Variant report

Variant	esv3472936
Chromosome Location	chr6:88118090-88118374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:88118339-88118784	K562	blood:	n/a	n/a
2	BACH1	chr6:88117915-88118105	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr6:88117643-88118136	GM12878	blood:	n/a	chr6:88117953-88117962 chr6:88117954-88117967 chr6:88117696-88117705
4	CBX3	chr6:88117709-88118238	K562	blood:	n/a	n/a
5	CCNT2	chr6:88117689-88118523	K562	blood:	n/a	n/a
6	CHD2	chr6:88117550-88118212	HepG2	liver:	n/a	n/a
7	CHD2	chr6:88117481-88118536	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr6:88117835-88118131	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr6:88117666-88118185	K562	blood:	n/a	n/a
10	CHD2	chr6:88117789-88118307	GM12878	blood:	n/a	n/a
11	CTCF	chr6:88117697-88118140	K562	blood:	n/a	chr6:88117985-88117998
12	CTCF	chr6:88118100-88118362	A549	lung:	n/a	n/a
13	CTCF	chr6:88118020-88118170	HRE	kidney:	n/a	n/a
14	CTCF	chr6:88118158-88118170	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr6:88118020-88118170	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr6:88118140-88118153	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr6:88118000-88118150	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr6:88118171-88118178	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr6:88117687-88118120	GM12878	blood:	n/a	chr6:88117985-88117998
20	CTCF	chr6:88118325-88118377	Spleen_OC	spleen:	n/a	n/a
21	E2F4	chr6:88117794-88118467	MCF10A-Er-Src	breast:	n/a	chr6:88118355-88118364 chr6:88117870-88117880 chr6:88117888-88117898
22	EBF1	chr6:88117906-88118284	GM12878	blood:	n/a	n/a
23	ELF1	chr6:88117661-88118361	GM12878	blood:	n/a	chr6:88117988-88117997 chr6:88118156-88118165 chr6:88117838-88117847 chr6:88117817-88117829
24	ELF1	chr6:88117653-88118147	GM12878	blood:	n/a	chr6:88117988-88117997 chr6:88117838-88117847 chr6:88117817-88117829
25	ELK1	chr6:88117843-88118665	Hela-S3	cervix:	n/a	n/a
26	EP300	chr6:88117562-88118110	MCF-7	breast:	n/a	n/a
27	ETS1	chr6:88117626-88118154	K562	blood:	n/a	chr6:88117667-88117678
28	ETS1	chr6:88117673-88118112	GM12878	blood:	n/a	n/a
29	FOXM1	chr6:88117588-88118367	GM12878	blood:	n/a	n/a
30	GATA1	chr6:88117907-88118776	PBDE	blood:	n/a	chr6:88118365-88118376
31	GATA2	chr6:88117765-88118648	SH-SY5Y	brain:	n/a	chr6:88118365-88118376
32	GATA3	chr6:88117551-88118184	MCF-7	breast:	n/a	n/a
33	GATA3	chr6:88118230-88118604	T-47D	breast:	n/a	chr6:88118365-88118376
34	GTF2F1	chr6:88117936-88118605	Hela-S3	cervix:	n/a	n/a
35	HA-E2F1	chr6:88117359-88118637	MCF-7	breast:	n/a	chr6:88118355-88118364 chr6:88117870-88117880 chr6:88117662-88117672 chr6:88117667-88117676 chr6:88117888-88117898
36	HCFC1	chr6:88117758-88118656	K562	blood:	n/a	n/a
37	HDAC2	chr6:88117730-88118170	H1-hESC	embryonic stem cell:	n/a	n/a
38	HEY1	chr6:88118174-88118636	K562	blood:	n/a	n/a
39	HEY1	chr6:88118180-88118402	K562	blood:	n/a	n/a
40	HEY1	chr6:88118106-88118530	HepG2	liver:	n/a	chr6:88118154-88118169
41	HMGN3	chr6:88117700-88118448	K562	blood:	n/a	n/a
42	JUND	chr6:88117740-88118721	K562	blood:	n/a	n/a
43	KAP1	chr6:88117766-88118120	HEK293	kidney:	n/a	n/a
44	MAFK	chr6:88117957-88118747	Hela-S3	cervix:	n/a	chr6:88118596-88118607 chr6:88118597-88118608 chr6:88118596-88118607
45	MAX	chr6:88117995-88118192	HepG2	liver:	n/a	n/a
46	MAX	chr6:88117549-88118210	ECC-1	luminal epithelium:	n/a	chr6:88117668-88117678
47	MAX	chr6:88117633-88118221	K562	blood:	n/a	chr6:88117668-88117678
48	MAX	chr6:88117650-88118261	A549	lung:	n/a	chr6:88117668-88117678
49	MAX	chr6:88117657-88118588	Hela-S3	cervix:	n/a	chr6:88117668-88117678
50	MAX	chr6:88117728-88118604	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:88118362-88118412	ProgFib	skin:	n/a
2	chr6:88118362-88118412	SKMC	muscle:	n/a
3	chr6:88118362-88118412	Hela-S3	cervix:	n/a
4	chr6:88118362-88118412	RPTEC	kidney:	n/a
5	chr6:88118362-88118412	AG10803	skin:	n/a
6	chr6:88118362-88118412	HAEpiC	amniotic membrane:	n/a
7	chr6:88118362-88118412	GM12878	blood:	n/a
8	chr6:88118362-88118412	BJ	skin:	n/a
9	chr6:88118362-88118412	NT2-D1	testis:	n/a
10	chr6:88118362-88118412	GM06990	blood:	n/a
11	chr6:88118362-88118412	Jurkat	blood:	n/a
12	chr6:88118362-88118412	MCF10A-Er-Src	breast:	n/a
13	chr6:88118362-88118412	HCPEpiC	choroid plexus:	n/a
14	chr6:88118362-88118412	HMEC	breast:	n/a
15	chr6:88118362-88118412	GM19239	blood:	n/a
16	chr6:88118362-88118412	ovcar-3	ovarian:	n/a
17	chr6:88118362-88118412	IMR90	lung:	fetal
18	chr6:88118362-88118412	NHDF-neo	bronchial:	n/a
19	chr6:88118362-88118412	HRE	kidney:	n/a
20	chr6:88118362-88118412	PANC-1	pancreas:	n/a
21	chr6:88118362-88118412	HepG2	liver:	n/a
22	chr6:88118362-88118412	HCF	heart:	n/a
23	chr6:88118362-88118412	CMK	blood:	n/a
24	chr6:88118362-88118412	AG09319	gingival:	n/a
25	chr6:88118362-88118412	HCM	heart:	n/a
26	chr6:88118362-88118412	Hepatocyte	liver:	n/a
27	chr6:88118362-88118412	AoSMC	blood vessel:	n/a
28	chr6:88118362-88118412	Caco-2	colon:	n/a
29	chr6:88118362-88118412	HRCEpiC	kidney:	n/a
30	chr6:88118362-88118412	NB4	blood:	n/a
31	chr6:88118362-88118412	HL-60	blood:	n/a
32	chr6:88118362-88118412	AG04449	skin:	fetal
33	chr6:88118362-88118412	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:88118362-88118412	AG09309	skin:	n/a
35	chr6:88118362-88118412	ECC-1	luminal epithelium:	n/a
36	chr6:88118362-88118412	A549	lung:	n/a
37	chr6:88118362-88118412	HEK293	kidney:	embryo
38	chr6:88118362-88118412	HCT-116	colon:	n/a
