Variant report

Variant	nsv911237
Chromosome Location	chr19:18169449-18193060
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18117457..18120181-chr19:18166897..18171800,6	K562	blood:
2	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
3	chr19:18188813..18191087-chr19:18191610..18194402,3	K562	blood:
4	chr19:18185895..18188337-chr19:18214059..18216560,2	K562	blood:
5	chr19:18184421..18186715-chr19:18208443..18210278,2	K562	blood:
6	chr19:18183643..18186690-chr19:18187876..18191058,3	K562	blood:
7	chr19:18192701..18194522-chr19:18196321..18198355,2	MCF-7	breast:
8	chr19:18188813..18191087-chr19:18191610..18194402,3	K562	blood:
9	chr19:18171367..18174454-chr19:18284388..18286082,3	K562	blood:
10	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
11	chr19:18118499..18119082-chr19:18168902..18169511,2	K562	blood:
12	chr19:18174801..18178222-chr19:18262412..18264976,3	K562	blood:
13	chr19:18116206..18122665-chr19:18167802..18171424,9	MCF-7	breast:
14	chr19:18052586..18055033-chr19:18189740..18191499,2	K562	blood:
15	chr19:18117408..18118699-chr19:18168880..18170084,19	MCF-7	breast:
16	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
17	chr19:18116678..18118349-chr19:18169310..18171624,2	MCF-7	breast:
18	chr19:18164213..18165777-chr19:18168109..18169737,2	K562	blood:
19	chr19:18117507..18118415-chr19:18168554..18169803,7	MCF-7	breast:
20	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
21	chr19:18174502..18178222-chr19:18262412..18264976,3	K562	blood:
22	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
23	chr19:18191423..18194155-chr19:18199643..18202005,3	K562	blood:
24	chr19:18117843..18118390-chr19:18184493..18185248,2	MCF-7	breast:
25	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
26	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
27	chr19:18112057..18114100-chr19:18169438..18171511,2	MCF-7	breast:
28	chr19:18172332..18174295-chr19:18269343..18271118,2	K562	blood:
29	chr19:18173990..18174805-chr19:18278703..18279468,3	K562	blood:
30	chr19:18116444..18119992-chr19:18166897..18169714,4	K562	blood:
31	chr19:18129262..18132278-chr19:18167782..18169896,3	K562	blood:
32	chr19:18175810..18177346-chr19:18219359..18221194,2	MCF-7	breast:
33	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
34	chr19:18167851..18170563-chr19:18548504..18551321,2	K562	blood:
35	chr19:17980924..17981724-chr19:18168905..18169800,4	K562	blood:
36	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
37	chr19:18117524..18118497-chr19:18170482..18171294,2	K562	blood:
38	chr19:18123288..18126278-chr19:18168683..18170920,3	K562	blood:
39	chr19:18117511..18118459-chr19:18170615..18171118,2	MCF-7	breast:
40	chr19:18190056..18192920-chr19:18208417..18210205,2	K562	blood:
41	chr19:18110500..18112488-chr19:18174652..18177496,3	MCF-7	breast:
42	chr19:18117512..18118471-chr19:18168887..18169895,16	K562	blood:
43	chr19:18183643..18186690-chr19:18187876..18191058,3	K562	blood:
44	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
45	chr19:18185308..18187156-chr19:18263394..18266366,3	MCF-7	breast:
46	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268173	chromatin interactions
ENSG00000269145	chromatin interactions
ENSG00000096996	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000216490	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000099308	chromatin interactions

Extended variants
information (count: 1206 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1206 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17885963	chr19:18169449-18169450	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs60209067	chr19:18169450-18169451	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534637248	chr19:18169451-18169452	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574365805	chr19:18169488-18169489	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543220140	chr19:18169534-18169535	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557068304	chr19:18169546-18169547	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576910290	chr19:18169557-18169558	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545871764	chr19:18169617-18169618	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10421168	chr19:18169655-18169656	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368583251	chr19:18169662-18169663	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs55672041	chr19:18169692-18169693	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541817407	chr19:18169714-18169715	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17878364	chr19:18169781-18169782	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138204127	chr19:18169783-18169784	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531189197	chr19:18169786-18169787	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376275634	chr19:18169891-18169892	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564700423	chr19:18169905-18169906	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112520324	chr19:18169952-18169953	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547058096	chr19:18169961-18169962	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367823605	chr19:18169968-18169969	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs17878543	chr19:18169980-18169981	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs404733	chr19:18169997-18169998	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185666203	chr19:18170074-18170075	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs730663	chr19:18170077-18170078	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112296239	chr19:18170083-18170084	