Variant report

Variant	esv3451653
Chromosome Location	chr3:136275366-136275656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136274473..136277671-chr3:136469304..136472148,3	K562	blood:
2	chr3:136275233..136277480-chr3:136465524..136468247,2	K562	blood:

Variant related genes	Relation type
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556726929	chr3:136275374-136275375	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181293043	chr3:136275386-136275387	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545587969	chr3:136275393-136275394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559449045	chr3:136275399-136275400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572971197	chr3:136275402-136275403	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375836305	chr3:136275412-136275413	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75720265	chr3:136275419-136275420	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199949013	chr3:136275423-136275424	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561629749	chr3:136275439-136275440	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530762566	chr3:136275465-136275466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7621308	chr3:136275528-136275529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs563543458	chr3:136275567-136275568	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35824564	chr3:136275576-136275577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552412510	chr3:136275581-136275582	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6774964	chr3:136275582-136275583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs80161310	chr3:136275592-136275593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548827747	chr3:136275598-136275599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562318501	chr3:136275600-136275601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568766277	chr3:136275601-136275602	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537780831	chr3:136275639-136275640	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556873041	chr3:136275649-136275650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136176400-136314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:136195400-136278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:136212200-136323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:136213000-136326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:136246600-136286200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:136247200-136319800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:136247200-136334800	Weak transcription	Aorta	Aorta
8	chr3:136248200-136349200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:136251400-136319000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:136251600-136284400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:136251600-136284400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:136251600-136289400	Weak transcription	Adipose Nuclei	Adipose
13	chr3:136251600-136322400	Weak transcription	Liver	Liver
14	chr3:136251800-136284800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:136252600-136284800	Weak transcription	Left Ventricle	heart
16	chr3:136252600-136320400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:136252800-136305600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:136252800-136314800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:136255200-136294000	Weak transcription	Primary T cells from cord blood	blood
20	chr3:136255800-136291600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:136257600-136282800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:136258200-136275400	Weak transcription	Fetal Intestine Large	intestine
23	chr3:136263000-136327200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:136263800-136277600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:136265000-136294200	Weak transcription	Fetal Lung	lung
26	chr3:136265200-136278600	Weak transcription	Brain Substantia Nigra	brain
27	chr3:136265400-136314800	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:136265800-136278400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:136266000-136275400	Weak transcription	Ovary	ovary
30	chr3:136266400-136315600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:136266600-136278200	Weak transcription	HMEC	breast
32	chr3:136266600-136284200	Weak transcription	Primary B cells from cord blood	blood
33	chr3:136266600-136284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:136266600-136284800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:136266600-136291600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:136266600-136314600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:136266600-136316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:136266800-136281600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:136266800-136284600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:136266800-136291000	Weak transcription	Hela-S3	cervix
41	chr3:136266800-136291800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:136266800-136314800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:136267000-136278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:136267000-136297800	Weak transcription	HUVEC	blood vessel
45	chr3:136267200-136284800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr3:136268000-136289400	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:136268200-136351200	Weak transcription	Esophagus	oesophagus
48	chr3:136268400-136284600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:136268600-136292400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:136268800-136285000	Weak transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links