Variant report

Variant	esv3426654
Chromosome Location	chr19:19797452-19800800
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	chr19:19772412..19775307-chr19:19800186..19802110,2	K562	blood:

Variant related genes	Relation type
ENSG00000105726	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73006709	chr19:19797496-19797497	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189848152	chr19:19797538-19797539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549599171	chr19:19797553-19797554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543110479	chr19:19797578-19797579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531467525	chr19:19797615-19797616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147649407	chr19:19797622-19797623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571339605	chr19:19797645-19797646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540795115	chr19:19797761-19797762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375145456	chr19:19797765-19797766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547378711	chr19:19797793-19797794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567607901	chr19:19797804-19797805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560935899	chr19:19797805-19797806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536547517	chr19:19797808-19797809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556353538	chr19:19797852-19797853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529953133	chr19:19797858-19797859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576142710	chr19:19797859-19797860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538798238	chr19:19797911-19797912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557972151	chr19:19797934-19797935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80075174	chr19:19797968-19797969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543398970	chr19:19798013-19798014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76743175	chr19:19798029-19798030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75731198	chr19:19798069-19798070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574019906	chr19:19798080-19798081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111405814	chr19:19798112-19798113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182757716	chr19:19798167-19798168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150143855	chr19:19798189-19798190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28472726	chr19:19798203-19798204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531772708	chr19:19798218-19798219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145497031	chr19:19798221-19798222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202069281	chr19:19798225-19798226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367733448	chr19:19798226-19798227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28493908	chr19:19798227-19798228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188223020	chr19:19798229-19798230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143423682	chr19:19798234-19798235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547463856	chr19:19798246-19798247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567249293	chr19:19798282-19798283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554830519	chr19:19798301-19798302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191317478	chr19:19798333-19798334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549827892	chr19:19798335-19798336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183573847	chr19:19798356-19798357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538464686	chr19:19798363-19798364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558320241	chr19:19798367-19798368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187435630	chr19:19798379-19798380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370389810	chr19:19798440-19798441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192339784	chr19:19798445-19798446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565526432	chr19:19798544-19798545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561593086	chr19:19798589-19798590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560277042	chr19:19798608-19798609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374105670	chr19:19798613-19798614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532184760	chr19:19798618-19798619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19782000-19798200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:19791000-19798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:19791000-19799200	Weak transcription	Fetal Kidney	kidney
4	chr19:19791000-19802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
6	chr19:19791600-19810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:19792400-19798000	Weak transcription	Left Ventricle	heart
8	chr19:19792400-19810000	Weak transcription	Ovary	ovary
9	chr19:19792600-19798000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:19793800-19799000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:19795000-19798000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:19795400-19811200	Weak transcription	Dnd41	blood
13	chr19:19797000-19797600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr19:19797200-19797800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:19797200-19798000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr19:19797400-19797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:19797400-19798200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
18	chr19:19797600-19798200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr19:19797800-19798200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:19797800-19800200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:19798000-19798200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr19:19798000-19798200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:19798000-19798200	ZNF genes & repeats	Left Ventricle	heart
24	chr19:19798000-19800600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:19798200-19798400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:19798200-19798400	Weak transcription	Left Ventricle	heart
27	chr19:19798200-19800200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:19798200-19800200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:19798200-19800400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:19798600-19798800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:19799000-19800800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:19800200-19800400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:19800200-19800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:19800200-19800400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:19800200-19801000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:19800400-19800800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr19:19800400-19801000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr19:19800400-19801000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:19800400-19801200	ZNF genes & repeats	Thymus	Thymus
40	chr19:19800600-19801000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr19:19800600-19801000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links