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537347064	chr19:18170092-18170093	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556915010	chr19:18170172-18170173	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs897750	chr19:18170175-18170176	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs117290375	chr19:18170177-18170178	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539185354	chr19:18170204-18170205	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117612494	chr19:18170232-18170233	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572939992	chr19:18170257-18170258	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3833286	chr19:18170265-18170266	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397756372	chr19:18170270-18170271	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs146989235	chr19:18170292-18170293	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2085456	chr19:18170300-18170301	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs2085457	chr19:18170302-18170303	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561622044	chr19:18170363-18170364	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549618330	chr19:18170376-18170377	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373982278	chr19:18170382-18170383	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs3746190	chr19:18170384-18170385	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544880898	chr19:18170385-18170386	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188415514	chr19:18170388-18170389	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373710358	chr19:18170401-18170402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368721970	chr19:18170416-18170417	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372358188	chr19:18170418-18170419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs377287376	chr19:18170436-18170437	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368249706	chr19:18170457-18170458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372536968	chr19:18170459-18170460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138079162	chr19:18170461-18170462	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18163000-18169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:18168400-18169600	Enhancers	Esophagus	oesophagus
3	chr19:18168400-18169600	Enhancers	Gastric	stomach
4	chr19:18168400-18169600	Enhancers	Spleen	Spleen
5	chr19:18168400-18169800	Enhancers	Liver	Liver
6	chr19:18168400-18169800	Enhancers	Placenta	Placenta
7	chr19:18168400-18169800	Enhancers	GM12878-XiMat	blood
8	chr19:18168600-18169600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr19:18168600-18169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr19:18168600-18169600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:18168600-18169800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:18168600-18169800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18168600-18169800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:18168600-18169800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr19:18168600-18169800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr19:18168600-18169800	Enhancers	NHDF-Ad	bronchial
17	chr19:18168600-18170200	Enhancers	Primary B cells from cord blood	blood
18	chr19:18168800-18169600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr19:18168800-18169600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr19:18168800-18169600	Flanking Active TSS	HepG2	liver
21	chr19:18168800-18169800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:18168800-18169800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:18168800-18169800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:18168800-18169800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr19:18168800-18169800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:18168800-18169800	Enhancers	Fetal Lung	lung
27	chr19:18169000-18169600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr19:18169000-18169600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:18169000-18169600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:18169000-18169600	Enhancers	Primary T cells from cord blood	blood
31	chr19:18169000-18169600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:18169000-18169600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr19:18169000-18169600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:18169000-18169600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:18169000-18169600	Enhancers	Fetal Brain Male	brain
36	chr19:18169000-18169600	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr19:18169000-18169600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr19:18169000-18169600	Enhancers	Lung	lung
39	chr19:18169000-18169600	Enhancers	Pancreas	Pancrea
40	chr19:18169000-18169600	Active TSS	Rectal Smooth Muscle	rectum
41	chr19:18169000-18169600	Enhancers	Stomach Mucosa	stomach
42	chr19:18169000-18169600	Flanking Active TSS	Thymus	Thymus
43	chr19:18169000-18169600	Flanking Active TSS	Dnd41	blood
44	chr19:18169000-18169600	Enhancers	HMEC	breast
45	chr19:18169000-18169800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:18169000-18169800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:18169000-18169800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:18169000-18169800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr19:18169000-18169800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:18169000-18169800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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