Variant report

Variant	esv3356062
Chromosome Location	chr10:835552-839750
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:633910..634891-chr10:834953..835643,3	MCF-7	breast:
2	chr10:556841..557546-chr10:834923..836004,5	MCF-7	breast:
3	chr10:739318..742202-chr10:834057..836421,2	MCF-7	breast:
4	chr10:556641..557560-chr10:835088..835885,2	K562	blood:
5	chr10:733781..736812-chr10:835046..837380,3	MCF-7	breast:
6	chr10:657394..659426-chr10:833405..835908,2	MCF-7	breast:
7	chr10:835224..837627-chr10:1092339..1094785,2	MCF-7	breast:
8	chr10:833990..835898-chr10:1099433..1102164,2	K562	blood:
9	chr10:734067..736710-chr10:835595..837174,2	MCF-7	breast:
10	chr10:284740..285439-chr10:835087..835858,2	MCF-7	breast:
11	chr10:461824..462560-chr10:834643..835579,2	MCF-7	breast:
12	chr10:826973..829590-chr10:832494..835604,4	K562	blood:
13	chr10:835119..835814-chr10:856015..856751,2	MCF-7	breast:
14	chr10:835663..837203-chr10:849697..852402,2	MCF-7	breast:
15	chr10:180500..182203-chr10:836766..839418,2	MCF-7	breast:
16	chr10:556492..557579-chr10:835209..836234,4	MCF-7	breast:
17	chr10:829650..833485-chr10:834016..837949,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067064	chromatin interactions
ENSG00000151240	chromatin interactions
ENSG00000015171	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs552485448	chr10:835596-835597	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562617831	chr10:835647-835648	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531567703	chr10:835686-835687	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375955991	chr10:835721-835722	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567835845	chr10:835730-835731	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188040303	chr10:835731-835732	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546996785	chr10:835776-835777	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181916102	chr10:835777-835778	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375071797	chr10:835854-835855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559797700	chr10:835861-835862	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556846554	chr10:835883-835884	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576652112	chr10:835903-835904	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186093079	chr10:835912-835913	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12256560	chr10:835917-835918	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572576146	chr10:835934-835935	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541498002	chr10:835955-835956	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528656268	chr10:835956-835957	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545286731	chr10:835993-835994	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565362436	chr10:835996-835997	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564563810	chr10:835997-835998	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11253443	chr10:836028-836029	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543437504	chr10:836036-836037	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371451312	chr10:836038-836039	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191889573	chr10:836046-836047	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546982189	chr10:836060-836061	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183425121	chr10:836064-836065	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561502776	chr10:836072-836073	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527472098	chr10:836082-836083	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114990051	chr10:836092-836093	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs11253444	chr10:836115-836116	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532980218	chr10:836119-836120	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369040498	chr10:836120-836121	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11253445	chr10:836147-836148	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115576020	chr10:836164-836165	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs58307907	chr10:836165-836166	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11253446	chr10:836211-836212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138525934	chr10:836232-836233	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535227701	chr10:836261-836262	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs147484790	chr10:836269-836270	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200913520	chr10:836280-836281	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186726285	chr10:836305-836306	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs71376868	chr10:836325-836326	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558499887	chr10:836345-836346	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191129920	chr10:836348-836349	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543820797	chr10:836352-836353	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs35858541	chr10:836354-836355	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs576293826	chr10:836412-836413	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537982121	chr10:836428-836429	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs11253447	chr10:836457-836458	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112509149	chr10:836530-836531	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831400-850000	Weak transcription	Fetal Heart	heart
2	chr10:831600-835600	Weak transcription	HSMMtube	muscle
3	chr10:832800-836600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr10:834000-835600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr10:834000-836000	Enhancers	Right Ventricle	heart
6	chr10:834200-836000	Enhancers	Left Ventricle	heart
7	chr10:834400-836000	Flanking Active TSS	HepG2	liver
8	chr10:834400-836200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:834600-835600	Active TSS	NHEK	skin
10	chr10:834600-836000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr10:834800-835600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr10:834800-835600	Active TSS	Brain Anterior Caudate	brain
13	chr10:834800-835600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr10:834800-835600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr10:834800-835800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:834800-835800	Flanking Active TSS	Pancreas	Pancrea
17	chr10:834800-835800	Flanking Active TSS	K562	blood
18	chr10:834800-836000	Active TSS	Rectal Smooth Muscle	rectum
19	chr10:834800-836200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr10:834800-836200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr10:835000-835600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr10:835000-835600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:835000-835600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:835000-835600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:835000-835600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:835000-835600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:835000-835600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:835000-835600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:835000-835600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:835000-835600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr10:835000-835600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:835000-835600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:835000-835600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:835000-835600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:835000-835600	Flanking Active TSS	Liver	Liver
36	chr10:835000-835600	Active TSS	Brain Substantia Nigra	brain
37	chr10:835000-835600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr10:835000-835600	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr10:835000-835600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr10:835000-835600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr10:835000-835600	Active TSS	NHLF	lung
42	chr10:835000-835600	Active TSS	Osteobl	bone
43	chr10:835000-835800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr10:835000-835800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:835000-835800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr10:835000-835800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:835000-835800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr10:835000-835800	Enhancers	Fetal Brain Male	brain
49	chr10:835000-835800	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr10:835000-835800	Enhancers	Psoas Muscle	Psoas

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