Variant report

Variant	esv3351619
Chromosome Location	chr1:222801947-222802386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222801864..222803416-chr1:222815988..222818056,2	K562	blood:

Variant related genes	Relation type
ENSG00000154305	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552173729	chr1:222801960-222801961	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371816838	chr1:222801973-222801974	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201688063	chr1:222802001-222802002	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2936053	chr1:222802006-222802007	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181227279	chr1:222802024-222802025	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375824764	chr1:222802037-222802038	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547271666	chr1:222802067-222802068	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200348323	chr1:222802098-222802099	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558132831	chr1:222802128-222802129	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536033655	chr1:222802152-222802153	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139128855	chr1:222802169-222802170	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569790380	chr1:222802181-222802182	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149965966	chr1:222802185-222802186	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199716123	chr1:222802193-222802194	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576862491	chr1:222802207-222802208	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375781158	chr1:222802216-222802217	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79662083	chr1:222802243-222802244	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374012804	chr1:222802247-222802248	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377652238	chr1:222802261-222802262	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141264239	chr1:222802267-222802268	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369196405	chr1:222802308-222802309	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372984794	chr1:222802309-222802310	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs61738963	chr1:222802327-222802328	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563113582	chr1:222802354-222802355	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74145517	chr1:222802357-222802358	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545848838	chr1:222802358-222802359	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373809958	chr1:222802368-222802369	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2936052	chr1:222802376-222802377	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528478939	chr1:222802385-222802386	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540927367	chr1:222802386-222802387	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:222792600-222802200	Weak transcription	Aorta	Aorta
4	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:222792800-222802000	Weak transcription	Colonic Mucosa	Colon
7	chr1:222793000-222802200	Weak transcription	HSMMtube	muscle
8	chr1:222793200-222802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:222793200-222802200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:222793200-222802200	Weak transcription	Right Ventricle	heart
11	chr1:222793200-222802800	Weak transcription	Gastric	stomach
12	chr1:222793200-222816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:222793200-222816600	Weak transcription	Hela-S3	cervix
14	chr1:222793600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:222794000-222806800	Strong transcription	Primary T cells from cord blood	blood
16	chr1:222794200-222802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:222794200-222805000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:222794600-222803600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:222794600-222807200	Strong transcription	Fetal Thymus	thymus
20	chr1:222794600-222809800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:222794600-222810400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:222794600-222810400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:222794600-222813400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:222794600-222813600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:222794600-222814000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:222794600-222815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:222794800-222803800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:222794800-222804000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:222794800-222813200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:222794800-222813600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:222795200-222807000	Strong transcription	HepG2	liver
32	chr1:222795200-222807600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:222795200-222807600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:222795200-222807800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:222795400-222806600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:222795400-222806800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:222795400-222807200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:222795400-222807600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:222795400-222810400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:222795400-222810600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:222795400-222810600	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:222795400-222812000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:222795400-222813400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:222795600-222803000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr1:222795600-222804000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:222795600-222807200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:222795600-222807200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:222795600-222810600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:222795800-222802400	Weak transcription	Psoas Muscle	Psoas
50	chr1:222795800-222803200	Strong transcription	Brain Anterior Caudate	brain

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