Variant report

Variant	nsv10389
Chromosome Location	chr3:196202319-196206791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196202903..196205683-chr3:196207751..196209583,2	K562	blood:
2	chr3:196197868..196200797-chr3:196203999..196206906,2	K562	blood:
3	chr3:196200904..196203106-chr3:196242169..196245085,2	K562	blood:
4	chr3:196204324..196206909-chr3:196213007..196215218,2	K562	blood:

Variant related genes	Relation type
ENSG00000214097	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13090871	chr3:196202326-196202327	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112627482	chr3:196202337-196202338	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368739665	chr3:196202346-196202347	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145112063	chr3:196202360-196202361	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146862652	chr3:196202370-196202371	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112998168	chr3:196202396-196202397	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188260186	chr3:196202397-196202398	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373631040	chr3:196202416-196202417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367767012	chr3:196202423-196202424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10646227	chr3:196202424-196202425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576939626	chr3:196202507-196202508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112408725	chr3:196202508-196202509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192962554	chr3:196202514-196202515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536571240	chr3:196202515-196202516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554433160	chr3:196202523-196202524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573003648	chr3:196202559-196202560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376359374	chr3:196202578-196202579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558281141	chr3:196202579-196202580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143726630	chr3:196202610-196202611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543842232	chr3:196202613-196202614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182989903	chr3:196202620-196202621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187408102	chr3:196202622-196202623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192588462	chr3:196202656-196202657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368145043	chr3:196202657-196202658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560432046	chr3:196202663-196202664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527935470	chr3:196202664-196202665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552694942	chr3:196202683-196202684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184735060	chr3:196202701-196202702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573792396	chr3:196202706-196202707	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148080645	chr3:196202716-196202717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11436878	chr3:196202725-196202726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs386398996	chr3:196202728-196202729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549880692	chr3:196202730-196202731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373614317	chr3:196202734-196202735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376368673	chr3:196202735-196202736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371570807	chr3:196202736-196202737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140947002	chr3:196202739-196202740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536116593	chr3:196202791-196202792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150366933	chr3:196202792-196202793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189215190	chr3:196202807-196202808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192694100	chr3:196202816-196202817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4916431	chr3:196202822-196202823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs577855933	chr3:196202824-196202825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143580828	chr3:196202833-196202834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543915210	chr3:196202840-196202841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147191711	chr3:196202845-196202846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574375074	chr3:196202876-196202877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372987604	chr3:196202880-196202881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560881500	chr3:196202888-196202889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184958256	chr3:196202892-196202893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	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
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196182200-196213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:196191800-196216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:196193400-196209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:196193600-196214600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:196194200-196215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:196194200-196217400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:196194400-196211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:196194400-196216600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:196194600-196214600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:196194600-196214800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:196194600-196215800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:196194800-196215000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:196195000-196214800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:196195200-196202400	Strong transcription	Hela-S3	cervix
15	chr3:196195200-196215200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:196195400-196214800	Strong transcription	Liver	Liver
17	chr3:196195400-196215600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:196195600-196202400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:196195600-196214400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:196195600-196215000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:196195800-196214800	Strong transcription	Dnd41	blood
22	chr3:196196000-196205400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:196196600-196202400	Strong transcription	K562	blood
24	chr3:196196800-196207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:196196800-196208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:196196800-196214600	Strong transcription	Fetal Stomach	stomach
27	chr3:196196800-196214800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:196196800-196217000	Strong transcription	Fetal Intestine Small	intestine
29	chr3:196197000-196216800	Strong transcription	GM12878-XiMat	blood
30	chr3:196197000-196220000	Weak transcription	Stomach Mucosa	stomach
31	chr3:196197200-196214800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr3:196197200-196223800	Strong transcription	Fetal Thymus	thymus
33	chr3:196197400-196202400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:196197400-196202400	Strong transcription	Primary T cells from cord blood	blood
35	chr3:196197400-196202400	Strong transcription	Brain Substantia Nigra	brain
36	chr3:196197400-196202600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:196197400-196202600	Strong transcription	Adipose Nuclei	Adipose
38	chr3:196197400-196214600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:196197400-196214600	Strong transcription	Thymus	Thymus
40	chr3:196197600-196202400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:196197600-196202400	Strong transcription	Fetal Muscle Leg	muscle
42	chr3:196197600-196203800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:196197600-196214800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:196197600-196215000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:196198000-196202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:196198000-196202400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:196198000-196202400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:196198200-196202400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr3:196198200-196202400	Strong transcription	Fetal Lung	lung
50	chr3:196198200-196202400	Strong transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links