Variant report

Variant	esv3451317
Chromosome Location	chr6:118938758-118947624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118886471..118886972-chr6:118940114..118940818,2	MCF-7	breast:
2	chr6:118934931..118936931-chr6:118942761..118945243,2	K562	blood:
3	chr6:118901771..118902663-chr6:118939336..118940142,2	MCF-7	breast:
4	chr6:118888846..118889639-chr6:118939253..118940221,2	MCF-7	breast:
5	chr6:118605109..118605668-chr6:118939709..118940369,2	MCF-7	breast:
6	chr6:118940069..118941748-chr6:118946896..118949839,2	K562	blood:
7	chr6:118829745..118830555-chr6:118939535..118940562,3	MCF-7	breast:
8	chr6:118886488..118887139-chr6:118939697..118940461,3	MCF-7	breast:
9	chr6:118939806..118940379-chr6:119121824..119122493,2	MCF-7	breast:
10	chr6:118940069..118941748-chr6:118946896..118949839,2	K562	blood:
11	chr6:118945176..118946744-chr6:118971211..118973525,2	K562	blood:
12	chr6:118826989..118829311-chr6:118938215..118940660,2	K562	blood:
13	chr6:118022095..118025042-chr6:118942481..118945172,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111860	chromatin interactions

Extended variants
information (count: 355 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539239716	chr6:118938782-118938783	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559266060	chr6:118938794-118938795	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188570246	chr6:118938840-118938841	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533541630	chr6:118938841-118938842	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368466152	chr6:118938868-118938869	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553760147	chr6:118938901-118938902	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573652882	chr6:118938968-118938969	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542746363	chr6:118938999-118939000	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562251101	chr6:118939010-118939011	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544822987	chr6:118939016-118939017	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560925054	chr6:118939026-118939027	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527617443	chr6:118939061-118939062	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181654200	chr6:118939074-118939075	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140717515	chr6:118939104-118939105	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530051538	chr6:118939110-118939111	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372813417	chr6:118939113-118939114	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571975986	chr6:118939114-118939115	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570186338	chr6:118939127-118939128	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185902636	chr6:118939139-118939140	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191563737	chr6:118939144-118939145	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566356821	chr6:118939178-118939179	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7739395	chr6:118939181-118939182	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116358628	chr6:118939199-118939200	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573538646	chr6:118939247-118939248	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182559175	chr6:118939257-118939258	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555809605	chr6:118939297-118939298	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187132303	chr6:118939337-118939338	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529794260	chr6:118939347-118939348	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564765643	chr6:118939352-118939353	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557053273	chr6:118939398-118939399	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191131051	chr6:118939541-118939542	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201511984	chr6:118939581-118939582	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185944341	chr6:118939623-118939624	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541281190	chr6:118939641-118939642	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536872104	chr6:118939645-118939646	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546498787	chr6:118939671-118939672	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115455148	chr6:118939676-118939677	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563760053	chr6:118939686-118939687	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116051959	chr6:118939703-118939704	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147961282	chr6:118939730-118939731	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566305813	chr6:118939744-118939745	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182105597	chr6:118939749-118939750	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548814159	chr6:118939753-118939754	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369599349	chr6:118939768-118939769	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558797922	chr6:118939884-118939885	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78999834	chr6:118939911-118939912	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374041603	chr6:118939923-118939924	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536206819	chr6:118939925-118939926	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577100344	chr6:118939926-118939927	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555774663	chr6:118939965-118939966	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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	22522925	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118902200-118939800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:118912200-118939000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:118912200-118966200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:118913000-118940200	Weak transcription	Ovary	ovary
5	chr6:118920800-118951200	Weak transcription	HSMM	muscle
6	chr6:118923000-118939000	Weak transcription	Right Ventricle	heart
7	chr6:118925000-118938800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:118925000-118945000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:118926400-118940000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:118926600-118939800	Weak transcription	Left Ventricle	heart
11	chr6:118926600-118947000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:118927000-118965000	Weak transcription	NHLF	lung
13	chr6:118928000-118952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:118928200-118939800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:118928400-118939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:118928800-118951800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:118928800-118951800	Weak transcription	Spleen	Spleen
18	chr6:118929200-118947000	Weak transcription	Thymus	Thymus
19	chr6:118930200-118939800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:118931200-118939800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:118931600-118939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:118931600-118970400	Weak transcription	NH-A	brain
23	chr6:118931800-118939800	Weak transcription	Gastric	stomach
24	chr6:118932000-118939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:118932200-118939800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:118932800-118943000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:118933200-118940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:118933400-118939600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:118933400-118940000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:118933600-118939800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:118933600-118946800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:118934400-118938800	Weak transcription	Fetal Thymus	thymus
33	chr6:118934400-118939000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:118934400-118940200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:118935400-118939600	Strong transcription	Primary T cells from cord blood	blood
36	chr6:118935600-118939000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:118935600-118951400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:118935800-118939800	Weak transcription	GM12878-XiMat	blood
39	chr6:118936200-118939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:118936600-118939800	Weak transcription	HMEC	breast
41	chr6:118936800-118939800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:118937000-118938800	Weak transcription	Fetal Brain Female	brain
43	chr6:118937000-118938800	Weak transcription	Fetal Stomach	stomach
44	chr6:118937000-118939000	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:118937000-118939400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:118937000-118940200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:118937000-118947000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:118937200-118938800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:118937200-118939600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:118937200-118939800	Weak transcription	Osteobl	bone

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