Variant report

Variant	esv3333350
Chromosome Location	chr6:121556253-121560051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:121558160-121558310	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr6:121558260-121558410	HVMF	connective:	n/a	n/a
3	CTCF	chr6:121558240-121558390	HMF	breast:	n/a	n/a
4	CTCF	chr6:121558220-121558370	WI-38	lung:	n/a	n/a
5	CTCF	chr6:121558300-121558450	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr6:121558300-121558450	AG04450	lung:	n/a	n/a
7	CTCF	chr6:121558420-121558570	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr6:121558200-121558499	GM12878	blood:	n/a	n/a
9	CTCF	chr6:121558207-121558482	IMR90	lung:	n/a	n/a
10	CTCF	chr6:121558240-121558390	AG09319	gingival:	n/a	n/a
11	CTCF	chr6:121558300-121558450	HPF	lung:	n/a	n/a
12	CTCF	chr6:121558280-121558430	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr6:121558260-121558410	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr6:121558300-121558450	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr6:121558180-121558330	HAc	cerebellar:	n/a	n/a
16	CTCF	chr6:121558300-121558450	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr6:121558300-121558450	HVMF	connective:	n/a	n/a
18	CTCF	chr6:121556342-121556393	GM13977	blood:	n/a	n/a
19	CTCF	chr6:121558280-121558430	HCFaa	heart:	n/a	n/a
20	CTCF	chr6:121558240-121558390	AG10803	skin:	n/a	n/a
21	CTCF	chr6:121558180-121558330	HMF	breast:	n/a	n/a
22	FOS	chr6:121559047-121559372	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr6:121559048-121559399	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:121559026-121559391	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:121558942-121559384	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:121559746-121559839	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:121558896-121559088	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr6:121559264-121559451	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr6:121559059-121559377	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr6:121559058-121559391	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr6:121558831-121559617	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121559791..121562429-chr6:121562632..121564241,2	K562	blood:

No data

Variant related genes	Relation type
TBC1D32	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536263516	chr6:121556264-121556265	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs61293964	chr6:121556295-121556296	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117194362	chr6:121556354-121556355	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539225580	chr6:121556448-121556449	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559241283	chr6:121556453-121556454	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7744869	chr6:121556457-121556458	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541504284	chr6:121556530-121556531	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561389398	chr6:121556540-121556541	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369945173	chr6:121556558-121556559	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73768940	chr6:121556607-121556608	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543836641	chr6:121556638-121556639	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562633872	chr6:121556655-121556656	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191260019	chr6:121556710-121556711	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs138283692	chr6:121556733-121556734	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564696621	chr6:121556763-121556764	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527496583	chr6:121556774-121556775	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547058730	chr6:121556797-121556798	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369596110	chr6:121556798-121556799	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143796110	chr6:121556809-121556810	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376928769	chr6:121556876-121556877	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535855785	chr6:121556884-121556885	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12212646	chr6:121556964-121556965	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570248851	chr6:121556977-121556978	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201141911	chr6:121556991-121556992	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539290659	chr6:121557010-121557011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559310168	chr6:121557015-121557016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77400242	chr6:121557029-121557030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535260817	chr6:121557030-121557031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146368087	chr6:121557053-121557054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184633630	chr6:121557069-121557070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568483074	chr6:121557092-121557093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76797106	chr6:121557105-121557106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563655381	chr6:121557176-121557177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577179944	chr6:121557218-121557219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554930844	chr6:121557222-121557223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139113824	chr6:121557239-121557240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527457962	chr6:121557243-121557244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35408887	chr6:121557277-121557278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397796876	chr6:121557288-121557289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80109158	chr6:121557290-121557291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9482125	chr6:121557307-121557308	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560809908	chr6:121557492-121557493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529843623	chr6:121557566-121557567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141477919	chr6:121557597-121557598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550482765	chr6:121557619-121557620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532167662	chr6:121557658-121557659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552883200	chr6:121557666-121557667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566411636	chr6:121557678-121557679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535223549	chr6:121557682-121557683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555195117	chr6:121557730-121557731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:121516000-121560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:121533000-121566800	Weak transcription	Stomach Mucosa	stomach
4	chr6:121535000-121569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:121536200-121567200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:121536600-121556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:121536600-121556600	Weak transcription	Left Ventricle	heart
8	chr6:121536600-121558400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:121536600-121566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:121536600-121568200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:121536800-121556600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:121536800-121565600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:121536800-121566000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:121536800-121566000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:121536800-121566000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:121537200-121562400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:121537400-121556600	Weak transcription	Right Ventricle	heart
21	chr6:121537400-121567800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:121538200-121565800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:121538200-121567000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:121539200-121567600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:121539400-121562200	Weak transcription	Fetal Kidney	kidney
26	chr6:121539400-121563200	Weak transcription	Brain Substantia Nigra	brain
27	chr6:121540400-121567800	Weak transcription	Adipose Nuclei	Adipose
28	chr6:121541200-121585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:121544400-121581600	Weak transcription	HSMM	muscle
30	chr6:121544800-121581400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:121549800-121556600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:121552600-121561800	Weak transcription	Fetal Brain Male	brain
33	chr6:121552600-121569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:121552800-121566000	Weak transcription	Gastric	stomach
35	chr6:121552800-121567800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:121553200-121559000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:121553600-121556600	Weak transcription	HSMMtube	muscle
38	chr6:121553800-121557800	Weak transcription	Fetal Thymus	thymus
39	chr6:121554200-121568000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:121554600-121556600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:121554800-121567000	Weak transcription	Placenta	Placenta
42	chr6:121555000-121556600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:121555000-121567200	Weak transcription	Colonic Mucosa	Colon
44	chr6:121555200-121557600	Weak transcription	A549	lung
45	chr6:121555600-121556600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:121555600-121558000	Weak transcription	Fetal Brain Female	brain
47	chr6:121555600-121567600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:121555600-121568000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:121555800-121557000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:121555800-121557000	Strong transcription	Fetal Intestine Large	intestine

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