Variant report

Variant	esv3351652
Chromosome Location	chr3:141682799-141684772
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

Variant related genes	Relation type
TFDP2	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376975635	chr3:141682799-141682800	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368277736	chr3:141682800-141682801	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3792409	chr3:141682825-141682826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561343603	chr3:141682829-141682830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528768869	chr3:141682921-141682922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547008591	chr3:141682933-141682934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138009600	chr3:141683013-141683014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4683413	chr3:141683071-141683072	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs4683653	chr3:141683097-141683098	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114695705	chr3:141683112-141683113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11569260	chr3:141683179-141683180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569294367	chr3:141683213-141683214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573787131	chr3:141683214-141683215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180700788	chr3:141683231-141683232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11569259	chr3:141683281-141683282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs185571769	chr3:141683320-141683321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370641661	chr3:141683356-141683357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11569258	chr3:141683362-141683363	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557702334	chr3:141683406-141683407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11569257	chr3:141683415-141683416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374067885	chr3:141683435-141683436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563274622	chr3:141683442-141683443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370471782	chr3:141683479-141683480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201893442	chr3:141683492-141683493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78519009	chr3:141683508-141683509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190229151	chr3:141683512-141683513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75243594	chr3:141683563-141683564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75023974	chr3:141683592-141683593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113972943	chr3:141683623-141683624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565402326	chr3:141683664-141683665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368639797	chr3:141683727-141683728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74927185	chr3:141683749-141683750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75707579	chr3:141683767-141683768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568927125	chr3:141683825-141683826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111451425	chr3:141683843-141683844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182445424	chr3:141683911-141683912	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567450738	chr3:141683949-141683950	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs576051560	chr3:141683983-141683984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187523099	chr3:141684076-141684077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191795367	chr3:141684110-141684111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571516877	chr3:141684112-141684113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77433437	chr3:141684158-141684159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556961096	chr3:141684255-141684256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78674047	chr3:141684265-141684266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542705654	chr3:141684272-141684273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111687413	chr3:141684310-141684311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572907110	chr3:141684336-141684337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540425012	chr3:141684347-141684348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183919565	chr3:141684367-141684368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28627703	chr3:141684400-141684401	Weak transcription Strong transcription	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:160 , 50 per page) page: 1 2 3 4

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	chr3:141670000-141683600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:141670000-141684000	Weak transcription	Colonic Mucosa	Colon
12	chr3:141671600-141697400	Weak transcription	Gastric	stomach
13	chr3:141671800-141686400	Weak transcription	HepG2	liver
14	chr3:141671800-141691200	Weak transcription	Spleen	Spleen
15	chr3:141671800-141719000	Weak transcription	Placenta	Placenta
16	chr3:141671800-141724000	Weak transcription	Right Ventricle	heart
17	chr3:141671800-141735600	Weak transcription	Aorta	Aorta
18	chr3:141672000-141697000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:141672000-141700000	Weak transcription	Small Intestine	intestine
20	chr3:141672400-141688600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:141674400-141688000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:141674400-141690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:141674400-141708000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:141674600-141700400	Weak transcription	Esophagus	oesophagus
25	chr3:141674600-141712600	Weak transcription	Fetal Brain Male	brain
26	chr3:141675200-141684800	Strong transcription	Fetal Intestine Small	intestine
27	chr3:141675400-141683800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:141675400-141684800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr3:141675400-141687000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:141675400-141687200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:141675600-141683800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr3:141675600-141687200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:141675600-141687200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:141675600-141687200	Strong transcription	Thymus	Thymus
35	chr3:141675800-141683800	Strong transcription	Fetal Intestine Large	intestine
36	chr3:141675800-141687200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:141676000-141683000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:141676000-141683200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:141676000-141683400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:141676000-141687000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:141676000-141687000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:141676000-141687000	Strong transcription	Fetal Thymus	thymus
43	chr3:141676200-141703800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:141676800-141684200	Weak transcription	Fetal Heart	heart
45	chr3:141676800-141688400	Weak transcription	Fetal Kidney	kidney
46	chr3:141677400-141696200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:141677800-141691200	Weak transcription	Brain Anterior Caudate	brain
48	chr3:141677800-141739000	Weak transcription	Left Ventricle	heart
49	chr3:141678200-141688600	Weak transcription	Primary B cells from cord blood	blood
50	chr3:141678600-141688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links