Variant report

Variant	esv3412471
Chromosome Location	chr6:75956857-75959405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:75959338-75959576	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:75959131-75959988	A549	lung:	n/a	n/a
3	POLR2A	chr6:75955892-75957085	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:75955233-75957769	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:75957398-75957544	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:75955195-75957151	A549	lung:	n/a	n/a
7	POLR2A	chr6:75957359-75957744	A549	lung:	n/a	n/a
8	POLR2A	chr6:75957457-75957679	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:75956815-75956885	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr6:75955366-75957078	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:75957497-75957623	K562	blood:	n/a	n/a
12	POLR2A	chr6:75959276-75959939	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:75958951-75961937	K562	blood:	n/a	n/a
14	POLR2A	chr6:75955336-75957839	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:75952173..75955375-chr6:75955381..75959896,5	K562	blood:
2	chr6:75955366..75958465-chr6:75960762..75964023,3	K562	blood:
3	chr6:75952010..75957701-chr6:75957886..75965537,16	MCF-7	breast:
4	chr6:75955906..75957711-chr6:75981620..75983843,2	MCF-7	breast:
5	chr6:75952010..75957701-chr6:75957886..75965537,16	MCF-7	breast:

No data

Variant related genes	Relation type
COX7A2	TF binding region
ENSG00000112695	chromatin interactions
ENSG00000112697	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181578205	chr6:75956858-75956859	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs147652299	chr6:75956872-75956873	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs142165968	chr6:75956884-75956885	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs186079362	chr6:75956906-75956907	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539770382	chr6:75956923-75956924	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539715866	chr6:75956934-75956935	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201071551	chr6:75956940-75956941	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs558067989	chr6:75956950-75956951	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs554624673	chr6:75956972-75956973	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73747451	chr6:75956991-75956992	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540553111	chr6:75957029-75957030	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs73747452	chr6:75957061-75957062	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532381740	chr6:75957185-75957186	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs74753229	chr6:75957194-75957195	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371933674	chr6:75957247-75957248	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs192385726	chr6:75957268-75957269	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141922937	chr6:75957310-75957311	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs200301593	chr6:75957311-75957312	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs3028625	chr6:75957312-75957313	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs111448814	chr6:75957313-75957314	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs577349919	chr6:75957331-75957332	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201436077	chr6:75957406-75957407	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541177029	chr6:75957407-75957408	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs543869313	chr6:75957409-75957410	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs530915238	chr6:75957423-75957424	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs548938121	chr6:75957439-75957440	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs560963937	chr6:75957463-75957464	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs528767828	chr6:75957469-75957470	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs547301852	chr6:75957541-75957542	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs571748493	chr6:75957561-75957562	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs182436803	chr6:75957632-75957633	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs550895651	chr6:75957633-75957634	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs568942229	chr6:75957686-75957687	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs4466226	chr6:75957689-75957690	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4632863	chr6:75957710-75957711	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs199918221	chr6:75957752-75957753	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544277194	chr6:75957755-75957756	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572903467	chr6:75957771-75957772	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199841722	chr6:75957800-75957801	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201198970	chr6:75957801-75957802	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187815215	chr6:75958122-75958123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533840718	chr6:75958219-75958220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs240427	chr6:75958235-75958236	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112523426	chr6:75958251-75958252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112875759	chr6:75958255-75958256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577072176	chr6:75958271-75958272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374685213	chr6:75958357-75958358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376150002	chr6:75958358-75958359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544349139	chr6:75958365-75958366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201098429	chr6:75958435-75958436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75953800-75978200	Weak transcription	Gastric	stomach
2	chr6:75953800-75982200	Weak transcription	Spleen	Spleen
3	chr6:75954000-75974000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:75954200-75959600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:75954200-75961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:75954200-75961400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:75954200-75962800	Weak transcription	Left Ventricle	heart
8	chr6:75954200-75963400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:75954200-75963400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:75954200-75963800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:75954200-75964800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:75954200-75965000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:75954200-75965200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:75954200-75966400	Weak transcription	Aorta	Aorta
15	chr6:75954200-75967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:75954200-75969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:75954200-75971600	Weak transcription	K562	blood
18	chr6:75954200-75973200	Weak transcription	Psoas Muscle	Psoas
19	chr6:75954200-75978000	Weak transcription	Pancreas	Pancrea
20	chr6:75954200-75978000	Weak transcription	Small Intestine	intestine
21	chr6:75954200-75978000	Weak transcription	Stomach Mucosa	stomach
22	chr6:75954200-75978200	Weak transcription	Esophagus	oesophagus
23	chr6:75954200-75978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:75954400-75957400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:75954400-75959000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:75954400-75959000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:75954400-75959000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:75954400-75959400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:75954400-75959400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:75954400-75960200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:75954400-75962400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:75954400-75962800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:75954400-75962800	Weak transcription	Liver	Liver
34	chr6:75954400-75962800	Weak transcription	HUVEC	blood vessel
35	chr6:75954400-75962800	Weak transcription	NH-A	brain
36	chr6:75954400-75963000	Weak transcription	Lung	lung
37	chr6:75954400-75963200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:75954400-75963400	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:75954400-75963400	Weak transcription	Placenta	Placenta
40	chr6:75954400-75963400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:75954400-75963600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:75954400-75963800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:75954400-75965000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:75954400-75965000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:75954400-75965000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:75954400-75965000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:75954400-75965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:75954400-75965600	Weak transcription	Ovary	ovary
49	chr6:75954400-75967400	Weak transcription	Brain Angular Gyrus	brain
50	chr6:75954400-75968000	Weak transcription	NHEK	skin

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