Variant report

Variant	esv3386796
Chromosome Location	chr10:118893062-118895160
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	chr10:118889635..118891838-chr10:118894016..118895689,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535939071	chr10:118893080-118893081	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184786045	chr10:118893102-118893103	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576029815	chr10:118893116-118893117	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569496313	chr10:118893145-118893146	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538410092	chr10:118893161-118893162	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558179571	chr10:118893179-118893180	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144427431	chr10:118893186-118893187	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545520368	chr10:118893190-118893191	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552916079	chr10:118893198-118893199	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6585429	chr10:118893231-118893232	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs147842697	chr10:118893249-118893250	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566542193	chr10:118893315-118893316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561412422	chr10:118893334-118893335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373982518	chr10:118893337-118893338	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141466557	chr10:118893338-118893339	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186840335	chr10:118893354-118893355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564271493	chr10:118893382-118893383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533247875	chr10:118893425-118893426	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112330391	chr10:118893455-118893456	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369343832	chr10:118893457-118893458	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529279365	chr10:118893505-118893506	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549517117	chr10:118893506-118893507	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569335733	chr10:118893564-118893565	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201441554	chr10:118893579-118893580	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200364078	chr10:118893629-118893630	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538100595	chr10:118893747-118893748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11197906	chr10:118893771-118893772	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551938880	chr10:118893810-118893811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs571879048	chr10:118893836-118893837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs534482978	chr10:118893846-118893847	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs202079132	chr10:118893879-118893880	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs554140675	chr10:118893882-118893883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs200933454	chr10:118893923-118893924	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs200538721	chr10:118893970-118893971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373002811	chr10:118893976-118893977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs377184623	chr10:118893983-118893984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs367863478	chr10:118893985-118893986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs368175224	chr10:118894026-118894027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs202082225	chr10:118894059-118894060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs387907252	chr10:118894070-118894071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs572519426	chr10:118894195-118894196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs535042708	chr10:118894250-118894251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555047946	chr10:118894252-118894253	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184272772	chr10:118894268-118894269	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150292614	chr10:118894334-118894335	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544119749	chr10:118894350-118894351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189554716	chr10:118894442-118894443	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577888861	chr10:118894477-118894478	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75048442	chr10:118894547-118894548	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561905069	chr10:118894561-118894562	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118890000-118894200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
2	chr10:118890400-118899000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr10:118890600-118894600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr10:118890600-118894800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr10:118890800-118893400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr10:118890800-118893600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr10:118890800-118893600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr10:118890800-118894600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr10:118890800-118894600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr10:118890800-118894600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr10:118891000-118894400	Bivalent/Poised TSS	NHEK	skin
12	chr10:118891200-118893600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:118891400-118893600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:118891400-118893600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:118891600-118893600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:118891600-118893600	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr10:118891800-118893600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:118891800-118894600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr10:118892000-118893400	Bivalent Enhancer	Liver	Liver
20	chr10:118892000-118893400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr10:118892200-118893200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:118892200-118893200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:118892200-118893400	Bivalent Enhancer	Colon Smooth Muscle	Colon
24	chr10:118892200-118894200	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr10:118892200-118894600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr10:118892400-118893200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr10:118892400-118893200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr10:118892400-118893400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:118892400-118893600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:118892400-118893600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:118892400-118893600	Bivalent Enhancer	Fetal Heart	heart
32	chr10:118892400-118894200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
33	chr10:118892600-118893400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:118892600-118893400	Weak transcription	Gastric	stomach
35	chr10:118892600-118893400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr10:118892600-118893600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr10:118892600-118893600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:118892600-118893600	Bivalent Enhancer	Fetal Lung	lung
39	chr10:118892600-118893800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
40	chr10:118892600-118893800	Weak transcription	Pancreas	Pancrea
41	chr10:118892600-118894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr10:118892800-118893200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:118892800-118893200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr10:118892800-118893200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:118892800-118893200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr10:118892800-118893400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr10:118892800-118893600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr10:118892800-118893800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr10:118892800-118894000	Bivalent/Poised TSS	Right Ventricle	heart
50	chr10:118893000-118893200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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