Variant report

Variant	esv9987
Chromosome Location	chr6:121512246-121517842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121425690..121428152-chr6:121509998..121512786,2	K562	blood:
2	chr6:121508220..121509830-chr6:121510757..121512526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146350	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145090586	chr6:121512249-121512250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115573157	chr6:121512275-121512276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559065690	chr6:121512320-121512321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113740627	chr6:121512346-121512347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114372918	chr6:121512415-121512416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141565565	chr6:121512467-121512468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555043110	chr6:121512474-121512475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9387926	chr6:121512531-121512532	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75280379	chr6:121512597-121512598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564732094	chr6:121512632-121512633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74600405	chr6:121512641-121512642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1273770	chr6:121512654-121512655	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560750888	chr6:121512661-121512662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529351188	chr6:121512663-121512664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182238876	chr6:121512706-121512707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541848961	chr6:121512712-121512713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569154609	chr6:121512724-121512725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531635166	chr6:121512734-121512735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551370866	chr6:121512737-121512738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150918179	chr6:121512826-121512827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112233141	chr6:121512857-121512858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202231241	chr6:121512887-121512888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149552548	chr6:121513021-121513022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200567865	chr6:121513044-121513045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147245754	chr6:121513047-121513048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575423228	chr6:121513055-121513056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113584271	chr6:121513065-121513066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201431692	chr6:121513066-121513067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199623129	chr6:121513089-121513090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112826224	chr6:121513095-121513096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111368659	chr6:121513129-121513130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540953798	chr6:121513145-121513146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560457291	chr6:121513165-121513166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529536599	chr6:121513166-121513167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112460128	chr6:121513183-121513184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202131538	chr6:121513195-121513196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377128338	chr6:121513198-121513199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369414273	chr6:121513199-121513200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376939204	chr6:121513203-121513204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371208745	chr6:121513207-121513208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368817994	chr6:121513212-121513213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375604783	chr6:121513213-121513214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372692461	chr6:121513228-121513229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57260767	chr6:121513229-121513230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79215562	chr6:121513230-121513231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562603049	chr6:121513257-121513258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111858393	chr6:121513277-121513278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551327897	chr6:121513298-121513299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115981758	chr6:121513478-121513479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190045794	chr6:121513642-121513643	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121478800-121535400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:121480200-121535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:121480800-121535400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:121481000-121535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:121494600-121516600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:121495200-121529400	Weak transcription	Primary B cells from cord blood	blood
8	chr6:121496400-121516600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:121496800-121535400	Weak transcription	Fetal Lung	lung
10	chr6:121498000-121518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:121498600-121535400	Weak transcription	Pancreas	Pancrea
12	chr6:121499000-121516000	Weak transcription	Aorta	Aorta
13	chr6:121499800-121535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:121500000-121529000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:121500200-121513800	Weak transcription	Ovary	ovary
16	chr6:121502600-121529000	Weak transcription	Left Ventricle	heart
17	chr6:121502800-121521200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:121503000-121516800	Weak transcription	Primary T cells from cord blood	blood
19	chr6:121503000-121520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:121503200-121513600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:121503200-121517000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:121503200-121517600	Weak transcription	Dnd41	blood
23	chr6:121503800-121514400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:121511400-121535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:121511800-121521200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:121511800-121535400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:121512600-121522000	Weak transcription	Fetal Stomach	stomach
29	chr6:121513600-121514400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:121513800-121514600	Strong transcription	Ovary	ovary
31	chr6:121514200-121535600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:121514400-121515400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:121514600-121529400	Weak transcription	Ovary	ovary
34	chr6:121515000-121535800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:121515200-121518600	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:121515200-121535400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:121515200-121535400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:121515400-121518600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:121515400-121535400	Weak transcription	Gastric	stomach
40	chr6:121515600-121544200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:121515800-121532800	Weak transcription	Fetal Intestine Small	intestine
42	chr6:121516000-121517600	Strong transcription	Aorta	Aorta
43	chr6:121516000-121535400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:121516000-121560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:121516600-121516800	Enhancers	Esophagus	oesophagus
46	chr6:121516600-121516800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr6:121516600-121517400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:121516600-121518200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:121516800-121519000	Strong transcription	Primary T cells from cord blood	blood
50	chr6:121516800-121521400	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links