Variant report

Variant	esv3365069
Chromosome Location	chr5:151304387-151304810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:489)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:151304270-151304436	K562	blood:	n/a	n/a
2	CBX3	chr5:151304140-151304444	K562	blood:	n/a	n/a
3	CBX3	chr5:151304094-151304477	K562	blood:	n/a	n/a
4	CREB1	chr5:151304060-151304447	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr5:151304118-151304598	K562	blood:	n/a	n/a
6	CREB1	chr5:151304080-151304503	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr5:151304059-151304452	GM12878	blood:	n/a	n/a
8	CTCF	chr5:151304240-151304390	SK-N-SH_RA	brain:	n/a	n/a
9	E2F4	chr5:151304243-151304443	MCF10A-Er-Src	breast:	n/a	chr5:151304297-151304307
10	EBF1	chr5:151304146-151304394	GM12878	blood:	n/a	chr5:151304253-151304262 chr5:151304253-151304263 chr5:151304251-151304264
11	EBF1	chr5:151304202-151304414	GM12878	blood:	n/a	chr5:151304253-151304262 chr5:151304253-151304263 chr5:151304251-151304264
12	EP300	chr5:151303935-151304678	ECC-1	luminal epithelium:	n/a	chr5:151304297-151304313
13	EP300	chr5:151304160-151304498	H1-hESC	embryonic stem cell:	n/a	chr5:151304297-151304313
14	ETS1	chr5:151304203-151304415	K562	blood:	n/a	n/a
15	FOXA1	chr5:151304248-151304446	T-47D	breast:	n/a	n/a
16	FOXP2	chr5:151304209-151304408	SK-N-MC	brain:	n/a	n/a
17	GABPA	chr5:151304174-151304412	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA3	chr5:151304162-151304488	T-47D	breast:	n/a	n/a
19	GTF2F1	chr5:151304206-151304468	H1-hESC	embryonic stem cell:	n/a	n/a
20	HCFC1	chr5:151304197-151304493	K562	blood:	n/a	n/a
21	HDAC2	chr5:151304119-151304557	MCF-7	breast:	n/a	chr5:151304316-151304335
22	HDAC2	chr5:151304209-151304456	H1-hESC	embryonic stem cell:	n/a	chr5:151304316-151304335
23	HDAC2	chr5:151304149-151304469	HepG2	liver:	n/a	chr5:151304316-151304335
24	HDAC2	chr5:151304078-151304549	H1-hESC	embryonic stem cell:	n/a	chr5:151304316-151304335
25	JUND	chr5:151304235-151304413	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr5:151304204-151304458	K562	blood:	n/a	chr5:151304221-151304230
27	MAX	chr5:151304175-151304457	K562	blood:	n/a	n/a
28	MAX	chr5:151304188-151304424	GM12878	blood:	n/a	n/a
29	MAX	chr5:151304232-151304416	K562	blood:	n/a	n/a
30	MAX	chr5:151304072-151304585	A549	lung:	n/a	n/a
31	MAX	chr5:151304196-151304487	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr5:151304178-151304461	K562	blood:	n/a	n/a
33	MAX	chr5:151304120-151304522	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr5:151304059-151304626	MCF-7	breast:	n/a	n/a
35	MAX	chr5:151304093-151304533	MCF-7	breast:	n/a	n/a
36	MAX	chr5:151304076-151304599	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr5:151304118-151304517	NB4	blood:	n/a	n/a
38	MAX	chr5:151304108-151304575	ECC-1	luminal epithelium:	n/a	n/a
39	MAZ	chr5:151304103-151304483	K562	blood:	n/a	n/a
40	MXI1	chr5:151304060-151304569	H1-hESC	embryonic stem cell:	n/a	n/a
41	MXI1	chr5:151304229-151304479	GM12878	blood:	n/a	n/a
42	MXI1	chr5:151304167-151304706	IMR90	lung:	n/a	n/a
43	MXI1	chr5:151304172-151304482	HepG2	liver:	n/a	n/a
44	MXI1	chr5:151304159-151304436	K562	blood:	n/a	n/a
45	MYC	chr5:151304255-151304399	MCF-7	breast:	n/a	n/a
46	MYC	chr5:151304245-151304396	MCF-7	breast:	n/a	n/a
47	POLR2A	chr5:151304352-151304401	K562	blood:	n/a	n/a
48	RAD21	chr5:151304157-151304404	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr5:151304090-151304549	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr5:151304074-151304571	ECC-1	luminal epithelium:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:151304542-151304592	AG04450	lung:	fetal
2	chr5:151304542-151304592	AG04450	lung:	fetal
3	chr5:151304547-151304597	K562	blood:	n/a
4	chr5:151304770-151304820	ProgFib	skin:	n/a
5	chr5:151304542-151304592	BJ	skin:	n/a
6	chr5:151304542-151304592	IMR90	lung:	fetal
7	chr5:151304770-151304820	HUVEC	blood vessel:	n/a
8	chr5:151304422-151304472	NB4	blood:	n/a
9	chr5:151304409-151304459	AG04449	skin:	fetal
10	chr5:151304547-151304597	LNCaP	prostate:	n/a
11	chr5:151304357-151304407	NH-A	brain:	n/a
12	chr5:151304488-151304538	NB4	blood:	n/a
13	chr5:151304770-151304820	K562	blood:	n/a
14	chr5:151304770-151304820	U87	brain:	n/a
15	chr5:151304357-151304407	SK-N-MC	brain:	n/a
16	chr5:151304422-151304472	HEK293	kidney:	embryo
17	chr5:151304559-151304609	GM06990	blood:	n/a
18	chr5:151304422-151304472	AoSMC	blood vessel:	n/a
19	chr5:151304422-151304472	ECC-1	luminal epithelium:	n/a
20	chr5:151304422-151304472	GM19239	blood:	n/a
21	chr5:151304770-151304820	NB4	blood:	n/a
22	chr5:151304547-151304597	BE2_C	brain:	n/a
23	chr5:151304357-151304407	HNPCEpiC	eye:	n/a
24	chr5:151304488-151304538	A549	lung:	n/a
25	chr5:151304409-151304459	NHDF-neo	bronchial:	n/a
26	chr5:151304559-151304609	HRPEpiC	eye:	n/a
27	chr5:151304488-151304538	BJ	skin:	n/a
28	chr5:151304409-151304459	HAEpiC	amniotic membrane:	n/a
29	chr5:151304542-151304592	HCT-116	colon:	n/a
30	chr5:151304542-151304592	HNPCEpiC	eye:	n/a
31	chr5:151304542-151304592	HEK293	kidney:	embryo
32	chr5:151304422-151304472	HCT-116	colon:	n/a
33	chr5:151304488-151304538	PrEC	prostate:	n/a
34	chr5:151304488-151304538	HIPEpiC	eye:	n/a
35	chr5:151304559-151304609	MCF10A-Er-Src	breast:	n/a
36	chr5:151304488-151304538	AG04449	skin:	fetal
37	chr5:151304770-151304820	BJ	skin:	n/a
38	chr5:151304422-151304472	IMR90	lung:	fetal
39	chr5:151304409-151304459	ovcar-3	ovarian:	n/a
40	chr5:151304357-151304407	HRCEpiC	kidney:	n/a
41	chr5:151304409-151304459	NH-A	brain:	n/a
42	chr5:151304547-151304597	HNPCEpiC	eye:	n/a
43	chr5:151304547-151304597	HL-60	blood:	n/a
44	chr5:151304422-151304472	HMEC	breast:	n/a
45	chr5:151304770-151304820	HIPEpiC	eye:	n/a
46	chr5:151304422-151304472	Jurkat	blood:	n/a
47	chr5:151304488-151304538	HAEpiC	amniotic membrane:	n/a
48	chr5:151304488-151304538	SKMC	muscle:	n/a
49	chr5:151304488-151304538	CMK	blood:	n/a
50	chr5:151304357-151304407	HepG2	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-G3BP1-5	chr5:151304405-151306147	NONHSAT104645

