Variant report

Variant	esv3426397
Chromosome Location	chr6:121483353-121490351
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	FOXA2	chr6:121484021-121484699	A549	lung:	n/a	n/a
2	FOXA2	chr6:121484113-121484440	A549	lung:	n/a	n/a
3	GATA3	chr6:121482931-121483423	MCF-7	breast:	n/a	n/a
4	GATA3	chr6:121483112-121483376	T-47D	breast:	n/a	n/a
5	GATA3	chr6:121483125-121483453	MCF-7	breast:	n/a	n/a
6	YY1	chr6:121483684-121483923	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr6:121483738-121483902	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121490346..121493740-chr6:121494679..121497011,3	K562	blood:
2	chr6:121490346..121492777-chr6:121495275..121497722,2	K562	blood:

Variant related genes	Relation type
TBC1D32	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs147924697	chr6:121483360-121483361	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4321860	chr6:121483376-121483377	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116213291	chr6:121483409-121483410	Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375253654	chr6:121483416-121483417	Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547737163	chr6:121483481-121483482	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566487581	chr6:121483482-121483483	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527303547	chr6:121483514-121483515	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141801803	chr6:121483527-121483528	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561450071	chr6:121483530-121483531	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1776817	chr6:121483543-121483544	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550000515	chr6:121483546-121483547	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115839879	chr6:121483551-121483552	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115917948	chr6:121483564-121483565	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552272035	chr6:121483570-121483571	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566052221	chr6:121483585-121483586	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74598054	chr6:121483602-121483603	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77311728	chr6:121483621-121483622	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75349521	chr6:121483625-121483626	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74880160	chr6:121483633-121483634	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182254241	chr6:121483643-121483644	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115287689	chr6:121483669-121483670	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147111917	chr6:121483689-121483690	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536561594	chr6:121483707-121483708	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556348995	chr6:121483708-121483709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576328003	chr6:121483715-121483716	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371156672	chr6:121483718-121483719	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112175647	chr6:121483770-121483771	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559838241	chr6:121483821-121483822	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530020534	chr6:121483859-121483860	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs541847011	chr6:121483863-121483864	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs6569177	chr6:121483893-121483894	Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563360711	chr6:121483910-121483911	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs561615059	chr6:121483918-121483919	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs7763297	chr6:121483925-121483926	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7763298	chr6:121483928-121483929	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532605838	chr6:121483929-121483930	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552233209	chr6:121483959-121483960	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7763675	chr6:121483963-121483964	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549671504	chr6:121483966-121483967	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7763534	chr6:121483971-121483972	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568445710	chr6:121483998-121483999	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536522922	chr6:121483999-121484000	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7745706	chr6:121484007-121484008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569850191	chr6:121484028-121484029	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs112980126	chr6:121484041-121484042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs532385586	chr6:121484046-121484047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377351210	chr6:121484061-121484062	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546421693	chr6:121484062-121484063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs572084996	chr6:121484087-121484088	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534722846	chr6:121484088-121484089	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121473400-121499000	Weak transcription	Right Ventricle	heart
2	chr6:121474200-121483400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:121474400-121483400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:121474600-121485200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:121474600-121508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:121474800-121484000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:121475600-121483600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:121475600-121508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:121475800-121483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:121477400-121485000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:121478800-121484000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:121478800-121535400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:121479000-121505000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:121479200-121502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:121479600-121483600	Weak transcription	K562	blood
16	chr6:121479600-121501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:121480200-121502400	Weak transcription	Left Ventricle	heart
18	chr6:121480200-121504600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:121480200-121535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:121480400-121505400	Weak transcription	Adipose Nuclei	Adipose
21	chr6:121480600-121501000	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:121480600-121502200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:121480800-121484000	Weak transcription	Liver	Liver
24	chr6:121480800-121498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:121480800-121499200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:121480800-121535400	Weak transcription	Fetal Intestine Large	intestine
27	chr6:121481000-121483600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:121481000-121484000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:121481000-121502600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:121481000-121535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:121481400-121483400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:121481400-121488400	Weak transcription	Primary B cells from cord blood	blood
33	chr6:121482000-121483800	Strong transcription	Primary T cells from cord blood	blood
34	chr6:121482200-121499200	Weak transcription	Dnd41	blood
35	chr6:121482200-121499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:121482800-121498400	Weak transcription	Ovary	ovary
37	chr6:121482800-121499200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:121483200-121483400	Enhancers	Fetal Lung	lung
39	chr6:121483200-121483600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:121483400-121483600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:121483400-121483800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:121483400-121484000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:121483600-121483800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:121483600-121483800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:121483600-121483800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:121483600-121483800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:121483600-121483800	Flanking Active TSS	K562	blood
48	chr6:121483800-121484000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr6:121483800-121484000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:121483800-121484000	Active TSS	K562	blood

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