Variant report

Variant	esv3364075
Chromosome Location	chr1:224388348-224388763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
2	chr1:224384946..224387386-chr1:224387825..224389456,2	K562	blood:
3	chr1:224369875..224372093-chr1:224387688..224389925,2	MCF-7	breast:
4	chr1:224386204..224388936-chr1:224390782..224393478,2	K562	blood:

Variant related genes	Relation type
ENSG00000143753	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185037724	chr1:224388412-224388413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190536184	chr1:224388424-224388425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147019894	chr1:224388439-224388440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544501086	chr1:224388444-224388445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181067064	chr1:224388471-224388472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533247684	chr1:224388494-224388495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544909603	chr1:224388504-224388505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145814013	chr1:224388507-224388508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10916469	chr1:224388544-224388545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184431756	chr1:224388545-224388546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567279932	chr1:224388622-224388623	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201931558	chr1:224388644-224388645	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374369874	chr1:224388650-224388651	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549062110	chr1:224388684-224388685	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72755904	chr1:224388694-224388695	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537246123	chr1:224388697-224388698	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549744572	chr1:224388698-224388699	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551186385	chr1:224388713-224388714	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10916470	chr1:224388737-224388738	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs539302190	chr1:224388753-224388754	Weak transcription Enhancers Genic enhancers	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
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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224372400-224389200	Weak transcription	Fetal Kidney	kidney
2	chr1:224372600-224391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:224372600-224392400	Weak transcription	Ovary	ovary
4	chr1:224372600-224392600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:224372800-224392000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:224373200-224392400	Weak transcription	Colonic Mucosa	Colon
7	chr1:224373400-224392400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:224373400-224392400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:224373400-224392600	Weak transcription	Psoas Muscle	Psoas
10	chr1:224373600-224392400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:224373800-224392400	Weak transcription	Esophagus	oesophagus
12	chr1:224373800-224392400	Weak transcription	Fetal Heart	heart
13	chr1:224373800-224392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:224374000-224391000	Weak transcription	Spleen	Spleen
15	chr1:224374000-224392400	Weak transcription	Pancreas	Pancrea
16	chr1:224377400-224392400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:224377600-224388800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:224377800-224392400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:224380400-224390800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:224380400-224391000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:224380400-224391200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:224380400-224392400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:224380600-224391000	Weak transcription	Hela-S3	cervix
24	chr1:224380600-224391200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:224381400-224390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:224381400-224390800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:224381400-224390800	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:224381400-224390800	Weak transcription	Fetal Lung	lung
29	chr1:224381400-224390800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:224381400-224390800	Weak transcription	HSMM	muscle
31	chr1:224381400-224390800	Weak transcription	HSMMtube	muscle
32	chr1:224381400-224391400	Weak transcription	K562	blood
33	chr1:224381400-224392000	Weak transcription	HUVEC	blood vessel
34	chr1:224381400-224392400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:224381400-224392400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:224381600-224388800	Weak transcription	A549	lung
37	chr1:224381600-224390800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:224381600-224390800	Weak transcription	NH-A	brain
39	chr1:224381600-224391000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:224381600-224391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:224381600-224392400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:224381600-224392400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:224381600-224392600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:224381600-224393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:224381800-224392400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:224382000-224390800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:224382000-224391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:224382000-224392400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:224382000-224392400	Weak transcription	Thymus	Thymus
50	chr1:224382200-224390600	Weak transcription	Fetal Thymus	thymus

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