Variant report

Variant	nsv1026436
Chromosome Location	chr5:106168603-106199802
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:106186315..106188102-chr5:107007477..107009162,2	MCF-7	breast:
2	chr17:56709318..56712109-chr5:106181952..106184880,2	MCF-7	breast:
3	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
4	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFNA5-7	chr5:106178797-106179146	l_2991_chr5:106178796-106374642_testes
2	lnc-EFNA5-2	chr5:106179762-106179915	XLOC_004951
3	lnc-EFNA5-7	chr5:106181999-106182077	l_2991_chr5:106178796-106374642_testes

No data

Variant related genes	Relation type
BCL2L11	miRNA target sites

Extended variants
information (count: 643 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533911916	chr5:106168635-106168636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77203111	chr5:106168651-106168652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs296224	chr5:106168792-106168793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74540675	chr5:106168853-106168854	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556381102	chr5:106168892-106168893	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576316330	chr5:106168940-106168941	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547355908	chr5:106168956-106168957	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369772895	chr5:106168972-106168973	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541758523	chr5:106169015-106169016	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112448621	chr5:106169039-106169040	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561377369	chr5:106169053-106169054	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10491496	chr5:106169063-106169064	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189795535	chr5:106169068-106169069	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144868685	chr5:106169095-106169096	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs58797681	chr5:106169099-106169100	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560237137	chr5:106169139-106169140	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs181438304	chr5:106169167-106169168	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552388218	chr5:106169172-106169173	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569328771	chr5:106169188-106169189	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs199764557	chr5:106169286-106169287	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs115567993	chr5:106169318-106169319	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146031133	chr5:106169320-106169321	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73202353	chr5:106169330-106169331	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533770232	chr5:106169333-106169334	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553772844	chr5:106169372-106169373	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114702050	chr5:106169388-106169389	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539520862	chr5:106169461-106169462	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556372187	chr5:106169476-106169477	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113686005	chr5:106169498-106169499	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535945238	chr5:106169499-106169500	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373939399	chr5:106169512-106169513	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186964631	chr5:106169518-106169519	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568435521	chr5:106169534-106169535	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs191409881	chr5:106169536-106169537	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181638966	chr5:106169617-106169618	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186336311	chr5:106169630-106169631	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs376065496	chr5:106169635-106169636	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191145315	chr5:106169641-106169642	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371290114	chr5:106169652-106169653	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532497505	chr5:106169727-106169728	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116596016	chr5:106169747-106169748	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563292683	chr5:106169774-106169775	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182238508	chr5:106169832-106169833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548712926	chr5:106169856-106169857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77883659	chr5:106169865-106169866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34196333	chr5:106169872-106169873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139896584	chr5:106169873-106169874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547445722	chr5:106169878-106169879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570460916	chr5:106169888-106169889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185468563	chr5:106169929-106169930	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106167800-106168800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:106168800-106169000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:106168800-106169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:106169000-106169400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:106169000-106169600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:106169200-106169600	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:106169200-106169800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:106169600-106169800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:106169800-106170000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:106179600-106180200	Enhancers	Stomach Mucosa	stomach
11	chr5:106179800-106180000	Enhancers	Aorta	Aorta
12	chr5:106179800-106180000	Enhancers	Hela-S3	cervix
13	chr5:106179800-106180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:106184200-106184800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:106184800-106185000	Enhancers	A549	lung
16	chr5:106184800-106185800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:106185000-106185400	Enhancers	Stomach Mucosa	stomach
18	chr5:106185000-106185600	Flanking Active TSS	A549	lung
19	chr5:106185000-106188200	Enhancers	Fetal Intestine Large	intestine
20	chr5:106185200-106185400	Enhancers	Liver	Liver
21	chr5:106185200-106185400	Enhancers	Fetal Lung	lung
22	chr5:106185600-106187200	Weak transcription	A549	lung
23	chr5:106187200-106187800	Enhancers	Fetal Lung	lung
24	chr5:106187200-106188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:106187200-106188200	Enhancers	A549	lung
26	chr5:106187400-106187800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:106189600-106194200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:106190000-106190200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:106190200-106190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:106190600-106191200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr5:106191200-106198600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:106194000-106194800	Enhancers	Brain Germinal Matrix	brain
33	chr5:106194200-106194400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:106194200-106194800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:106194400-106194800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:106195000-106198600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:106196000-106199600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:106196200-106196800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:106196200-106199400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:106196400-106196600	Enhancers	GM12878-XiMat	blood
41	chr5:106196400-106199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:106196600-106197600	Weak transcription	GM12878-XiMat	blood
43	chr5:106197400-106197600	Enhancers	Gastric	stomach
44	chr5:106197400-106197600	Enhancers	Psoas Muscle	Psoas
45	chr5:106197600-106198600	Weak transcription	Gastric	stomach
46	chr5:106197600-106198600	Weak transcription	Psoas Muscle	Psoas
47	chr5:106197600-106198800	Enhancers	GM12878-XiMat	blood
48	chr5:106197600-106199000	Enhancers	Fetal Intestine Large	intestine
49	chr5:106197600-106199000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:106197600-106199200	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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