Variant report

Variant	esv3463555
Chromosome Location	chr3:141683870-141686109
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	POLR2A	chr3:141683895-141683960	K562	blood:	n/a	n/a
2	POLR2A	chr3:141685334-141685419	HUVEC	blood vessel:	n/a	n/a
3	USF1	chr3:141685585-141685717	HepG2	liver:	n/a	chr3:141685676-141685687
4	ZNF384	chr3:141685693-141685805	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141679111..141682072-chr3:141685599..141688176,2	K562	blood:

Variant related genes	Relation type
TFDP2	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182445424	chr3:141683911-141683912	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567450738	chr3:141683949-141683950	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs576051560	chr3:141683983-141683984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187523099	chr3:141684076-141684077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191795367	chr3:141684110-141684111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571516877	chr3:141684112-141684113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77433437	chr3:141684158-141684159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556961096	chr3:141684255-141684256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78674047	chr3:141684265-141684266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542705654	chr3:141684272-141684273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111687413	chr3:141684310-141684311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572907110	chr3:141684336-141684337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540425012	chr3:141684347-141684348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183919565	chr3:141684367-141684368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28627703	chr3:141684400-141684401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369657522	chr3:141684409-141684410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565158943	chr3:141684434-141684435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372030999	chr3:141684435-141684436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375731376	chr3:141684436-141684437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533712076	chr3:141684451-141684452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532633660	chr3:141684466-141684467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58441213	chr3:141684467-141684468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547311354	chr3:141684504-141684505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76948872	chr3:141684579-141684580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188866199	chr3:141684596-141684597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192403042	chr3:141684597-141684598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183665808	chr3:141684632-141684633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377182176	chr3:141684654-141684655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548653919	chr3:141684755-141684756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566811061	chr3:141684756-141684757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527785757	chr3:141684778-141684779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546446735	chr3:141684797-141684798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548160139	chr3:141684808-141684809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74764982	chr3:141684843-141684844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397874436	chr3:141684844-141684845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150191373	chr3:141684855-141684856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148509959	chr3:141684864-141684865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191874987	chr3:141684878-141684879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535832579	chr3:141684890-141684891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142844605	chr3:141684910-141684911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557208637	chr3:141684944-141684945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568146854	chr3:141685023-141685024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113245576	chr3:141685038-141685039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536418163	chr3:141685078-141685079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12486685	chr3:141685090-141685091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558713392	chr3:141685101-141685102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538315288	chr3:141685147-141685148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577052451	chr3:141685164-141685165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192018246	chr3:141685226-141685227	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184161356	chr3:141685294-141685295	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141659200-141696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:141660600-141698200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:141666000-141697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:141666400-141687200	Strong transcription	Dnd41	blood
6	chr3:141667000-141685600	Weak transcription	Brain Substantia Nigra	brain
7	chr3:141668000-141686600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:141668600-141688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:141669600-141696800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:141670000-141684000	Weak transcription	Colonic Mucosa	Colon
11	chr3:141671600-141697400	Weak transcription	Gastric	stomach
12	chr3:141671800-141686400	Weak transcription	HepG2	liver
13	chr3:141671800-141691200	Weak transcription	Spleen	Spleen
14	chr3:141671800-141719000	Weak transcription	Placenta	Placenta
15	chr3:141671800-141724000	Weak transcription	Right Ventricle	heart
16	chr3:141671800-141735600	Weak transcription	Aorta	Aorta
17	chr3:141672000-141697000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:141672000-141700000	Weak transcription	Small Intestine	intestine
19	chr3:141672400-141688600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:141674400-141688000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:141674400-141690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:141674400-141708000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:141674600-141700400	Weak transcription	Esophagus	oesophagus
24	chr3:141674600-141712600	Weak transcription	Fetal Brain Male	brain
25	chr3:141675200-141684800	Strong transcription	Fetal Intestine Small	intestine
26	chr3:141675400-141684800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr3:141675400-141687000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:141675400-141687200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:141675600-141687200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:141675600-141687200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:141675600-141687200	Strong transcription	Thymus	Thymus
32	chr3:141675800-141687200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:141676000-141687000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:141676000-141687000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:141676000-141687000	Strong transcription	Fetal Thymus	thymus
36	chr3:141676200-141703800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:141676800-141684200	Weak transcription	Fetal Heart	heart
38	chr3:141676800-141688400	Weak transcription	Fetal Kidney	kidney
39	chr3:141677400-141696200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr3:141677800-141691200	Weak transcription	Brain Anterior Caudate	brain
41	chr3:141677800-141739000	Weak transcription	Left Ventricle	heart
42	chr3:141678200-141688600	Weak transcription	Primary B cells from cord blood	blood
43	chr3:141678600-141688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:141678800-141745600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:141679400-141690600	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:141679600-141697000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:141679800-141691400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:141680000-141686600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:141680000-141690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:141680000-141697800	Weak transcription	NH-A	brain

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