Variant report

Variant	esv3406449
Chromosome Location	chr3:179046583-179047151
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	chr3:179046789-179046885	GM12878	blood:	n/a	n/a
2	ZNF274	chr3:179046762-179047162	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179039445..179042481-chr3:179045775..179048078,4	MCF-7	breast:
2	chr3:179040612..179043524-chr3:179043815..179047485,6	K562	blood:

Variant related genes	Relation type
ZNF639	TF binding region
ENSG00000121864	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573256344	chr3:179046617-179046618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558993049	chr3:179046619-179046620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182433385	chr3:179046644-179046645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538360190	chr3:179046690-179046691	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7625719	chr3:179046742-179046743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574301697	chr3:179046814-179046815	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566999767	chr3:179046827-179046828	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540093233	chr3:179046860-179046861	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186713884	chr3:179046905-179046906	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564950715	chr3:179046934-179046935	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576422896	chr3:179046976-179046977	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113201594	chr3:179047008-179047009	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566156560	chr3:179047041-179047042	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562523218	chr3:179047042-179047043	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531271495	chr3:179047074-179047075	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548273000	chr3:179047083-179047084	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575205142	chr3:179047128-179047129	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9846648	chr3:179047138-179047139	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530364265	chr3:179047145-179047146	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179041800-179046600	Weak transcription	Gastric	stomach
2	chr3:179041800-179046600	Weak transcription	Small Intestine	intestine
3	chr3:179041800-179048000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:179042400-179051800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:179042600-179046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:179042600-179046600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:179042600-179046600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:179042600-179046600	Weak transcription	Brain Substantia Nigra	brain
9	chr3:179042600-179046600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:179042600-179048000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:179042600-179048000	Weak transcription	Colonic Mucosa	Colon
12	chr3:179042600-179054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:179042800-179046600	Weak transcription	Brain Angular Gyrus	brain
14	chr3:179042800-179046600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:179042800-179046600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:179042800-179046600	Weak transcription	Thymus	Thymus
17	chr3:179042800-179046600	Weak transcription	HSMMtube	muscle
18	chr3:179042800-179047600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:179043000-179046600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:179043000-179046600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:179043000-179046600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:179043000-179046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:179043000-179046800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:179043000-179048000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:179043000-179048000	Weak transcription	Esophagus	oesophagus
26	chr3:179043000-179050000	Weak transcription	Aorta	Aorta
27	chr3:179043000-179050000	Weak transcription	Psoas Muscle	Psoas
28	chr3:179043000-179054800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:179043000-179054800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:179043000-179055600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:179043200-179046600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:179043200-179046600	Weak transcription	Lung	lung
33	chr3:179043200-179046600	Weak transcription	Ovary	ovary
34	chr3:179043200-179046600	Weak transcription	Pancreas	Pancrea
35	chr3:179043200-179046600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:179043200-179046600	Weak transcription	Spleen	Spleen
37	chr3:179043200-179046800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:179043200-179046800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:179043200-179048600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:179043200-179051400	Weak transcription	Fetal Heart	heart
41	chr3:179043200-179053200	Strong transcription	Placenta	Placenta
42	chr3:179043200-179054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:179043200-179056200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:179043200-179057000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:179043200-179057400	Strong transcription	Fetal Intestine Large	intestine
46	chr3:179043400-179046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:179043400-179047400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:179043400-179047800	Weak transcription	Brain Germinal Matrix	brain
49	chr3:179043400-179054200	Strong transcription	Osteobl	bone
50	chr3:179043400-179054600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links