39	chr6:88118362-88118412	HIPEpiC	eye:	n/a
40	chr6:88118362-88118412	HUVEC	blood vessel:	n/a
41	chr6:88118362-88118412	MCF-7	breast:	n/a
42	chr6:88118362-88118412	AG04450	lung:	fetal
43	chr6:88118362-88118412	SK-N-MC	brain:	n/a
44	chr6:88118362-88118412	PrEC	prostate:	n/a
45	chr6:88118362-88118412	NH-A	brain:	n/a
46	chr6:88118362-88118412	BE2_C	brain:	n/a
47	chr6:88118362-88118412	PFSK-1	brain:	n/a
48	chr6:88118362-88118412	U87	brain:	n/a
49	chr6:88118362-88118412	T-47D	breast:	n/a
50	chr6:88118362-88118412	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88116849..88119599-chr6:88181543..88183591,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272514	TF binding region
ENSG00000272514	CpG island
ENSG00000164414	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373570019	chr6:88118121-88118122	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547527576	chr6:88118129-88118130	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372496850	chr6:88118135-88118136	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565979427	chr6:88118140-88118141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11964237	chr6:88118161-88118162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs554877082	chr6:88118175-88118176	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs71018011	chr6:88118196-88118197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569994352	chr6:88118208-88118209	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532304914	chr6:88118240-88118241	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537318647	chr6:88118256-88118257	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558540982	chr6:88118261-88118262	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576724797	chr6:88118290-88118291	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183178387	chr6:88118326-88118327	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553091713	chr6:88118348-88118349	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376213536	chr6:88118351-88118352	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88116800-88118400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr6:88116800-88118600	Active TSS	Muscle Satellite Cultured Cells	--
3	chr6:88116800-88118800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:88116800-88119000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:88116800-88119000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:88116800-88119000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:88116800-88119000	Active TSS	NHDF-Ad	bronchial
8	chr6:88117000-88118400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:88117000-88118400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:88117000-88118400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr6:88117000-88118400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:88117000-88118400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr6:88117000-88118400	Active TSS	GM12878-XiMat	blood
14	chr6:88117000-88118400	Active TSS	HMEC	breast
15	chr6:88117000-88118400	Active TSS	HSMM	muscle
16	chr6:88117000-88118400	Active TSS	NHEK	skin
17	chr6:88117000-88118600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:88117000-88118600	Active TSS	Adipose Nuclei	Adipose
19	chr6:88117000-88118600	Active TSS	HSMMtube	muscle
20	chr6:88117000-88118800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:88117000-88118800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:88117000-88118800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:88117000-88118800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:88117000-88118800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:88117000-88118800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:88117000-88118800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:88117000-88118800	Active TSS	Brain Angular Gyrus	brain
28	chr6:88117000-88118800	Active TSS	Brain Hippocampus Middle	brain
29	chr6:88117000-88118800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:88117000-88118800	Active TSS	Colonic Mucosa	Colon
31	chr6:88117000-88118800	Active TSS	Fetal Brain Male	brain
32	chr6:88117000-88118800	Active TSS	Fetal Stomach	stomach
33	chr6:88117000-88118800	Active TSS	Ovary	ovary
34	chr6:88117000-88118800	Active TSS	Right Atrium	heart
35	chr6:88117000-88118800	Active TSS	Stomach Smooth Muscle	stomach
36	chr6:88117000-88118800	Active TSS	A549	lung
37	chr6:88117000-88119000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:88117000-88119000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr6:88117000-88119000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:88117000-88119000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:88117000-88119000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:88117000-88119000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:88117000-88119000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:88117000-88119000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:88117000-88119000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:88117000-88119000	Active TSS	Brain Anterior Caudate	brain
47	chr6:88117000-88119000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:88117000-88119000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:88117000-88119000	Active TSS	K562	blood
50	chr6:88117000-88119000	Active TSS	NH-A	brain

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