Variant report

Variant	esv2603048
Chromosome Location	chr1:222812642-222814132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:222813216-222813318	SH-SY5Y	brain:	n/a	n/a
2	IRF1	chr1:222812796-222812868	K562	blood:	n/a	n/a
3	POLR2A	chr1:222813172-222813299	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:222813583-222813711	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222812494..222814477-chr1:222837950..222840377,2	K562	blood:
2	chr1:222809458..222812723-chr1:222815888..222818571,3	MCF-7	breast:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000154305	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371066228	chr1:222812732-222812733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184587674	chr1:222812812-222812813	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561425053	chr1:222812843-222812844	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs573374579	chr1:222812959-222812960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543882961	chr1:222812979-222812980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562466800	chr1:222813027-222813028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190253049	chr1:222813071-222813072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551652477	chr1:222813108-222813109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560127225	chr1:222813112-222813113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574781732	chr1:222813164-222813165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192850158	chr1:222813213-222813214	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs11316531	chr1:222813321-222813322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567780210	chr1:222813389-222813390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538307836	chr1:222813504-222813505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549915805	chr1:222813535-222813536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571569806	chr1:222813602-222813603	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539008578	chr1:222813654-222813655	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554432081	chr1:222813668-222813669	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2133187	chr1:222813725-222813726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74145520	chr1:222813742-222813743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151026562	chr1:222813743-222813744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572143720	chr1:222813748-222813749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2133188	chr1:222813753-222813754	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs376375790	chr1:222813774-222813775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544251265	chr1:222813777-222813778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555935205	chr1:222813793-222813794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185752344	chr1:222813881-222813882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545007599	chr1:222813886-222813887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560459779	chr1:222813934-222813935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370381002	chr1:222813979-222813980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140817628	chr1:222814059-222814060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542859640	chr1:222814078-222814079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374946609	chr1:222814091-222814092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:147 , 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	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222793200-222816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:222793200-222816600	Weak transcription	Hela-S3	cervix
6	chr1:222793600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:222794600-222813400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:222794600-222813600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:222794600-222814000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:222794600-222815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:222794800-222813200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:222794800-222813600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:222795400-222813400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:222799600-222815000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:222801000-222816600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:222801200-222815200	Strong transcription	HSMM	muscle
17	chr1:222801400-222816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:222801600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:222801800-222815000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:222802000-222813800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:222802200-222816800	Weak transcription	Stomach Mucosa	stomach
22	chr1:222802400-222816600	Weak transcription	HMEC	breast
23	chr1:222802600-222816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:222802800-222816600	Weak transcription	GM12878-XiMat	blood
25	chr1:222803000-222816800	Weak transcription	Colonic Mucosa	Colon
26	chr1:222803200-222816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:222803200-222816600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:222803800-222812800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:222803800-222816600	Weak transcription	NHLF	lung
30	chr1:222804400-222817000	Weak transcription	Fetal Brain Male	brain
31	chr1:222805600-222814200	Weak transcription	HSMMtube	muscle
32	chr1:222805800-222816600	Weak transcription	Fetal Heart	heart
33	chr1:222805800-222817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:222806400-222816600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:222806400-222816600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:222806400-222816600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:222806600-222816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:222806600-222816600	Weak transcription	HUVEC	blood vessel
39	chr1:222806800-222816600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:222807000-222816400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:222807000-222816600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:222807000-222816600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:222807000-222816800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:222807000-222816800	Weak transcription	Right Ventricle	heart
45	chr1:222807200-222814600	Weak transcription	Fetal Brain Female	brain
46	chr1:222807200-222816600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:222807200-222816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:222807200-222816600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:222807200-222816800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:222807400-222816600	Weak transcription	Brain Cingulate Gyrus	brain

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