Variant report

Variant	esv3362719
Chromosome Location	chr3:136648144-136648663
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	GATA3	chr3:136648462-136648546	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136583020..136585823-chr3:136647471..136649175,2	MCF-7	breast:

Variant related genes	Relation type
NCK1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554137901	chr3:136648266-136648267	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573956158	chr3:136648277-136648278	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542252192	chr3:136648326-136648327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112400015	chr3:136648338-136648339	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567164042	chr3:136648378-136648379	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138201494	chr3:136648406-136648407	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34192022	chr3:136648408-136648409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562066789	chr3:136648516-136648517	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543864439	chr3:136648518-136648519	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182459225	chr3:136648525-136648526	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370918683	chr3:136648564-136648565	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386666200	chr3:136648607-136648608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143732943	chr3:136648629-136648630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1965107	chr3:136648643-136648644	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566837814	chr3:136648656-136648657	Weak transcription Strong transcription 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
Cancer	21129771	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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Intracranial aneurysm	16715129	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136613200-136648800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:136619200-136656800	Weak transcription	NHLF	lung
3	chr3:136624200-136664400	Weak transcription	Aorta	Aorta
4	chr3:136626000-136661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:136626400-136648800	Weak transcription	HMEC	breast
6	chr3:136626400-136649200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:136626600-136650600	Weak transcription	Esophagus	oesophagus
8	chr3:136626600-136661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:136628800-136650600	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:136632600-136657000	Weak transcription	HepG2	liver
11	chr3:136633800-136660200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:136634000-136648200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:136634800-136650200	Weak transcription	HSMM	muscle
14	chr3:136634800-136656800	Weak transcription	NH-A	brain
15	chr3:136635000-136656600	Weak transcription	K562	blood
16	chr3:136636600-136648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:136636800-136649400	Weak transcription	Right Ventricle	heart
18	chr3:136637600-136652000	Weak transcription	Brain Substantia Nigra	brain
19	chr3:136637600-136661400	Weak transcription	Left Ventricle	heart
20	chr3:136638000-136648400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:136638800-136648800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:136638800-136648800	Weak transcription	NHEK	skin
23	chr3:136638800-136664400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:136639000-136664400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:136640400-136655000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:136640800-136650600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:136641000-136652000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:136641000-136652600	Weak transcription	Fetal Stomach	stomach
29	chr3:136641000-136670000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:136641800-136649200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:136641800-136656200	Weak transcription	HUVEC	blood vessel
32	chr3:136643800-136651800	Weak transcription	HSMMtube	muscle
33	chr3:136643800-136655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:136643800-136661400	Weak transcription	Small Intestine	intestine
35	chr3:136644000-136648800	Weak transcription	Brain Anterior Caudate	brain
36	chr3:136644600-136656800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:136644800-136648400	Weak transcription	Adipose Nuclei	Adipose
38	chr3:136644800-136648800	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:136644800-136648800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:136644800-136652000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:136645000-136648600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:136645000-136648600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:136645000-136650000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:136645000-136652000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:136645000-136655400	Weak transcription	Fetal Brain Female	brain
46	chr3:136645400-136664200	Weak transcription	Placenta	Placenta
47	chr3:136645800-136664600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:136646000-136651400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:136646200-136660000	Weak transcription	Lung	lung
50	chr3:136646200-136664400	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links