Variant report

Variant	nsv551950
Chromosome Location	chr10:96162441-96163144
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:96160448..96164371-chr10:96304138..96307716,8	MCF-7	breast:
2	chr10:96121730..96122942-chr10:96161863..96162614,3	Hela-S3	cervix:
3	chr10:96121306..96124383-chr10:96159927..96163798,5	MCF-7	breast:
4	chr10:96162530..96165019-chr10:96199067..96201077,2	MCF-7	breast:
5	chr10:96161889..96162635-chr9:88897007..88897760,2	Hela-S3	cervix:
6	chr10:96162320..96165263-chr10:96165537..96170524,5	K562	blood:
7	chr10:96162368..96164918-chr10:96174079..96176855,3	K562	blood:
8	chr10:96120934..96124258-chr10:96160439..96165957,6	MCF-7	breast:
9	chr10:96121005..96123981-chr10:96160609..96162843,2	K562	blood:
10	chr10:96162267..96164235-chr10:96185502..96188240,3	MCF-7	breast:
11	chr10:96122660..96124273-chr10:96159058..96162494,4	K562	blood:
12	chr10:96162017..96163519-chr15:65596803..65598979,2	MCF-7	breast:
13	chr10:96159758..96162488-chr10:96305268..96307065,2	K562	blood:
14	chr10:96162673..96164608-chr10:96201520..96204137,3	MCF-7	breast:
15	chr10:96162891..96164490-chr10:96175616..96177129,2	MCF-7	breast:
16	chr10:96162121..96162677-chr5:154317419..154318125,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions
ENSG00000119969	chromatin interactions
ENSG00000135070	chromatin interactions
ENSG00000173145	chromatin interactions
ENSG00000082516	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200798014	chr10:96162443-96162444	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs573344096	chr10:96162453-96162454	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs373772939	chr10:96162461-96162462	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs371213453	chr10:96162463-96162464	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs578007960	chr10:96162496-96162497	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs540259659	chr10:96162506-96162507	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560424908	chr10:96162548-96162549	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs529499164	chr10:96162592-96162593	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs146846523	chr10:96162619-96162620	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs562709067	chr10:96162682-96162683	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs531797574	chr10:96162685-96162686	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs551482751	chr10:96162693-96162694	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs367696898	chr10:96162730-96162731	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs200792738	chr10:96162766-96162767	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527322317	chr10:96162792-96162793	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs547374715	chr10:96162795-96162796	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567567845	chr10:96162801-96162802	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs536521261	chr10:96162827-96162828	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs556406071	chr10:96162888-96162889	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs1111067	chr10:96162920-96162921	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569863734	chr10:96162933-96162934	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs538454677	chr10:96162979-96162980	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs558274229	chr10:96163008-96163009	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2477534	chr10:96163039-96163040	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540236850	chr10:96163049-96163050	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs553722737	chr10:96163052-96163053	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538323881	chr10:96163120-96163121	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs75728452	chr10:96163130-96163131	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542948261	chr10:96163140-96163141	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs563018270	chr10:96163144-96163145	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96161200-96164000	Active TSS	Placenta	Placenta
2	chr10:96161600-96163800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr10:96161600-96164200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr10:96161600-96164600	Active TSS	Rectal Smooth Muscle	rectum
5	chr10:96161600-96164800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:96161600-96164800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:96161600-96164800	Active TSS	Stomach Smooth Muscle	stomach
8	chr10:96161600-96164800	Active TSS	Hela-S3	cervix
9	chr10:96161600-96165000	Active TSS	Brain Anterior Caudate	brain
10	chr10:96161600-96165000	Active TSS	Fetal Intestine Large	intestine
11	chr10:96161600-96165400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:96161800-96162600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:96161800-96162600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr10:96161800-96162600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:96161800-96162600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:96161800-96162800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr10:96161800-96162800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr10:96161800-96162800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:96161800-96162800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:96161800-96163000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr10:96161800-96163400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:96161800-96163400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr10:96161800-96163600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr10:96161800-96163600	Active TSS	Liver	Liver
25	chr10:96161800-96163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:96161800-96163800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr10:96161800-96163800	Active TSS	Esophagus	oesophagus
28	chr10:96161800-96163800	Active TSS	Fetal Kidney	kidney
29	chr10:96161800-96163800	Active TSS	Gastric	stomach
30	chr10:96161800-96164000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:96161800-96164000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr10:96161800-96164000	Active TSS	Fetal Muscle Trunk	muscle
33	chr10:96161800-96164000	Active TSS	Fetal Stomach	stomach
34	chr10:96161800-96164000	Active TSS	Left Ventricle	heart
35	chr10:96161800-96164000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr10:96161800-96164000	Bivalent/Poised TSS	Thymus	Thymus
37	chr10:96161800-96164000	Active TSS	HUVEC	blood vessel
38	chr10:96161800-96164200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:96161800-96164200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:96161800-96164200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:96161800-96164200	Active TSS	Colon Smooth Muscle	Colon
42	chr10:96161800-96164200	Active TSS	Ovary	ovary
43	chr10:96161800-96164200	Active TSS	Psoas Muscle	Psoas
44	chr10:96161800-96164200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:96161800-96164400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:96161800-96164400	Active TSS	Fetal Lung	lung
47	chr10:96161800-96164600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:96161800-96164600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:96161800-96164600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr10:96161800-96164800	Active TSS	Aorta	Aorta

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