Variant report

Variant	esv3362324
Chromosome Location	chr5:176929796-176932294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:176759238..176761473-chr5:176928139..176930069,2	MCF-7	breast:
2	chr5:176928327..176929846-chr5:177027652..177029155,2	K562	blood:
3	chr5:176731427..176733282-chr5:176928163..176931124,2	MCF-7	breast:
4	chr5:176928239..176929895-chr5:177020806..177023092,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR7-2	chr5:176930359-176930648	ENSG00000248996.1

Variant related genes	Relation type
ENSG00000169230	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs34372521	chr5:176929800-176929801	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569439736	chr5:176929828-176929829	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116875846	chr5:176929832-176929833	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554969950	chr5:176929871-176929872	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145135243	chr5:176929962-176929963	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2544814	chr5:176929974-176929975	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs558658713	chr5:176929982-176929983	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373878663	chr5:176930026-176930027	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186534748	chr5:176930029-176930030	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs137913832	chr5:176930032-176930033	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190282425	chr5:176930043-176930044	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201706502	chr5:176930086-176930087	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574549275	chr5:176930099-176930100	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73349179	chr5:176930113-176930114	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560202226	chr5:176930116-176930117	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528437635	chr5:176930117-176930118	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546615019	chr5:176930118-176930119	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368510520	chr5:176930119-176930120	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202146130	chr5:176930131-176930132	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28376231	chr5:176930135-176930136	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201537959	chr5:176930140-176930141	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35877565	chr5:176930150-176930151	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547730915	chr5:176930155-176930156	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536458394	chr5:176930164-176930165	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138153794	chr5:176930172-176930173	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376911686	chr5:176930173-176930174	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79945738	chr5:176930174-176930175	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370427653	chr5:176930176-176930177	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548832354	chr5:176930182-176930183	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140904765	chr5:176930206-176930207	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533749530	chr5:176930214-176930215	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558621957	chr5:176930223-176930224	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372845866	chr5:176930226-176930227	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577005195	chr5:176930233-176930234	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540030583	chr5:176930278-176930279	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376960062	chr5:176930279-176930280	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116263149	chr5:176930280-176930281	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374020522	chr5:176930284-176930285	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377662092	chr5:176930299-176930300	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555994419	chr5:176930332-176930333	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371005350	chr5:176930333-176930334	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574540640	chr5:176930339-176930340	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571183873	chr5:176930358-176930359	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144583303	chr5:176930366-176930367	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs550446401	chr5:176930373-176930374	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs369797339	chr5:176930385-176930386	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs564983103	chr5:176930396-176930397	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs532376435	chr5:176930404-176930405	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs371261482	chr5:176930418-176930419	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs182147178	chr5:176930436-176930437	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176925400-176930000	Weak transcription	Gastric	stomach
2	chr5:176925400-176930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:176925400-176937200	Weak transcription	Aorta	Aorta
4	chr5:176925400-176937200	Weak transcription	Dnd41	blood
5	chr5:176925600-176930800	Weak transcription	Lung	lung
6	chr5:176925600-176930800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:176925600-176934400	Weak transcription	Pancreas	Pancrea
8	chr5:176925600-176942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:176925800-176929800	Weak transcription	NHEK	skin
10	chr5:176925800-176930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:176925800-176935200	Weak transcription	Colonic Mucosa	Colon
12	chr5:176925800-176936400	Weak transcription	Psoas Muscle	Psoas
13	chr5:176925800-176937000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:176926000-176937600	Weak transcription	Ovary	ovary
15	chr5:176927000-176942000	Weak transcription	Fetal Kidney	kidney
16	chr5:176927400-176931000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:176927600-176929800	Enhancers	Brain Anterior Caudate	brain
18	chr5:176927600-176930400	Enhancers	Primary B cells from cord blood	blood
19	chr5:176927600-176931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:176927800-176930000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:176927800-176930000	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:176927800-176930600	Enhancers	HMEC	breast
23	chr5:176927800-176934800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:176928000-176929800	Weak transcription	HSMMtube	muscle
25	chr5:176928000-176930000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:176928000-176930000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:176928000-176930400	Weak transcription	Fetal Brain Female	brain
28	chr5:176928000-176936000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:176928000-176937000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:176928000-176937400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:176928000-176937400	Weak transcription	Osteobl	bone
32	chr5:176928000-176937600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:176928000-176937600	Weak transcription	Primary T cells from cord blood	blood
34	chr5:176928000-176938200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:176928200-176930800	Weak transcription	Liver	Liver
36	chr5:176928200-176931000	Weak transcription	Thymus	Thymus
37	chr5:176928200-176931200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:176928200-176931600	Weak transcription	Adipose Nuclei	Adipose
39	chr5:176928200-176936400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:176928200-176937400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:176928200-176937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:176928200-176937600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:176928400-176929800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:176928400-176930800	Weak transcription	Placenta	Placenta
45	chr5:176928400-176931600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:176928400-176931600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:176928400-176934200	Weak transcription	K562	blood
48	chr5:176928400-176934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:176928400-176935400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:176928400-176935800	Weak transcription	Muscle Satellite Cultured Cells	--

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