Variant report

Variant	esv3344040
Chromosome Location	chr19:27758053-28047852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:
2	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
3	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
4	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:

Extended variants
information (count: 24951 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:24951 , 50 per page) page: 1 2 3 4 5 6 7 ... 500

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114627662	chr19:27758065-27758066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs75181825	chr19:27758080-27758081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78530239	chr19:27758082-27758083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550196730	chr19:27758108-27758109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77033361	chr19:27758114-27758115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540732372	chr19:27758121-27758122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536370227	chr19:27758126-27758127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560350003	chr19:27758130-27758131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554336673	chr19:27758137-27758138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113410914	chr19:27758160-27758161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566671691	chr19:27758165-27758166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs199970320	chr19:27758181-27758182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201000692	chr19:27758186-27758187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370217228	chr19:27758215-27758216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533924568	chr19:27758216-27758217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529093713	chr19:27758222-27758223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558779455	chr19:27758224-27758225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117253099	chr19:27758226-27758227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138023630	chr19:27758229-27758230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557351881	chr19:27758230-27758231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575521376	chr19:27758235-27758236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113873174	chr19:27758238-27758239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs191818311	chr19:27758260-27758261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572998945	chr19:27758292-27758293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111628050	chr19:27758322-27758323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376662924	chr19:27758338-27758339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113101685	chr19:27758366-27758367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201288354	chr19:27758374-27758375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565123879	chr19:27758379-27758380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532696235	chr19:27758396-27758397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550967109	chr19:27758409-27758410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200481652	chr19:27758425-27758426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111545820	chr19:27758434-27758435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150859952	chr19:27758446-27758447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202078623	chr19:27758488-27758489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527341007	chr19:27758492-27758493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146124625	chr19:27758512-27758513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200271224	chr19:27758515-27758516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201025109	chr19:27758562-27758563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183543164	chr19:27758572-27758573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201562364	chr19:27758575-27758576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566490860	chr19:27758580-27758581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149863123	chr19:27758581-27758582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201874149	chr19:27758598-27758599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552434326	chr19:27758631-27758632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570637614	chr19:27758648-27758649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113742183	chr19:27758675-27758676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567068009	chr19:27758683-27758684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200332046	chr19:27758699-27758700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538159911	chr19:27758717-27758718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:27756800-27758200	ZNF genes & repeats	Dnd41	blood
6	chr19:27758000-27758200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:27758000-27758200	ZNF genes & repeats	NH-A	brain
8	chr19:27758200-27760400	Weak transcription	NH-A	brain
9	chr19:27759600-27760800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr19:27760200-27760800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr19:27760200-27761000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr19:27760400-27760800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:27760400-27760800	ZNF genes & repeats	HUVEC	blood vessel
14	chr19:27760400-27760800	ZNF genes & repeats	NH-A	brain
15	chr19:27760600-27760800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr19:27760600-27760800	ZNF genes & repeats	HepG2	liver
17	chr19:27760800-27762800	Weak transcription	GM12878-XiMat	blood
18	chr19:27760800-27764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:27760800-27764400	Weak transcription	NH-A	brain
20	chr19:27761000-27762400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:27762400-27762600	ZNF genes & repeats	HepG2	liver
22	chr19:27762400-27763400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr19:27762400-27763400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:27762400-27771200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr19:27762800-27763200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:27762800-27763200	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr19:27762800-27763200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr19:27762800-27763200	ZNF genes & repeats	Fetal Brain Male	brain
29	chr19:27762800-27763200	ZNF genes & repeats	GM12878-XiMat	blood
30	chr19:27762800-27763400	ZNF genes & repeats	Liver	Liver
31	chr19:27763000-27763200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:27763000-27763200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
33	chr19:27763000-27763200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr19:27763000-27763200	ZNF genes & repeats	HUVEC	blood vessel
35	chr19:27763000-27763400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr19:27763200-27763400	Enhancers	NHLF	lung
37	chr19:27763200-27764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:27763200-27764400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:27763200-27764400	Weak transcription	Adipose Nuclei	Adipose
40	chr19:27763200-27764400	Weak transcription	Brain Anterior Caudate	brain
41	chr19:27763200-27764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:27763200-27764400	Weak transcription	Fetal Brain Male	brain
43	chr19:27763200-27764400	Weak transcription	GM12878-XiMat	blood
44	chr19:27763200-27764400	Weak transcription	HUVEC	blood vessel
45	chr19:27763400-27764400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:27763400-27764400	Weak transcription	Liver	Liver
47	chr19:27763400-27764400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr19:27763400-27764400	Weak transcription	NHLF	lung
49	chr19:27764000-27764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:27764200-27767800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links