Variant report

Variant	esv3527314
Chromosome Location	chr1:209935990-209937997
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	CTCF	chr1:209935840-209935990	HEK293	kidney:	n/a	n/a
2	GTF2F1	chr1:209936766-209936773	K562	blood:	n/a	n/a
3	MAZ	chr1:209937211-209937269	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:209934444-209936436	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:209935988-209936216	GM12878	blood:	n/a	n/a
6	SPI1	chr1:209936192-209936388	K562	blood:	n/a	chr1:209936303-209936312 chr1:209936300-209936313 chr1:209936304-209936311

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:
2	chr1:209937467..209939616-chr1:209957476..209959399,2	K562	blood:

Variant related genes	Relation type
TRAF3IP3	TF binding region
ENSG00000162757	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532039513	chr1:209936005-209936006	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2076152	chr1:209936060-209936061	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs113990173	chr1:209936064-209936065	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149537102	chr1:209936074-209936075	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184562171	chr1:209936127-209936128	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547951975	chr1:209936135-209936136	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373719712	chr1:209936139-209936140	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566670342	chr1:209936145-209936146	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188910155	chr1:209936172-209936173	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369602590	chr1:209936184-209936185	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558796392	chr1:209936195-209936196	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150703631	chr1:209936196-209936197	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372806844	chr1:209936218-209936219	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370215722	chr1:209936235-209936236	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373637578	chr1:209936247-209936248	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77130935	chr1:209936282-209936283	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185792846	chr1:209936290-209936291	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145911641	chr1:209936316-209936317	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138139055	chr1:209936348-209936349	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559864017	chr1:209936356-209936357	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149573785	chr1:209936367-209936368	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201577088	chr1:209936382-209936383	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371035563	chr1:209936386-209936387	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375379442	chr1:209936410-209936411	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368347080	chr1:209936451-209936452	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200157968	chr1:209936455-209936456	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545950671	chr1:209936465-209936466	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7548219	chr1:209936466-209936467	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs541603778	chr1:209936476-209936477	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375288453	chr1:209936484-209936485	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531883244	chr1:209936523-209936524	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143289617	chr1:209936533-209936534	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148313669	chr1:209936559-209936560	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529352563	chr1:209936568-209936569	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547814136	chr1:209936570-209936571	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6540555	chr1:209936571-209936572	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6540556	chr1:209936631-209936632	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552370575	chr1:209936652-209936653	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570651167	chr1:209936665-209936666	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7536882	chr1:209936673-209936674	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371695095	chr1:209936778-209936779	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143123645	chr1:209936782-209936783	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535040314	chr1:209936785-209936786	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376499875	chr1:209936796-209936797	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368909821	chr1:209936797-209936798	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553362520	chr1:209936826-209936827	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372288997	chr1:209936834-209936835	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17015169	chr1:209936914-209936915	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs545290075	chr1:209936949-209936950	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34406510	chr1:209936964-209936965	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	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
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
Glioblastoma multiforme	17002787	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
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	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
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
3	chr1:209930800-209938800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209931000-209941800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:209931000-209942000	Weak transcription	Esophagus	oesophagus
6	chr1:209931000-209943200	Weak transcription	Lung	lung
7	chr1:209931000-209943600	Weak transcription	Gastric	stomach
8	chr1:209931800-209940600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:209932000-209936800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:209932200-209941200	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:209932200-209941400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:209932200-209941800	Weak transcription	Colonic Mucosa	Colon
13	chr1:209932200-209942000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:209932600-209936000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:209932600-209937800	Strong transcription	Dnd41	blood
16	chr1:209932600-209940000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:209932800-209938000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:209932800-209939400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:209933000-209937800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:209933000-209940000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:209933000-209940800	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr1:209933200-209936200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:209933200-209939400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:209933200-209939400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:209933400-209939400	Strong transcription	Thymus	Thymus
26	chr1:209933400-209940600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:209933600-209937800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:209933600-209940800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:209933800-209938000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:209933800-209939200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:209933800-209941600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:209934000-209941600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:209934400-209937800	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:209934600-209941600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:209934800-209937800	Strong transcription	GM12878-XiMat	blood
36	chr1:209934800-209939200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:209934800-209940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:209934800-209941800	Weak transcription	Right Ventricle	heart
39	chr1:209934800-209942000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:209934800-209942000	Weak transcription	Right Atrium	heart
41	chr1:209935000-209940600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:209935200-209937800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:209935200-209938200	Strong transcription	Primary B cells from cord blood	blood
44	chr1:209935200-209940600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:209935400-209937000	Strong transcription	Spleen	Spleen
46	chr1:209935400-209937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:209935400-209938800	Genic enhancers	Primary T cells from cord blood	blood
48	chr1:209935400-209939200	Strong transcription	Fetal Thymus	thymus
49	chr1:209935600-209936600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:209935800-209939400	Strong transcription	Primary B cells from peripheral blood	blood

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