No data

Variant related genes	Relation type
GLRA1	TF binding region
GLRA1	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530793826	chr5:151304428-151304429	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs77380962	chr5:151304444-151304445	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs373851803	chr5:151304445-151304446	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs560481973	chr5:151304447-151304448	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs34032169	chr5:151304455-151304456	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs34961517	chr5:151304456-151304457	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs62395882	chr5:151304464-151304465	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs549309650	chr5:151304469-151304470	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs372984292	chr5:151304480-151304481	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs199879679	chr5:151304481-151304482	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs549950468	chr5:151304497-151304498	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs534863595	chr5:151304533-151304534	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs6878033	chr5:151304543-151304544	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35204766	chr5:151304614-151304615	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs142602328	chr5:151304625-151304626	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs112495151	chr5:151304639-151304640	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs76714438	chr5:151304640-151304641	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs540646508	chr5:151304667-151304668	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs558104487	chr5:151304689-151304690	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs576042617	chr5:151304701-151304702	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs543666736	chr5:151304718-151304719	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs113150760	chr5:151304729-151304730	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs182169632	chr5:151304737-151304738	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs541645931	chr5:151304740-151304741	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs2071220	chr5:151304760-151304761	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:86)

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
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151299200-151305800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:151303400-151305200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:151303400-151305600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:151303600-151304400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr5:151303600-151304600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:151303600-151304800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:151303600-151304800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:151303600-151305000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:151303600-151305000	Active TSS	Brain Anterior Caudate	brain
10	chr5:151303600-151305400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:151304000-151304400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr5:151304000-151304400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr5:151304000-151304400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr5:151304000-151305200	Active TSS	Brain Angular Gyrus	brain
15	chr5:151304000-151305400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:151304200-151304400	Active TSS	Brain Hippocampus Middle	brain
17	chr5:151304200-151304800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:151304200-151304800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:151304200-151305200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr5:151304400-151304600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:151304400-151304600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:151304400-151304600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:151304400-151304600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr5:151304400-151304600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr5:151304400-151305000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr5:151304400-151305000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr5:151304400-151305000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:151304400-151305000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:151304400-151305200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr5:151304400-151305400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr5:151304400-151305600	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr5:151304600-151304800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:151304600-151304800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr5:151304600-151304800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:151304600-151304800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr5:151304600-151305000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr5:151304600-151305000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr5:151304800-151305000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:151304800-151305000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr5:151304800-151305000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr5:151304800-151305000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr5:151304800-151305000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr5:151304800-151305200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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