Variant report

Variant	nsv592968
Chromosome Location	chr3:194775336-194787534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:
2	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
3	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
4	chr3:194559695..194562228-chr3:194782083..194784919,2	MCF-7	breast:
5	chr3:194782723..194784789-chr3:194796384..194799142,2	MCF-7	breast:
6	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
7	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
8	chr3:194775531..194777802-chr3:194805228..194808125,2	K562	blood:
9	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
10	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
11	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
12	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
13	chr3:194779827..194782104-chr3:194805919..194808350,2	MCF-7	breast:
14	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
15	chr3:194784040..194786855-chr3:194798676..194802052,3	MCF-7	breast:
16	chr3:194774148..194775678-chr3:194782165..194785109,2	MCF-7	breast:
17	chr3:194763578..194765560-chr3:194785379..194787030,2	MCF-7	breast:
18	chr3:194772498..194774182-chr3:194778743..194781553,2	K562	blood:
19	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
20	chr3:194764183..194766822-chr3:194774722..194776623,2	MCF-7	breast:
21	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
22	chr3:194778538..194781449-chr3:194803354..194805108,2	K562	blood:
23	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173950	chromatin interactions

Extended variants
information (count: 707 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2720932	chr3:194775336-194775337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4677802	chr3:194775360-194775361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552333858	chr3:194775361-194775362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570440263	chr3:194775378-194775379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537487855	chr3:194775481-194775482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556412792	chr3:194775489-194775490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73890696	chr3:194775539-194775540	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9817363	chr3:194775590-194775591	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553654405	chr3:194775592-194775593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187879290	chr3:194775620-194775621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138051314	chr3:194775636-194775637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112365524	chr3:194775637-194775638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140876990	chr3:194775658-194775659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76065345	chr3:194775680-194775681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs397822189	chr3:194775681-194775682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190627327	chr3:194775715-194775716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558259490	chr3:194775721-194775722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150100866	chr3:194775726-194775727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs55775777	chr3:194775766-194775767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138370557	chr3:194775775-194775776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529533861	chr3:194775801-194775802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182176985	chr3:194775804-194775805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559971066	chr3:194775820-194775821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13099618	chr3:194775822-194775823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187181233	chr3:194775858-194775859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570599283	chr3:194775938-194775939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34612418	chr3:194775960-194775961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149281181	chr3:194775966-194775967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145314635	chr3:194776054-194776055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79397368	chr3:194776109-194776110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553681672	chr3:194776147-194776148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2642395	chr3:194776158-194776159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115197145	chr3:194776173-194776174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191584911	chr3:194776193-194776194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76125130	chr3:194776196-194776197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184458534	chr3:194776217-194776218	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138434661	chr3:194776221-194776222	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs60264665	chr3:194776223-194776224	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs375379012	chr3:194776240-194776241	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9818525	chr3:194776251-194776252	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376734972	chr3:194776252-194776253	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142058412	chr3:194776254-194776255	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2642397	chr3:194776255-194776256	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76972724	chr3:194776259-194776260	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111805520	chr3:194776260-194776261	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs386670000	chr3:194776266-194776267	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59573371	chr3:194776268-194776269	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373524999	chr3:194776270-194776271	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62292091	chr3:194776274-194776275	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs367701329	chr3:194776275-194776276	Weak transcription Enhancers ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194765600-194776200	Weak transcription	Spleen	Spleen
2	chr3:194766800-194776200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:194774200-194775600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:194774200-194787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:194775200-194775400	Enhancers	Lung	lung
6	chr3:194775400-194779200	Weak transcription	Lung	lung
7	chr3:194775600-194776200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:194776000-194776400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:194776200-194776600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:194776200-194776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:194776200-194776600	Enhancers	Spleen	Spleen
12	chr3:194776200-194787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:194776400-194783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:194776600-194776800	Weak transcription	Spleen	Spleen
15	chr3:194776600-194779200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:194776600-194779200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:194776800-194777000	Enhancers	Spleen	Spleen
18	chr3:194776800-194777200	Bivalent Enhancer	HepG2	liver
19	chr3:194776800-194778400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:194777000-194779400	Weak transcription	Spleen	Spleen
21	chr3:194778200-194778400	Enhancers	Fetal Heart	heart
22	chr3:194778200-194778600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr3:194778400-194779200	Weak transcription	Fetal Heart	heart
24	chr3:194778400-194782600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr3:194778600-194780200	Enhancers	Esophagus	oesophagus
26	chr3:194778800-194780600	Enhancers	Fetal Muscle Leg	muscle
27	chr3:194779000-194780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:194779000-194780600	Enhancers	HUVEC	blood vessel
29	chr3:194779000-194781400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:194779200-194779400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:194779200-194779600	Enhancers	Fetal Heart	heart
33	chr3:194779200-194779600	Enhancers	Lung	lung
34	chr3:194779200-194780000	Enhancers	Adipose Nuclei	Adipose
35	chr3:194779200-194780000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:194779200-194780000	Bivalent/Poised TSS	HepG2	liver
37	chr3:194779200-194780200	Enhancers	Left Ventricle	heart
38	chr3:194779200-194780200	Enhancers	Right Atrium	heart
39	chr3:194779200-194780200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr3:194779200-194780400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:194779200-194780600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:194779200-194780600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr3:194779200-194781600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr3:194779400-194780200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:194779400-194780200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr3:194779400-194780200	Enhancers	Right Ventricle	heart
47	chr3:194779400-194780400	Enhancers	Primary hematopoietic stem cells	blood
48	chr3:194779400-194780600	Enhancers	Fetal Thymus	thymus
49	chr3:194779400-194781200	Enhancers	Fetal Intestine Small	intestine
50	chr3:194779400-194781400	Enhancers	Spleen	Spleen

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