Variant report

Variant	nsv870237
Chromosome Location	chr10:556934-579045
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:564005..566324-chr10:657951..660938,2	MCF-7	breast:
2	chr10:556492..557579-chr10:835209..836234,4	MCF-7	breast:
3	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
4	chr10:556641..557560-chr10:835088..835885,2	K562	blood:
5	chr10:556675..557469-chr10:840259..840863,3	MCF-7	breast:
6	chr10:481593..483760-chr10:562967..565503,2	MCF-7	breast:
7	chr10:555810..559181-chr10:734014..736581,3	MCF-7	breast:
8	chr10:561185..563586-chr10:574597..576241,2	MCF-7	breast:
9	chr10:551731..554315-chr10:554873..557476,2	MCF-7	breast:
10	chr10:556626..557550-chr10:572468..573398,6	MCF-7	breast:
11	chr10:561226..563645-chr10:565375..568269,2	K562	blood:
12	chr10:577006..578982-chr10:591616..594323,2	MCF-7	breast:
13	chr10:556739..557438-chr10:855963..856846,3	MCF-7	breast:
14	chr10:565703..567575-chr10:571015..572923,2	MCF-7	breast:
15	chr10:561185..563586-chr10:574597..576241,2	MCF-7	breast:
16	chr10:556841..557546-chr10:834923..836004,5	MCF-7	breast:
17	chr10:565703..567575-chr10:571015..572923,2	MCF-7	breast:
18	chr10:572682..575293-chr10:584649..586274,2	MCF-7	breast:
19	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:
20	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:
21	chr10:565187..567915-chr10:586471..588342,2	MCF-7	breast:
22	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
23	chr10:556626..557550-chr10:572468..573398,6	MCF-7	breast:
24	chr10:578987..580530-chr10:655147..657083,2	MCF-7	breast:
25	chr10:561226..563645-chr10:565375..568269,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151240	chromatin interactions
ENSG00000233021	chromatin interactions

Extended variants
information (count: 1281 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538207208	chr10:557001-557002	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570973811	chr10:557085-557086	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184071785	chr10:557094-557095	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575168813	chr10:557123-557124	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368063728	chr10:557130-557131	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538519383	chr10:557138-557139	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555351241	chr10:557154-557155	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575078652	chr10:557163-557164	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540840716	chr10:557169-557170	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560524542	chr10:557171-557172	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188628817	chr10:557184-557185	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545843455	chr10:557197-557198	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370442534	chr10:557272-557273	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs17159618	chr10:557313-557314	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138449226	chr10:557339-557340	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537156350	chr10:557372-557373	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550456437	chr10:557413-557414	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560886526	chr10:557422-557423	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143925227	chr10:557439-557440	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192258646	chr10:557442-557443	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184654220	chr10:557463-557464	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538714464	chr10:557510-557511	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189016495	chr10:557529-557530	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568834262	chr10:557553-557554	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371297022	chr10:557573-557574	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112944373	chr10:557581-557582	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139371004	chr10:557583-557584	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571306779	chr10:557584-557585	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112602910	chr10:557585-557586	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372330595	chr10:557606-557607	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575213387	chr10:557654-557655	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117201422	chr10:557658-557659	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77948592	chr10:557659-557660	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191923030	chr10:557669-557670	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113538116	chr10:557683-557684	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556427946	chr10:557699-557700	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184752217	chr10:557712-557713	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541828736	chr10:557721-557722	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554326878	chr10:557722-557723	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs816582	chr10:557749-557750	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs367617891	chr10:557759-557760	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138739702	chr10:557782-557783	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560275691	chr10:557797-557798	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189474639	chr10:557811-557812	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78713315	chr10:557820-557821	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149347299	chr10:557830-557831	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78529670	chr10:557836-557837	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548230007	chr10:557848-557849	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568736477	chr10:557882-557883	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534479821	chr10:557887-557888	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:532000-557000	Weak transcription	Pancreas	Pancrea
2	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:547000-560200	Weak transcription	Aorta	Aorta
4	chr10:552200-557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:552600-567800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:553000-559400	Weak transcription	Gastric	stomach
7	chr10:553200-567000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:553400-557200	Weak transcription	A549	lung
9	chr10:554800-557600	Enhancers	Brain Angular Gyrus	brain
10	chr10:555000-558000	Enhancers	Left Ventricle	heart
11	chr10:555000-558200	Enhancers	Fetal Heart	heart
12	chr10:555200-558000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:555200-558000	Enhancers	Fetal Brain Male	brain
14	chr10:555200-558200	Enhancers	Brain Hippocampus Middle	brain
15	chr10:555200-558600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr10:555200-559400	Weak transcription	Spleen	Spleen
17	chr10:555400-557400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:555400-558200	Enhancers	Fetal Muscle Trunk	muscle
19	chr10:555600-557000	Enhancers	Esophagus	oesophagus
20	chr10:555600-557600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:555600-564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:555800-557600	Enhancers	Fetal Thymus	thymus
23	chr10:555800-557800	Enhancers	Fetal Stomach	stomach
24	chr10:556000-557000	Weak transcription	Ovary	ovary
25	chr10:556000-557200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr10:556000-557800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:556000-558000	Enhancers	Fetal Muscle Leg	muscle
28	chr10:556000-558000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr10:556000-564200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:556200-557000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr10:556200-557200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr10:556200-557200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr10:556200-557600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:556200-557600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:556200-557600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr10:556200-558000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:556200-558200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:556400-557000	Enhancers	Colonic Mucosa	Colon
39	chr10:556400-557200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr10:556400-557200	Weak transcription	Osteobl	bone
41	chr10:556400-557400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:556400-557400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr10:556400-557400	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr10:556400-557400	Enhancers	NH-A	brain
45	chr10:556400-557600	Enhancers	NHLF	lung
46	chr10:556400-558000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:556400-558000	Enhancers	Fetal Lung	lung
48	chr10:556400-558000	Enhancers	Stomach Mucosa	stomach
49	chr10:556600-557000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr10:556600-557000	Flanking Active TSS	Brain Cingulate Gyrus	brain

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