Variant report

Variant	esv3453757
Chromosome Location	chr1:212972733-212973587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212973285..212975670-chr1:212976660..212979565,2	K562	blood:
2	chr1:212963881..212969695-chr1:212970420..212976060,10	K562	blood:
3	chr1:212973105..212975746-chr1:212981833..212983410,2	K562	blood:
4	chr1:212956561..212959234-chr1:212973278..212975035,2	K562	blood:
5	chr1:212967889..212970692-chr1:212972432..212975770,4	K562	blood:

Variant related genes	Relation type
ENSG00000203705	chromatin interactions
ENSG00000117697	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191556875	chr1:212972928-212972929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183096218	chr1:212972990-212972991	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112339087	chr1:212972992-212972993	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113490946	chr1:212973008-212973009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374496508	chr1:212973036-212973037	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112228371	chr1:212973144-212973145	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73083765	chr1:212973148-212973149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs138343629	chr1:212973177-212973178	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78900751	chr1:212973203-212973204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570169828	chr1:212973205-212973206	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs36016385	chr1:212973206-212973207	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573345391	chr1:212973208-212973209	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539647006	chr1:212973216-212973217	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2940085	chr1:212973330-212973331	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76535563	chr1:212973332-212973333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576970885	chr1:212973414-212973415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544124215	chr1:212973488-212973489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149610454	chr1:212973489-212973490	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560677465	chr1:212973504-212973505	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529970004	chr1:212973515-212973516	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547762797	chr1:212973542-212973543	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559739633	chr1:212973557-212973558	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147302990	chr1:212973566-212973567	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552259892	chr1:212973570-212973571	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212965800-212992600	Weak transcription	Lung	lung
2	chr1:212966000-212974800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212966000-212981200	Weak transcription	Esophagus	oesophagus
4	chr1:212966000-212983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
6	chr1:212966200-212973800	Weak transcription	Colonic Mucosa	Colon
7	chr1:212966200-212975600	Weak transcription	HMEC	breast
8	chr1:212966200-212979800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:212966400-212977400	Weak transcription	Hela-S3	cervix
10	chr1:212966400-212984000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:212966400-212985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:212966400-212988200	Weak transcription	Fetal Heart	heart
13	chr1:212966400-212989600	Weak transcription	Fetal Brain Male	brain
14	chr1:212966400-212990200	Weak transcription	Right Ventricle	heart
15	chr1:212966800-212977600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:212966800-212989600	Weak transcription	Psoas Muscle	Psoas
17	chr1:212967000-212979000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:212967000-212984400	Weak transcription	Spleen	Spleen
19	chr1:212967200-212975400	Weak transcription	HSMM	muscle
20	chr1:212967200-212984000	Weak transcription	NHDF-Ad	bronchial
21	chr1:212967200-212988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:212967200-212989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:212967200-212989600	Weak transcription	NHLF	lung
24	chr1:212968000-212980000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:212968000-212987400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:212968400-212974400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:212968400-212988000	Weak transcription	Stomach Mucosa	stomach
28	chr1:212968600-212980200	Weak transcription	HUVEC	blood vessel
29	chr1:212968800-212974600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:212969000-212973400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:212969000-212973800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:212969000-212975400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:212969000-212976200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:212969000-212976400	Strong transcription	Liver	Liver
35	chr1:212969000-212980000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:212969000-212980000	Strong transcription	Dnd41	blood
37	chr1:212969000-212982600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:212969000-212982600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:212969000-212983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:212969200-212973400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:212969200-212976200	Strong transcription	Fetal Thymus	thymus
42	chr1:212969400-212972800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:212969400-212978600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212969600-212989000	Weak transcription	HepG2	liver
45	chr1:212969600-212993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:212969800-212975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:212970000-212973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:212970000-212975600	Strong transcription	Brain Angular Gyrus	brain
49	chr1:212970000-212976200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:212970000-212976200	Strong transcription	Adipose Nuclei	Adipose

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