	blood
30	chr1:227924200-227935800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:227924200-227935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:227924200-227935800	Weak transcription	A549	lung
33	chr1:227924200-227936000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:227924200-227936000	Weak transcription	Fetal Kidney	kidney
35	chr1:227924200-227940800	Weak transcription	HSMMtube	muscle
36	chr1:227924200-227941200	Weak transcription	HSMM	muscle
37	chr1:227924200-227941200	Weak transcription	NHDF-Ad	bronchial
38	chr1:227924200-227941600	Weak transcription	Osteobl	bone
39	chr1:227924200-227942000	Weak transcription	Hela-S3	cervix
40	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
41	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:227924400-227931400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:227924400-227932000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:227924400-227935400	Weak transcription	Fetal Lung	lung
45	chr1:227924400-227935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:227924400-227936200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:227924600-227931800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:227924600-227935400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:227924800-227930200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:227924800-227931600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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