Variant report

Variant	nsv551921
Chromosome Location	chr10:93668110-93668663
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:93667092..93669492-chr10:93682952..93684892,2	MCF-7	breast:
2	chr10:93667884..93668537-chr19:10613648..10614526,2	NB4	blood:
3	chr10:93668102..93670664-chr10:93683184..93685213,2	K562	blood:
4	chr10:93666676..93671284-chr10:93682037..93685018,8	MCF-7	breast:
5	chr10:93639976..93640647-chr10:93668365..93669151,4	MCF-7	breast:
6	chr10:93666065..93670682-chr10:93680624..93684315,6	K562	blood:
7	chr10:93668134..93668792-chr22:50357090..50357959,2	HCT-116	colon:
8	chr10:93555222..93557965-chr10:93666465..93668632,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTAF1-1	chr10:93668654-93669105	ENSG00000272817.1

No data

Variant related genes	Relation type
ENSG00000095564	chromatin interactions
ENSG00000228701	chromatin interactions
ENSG00000079999	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1107947	chr10:93668110-93668111	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569023750	chr10:93668119-93668120	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11186740	chr10:93668140-93668141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375841530	chr10:93668141-93668142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs144016948	chr10:93668146-93668147	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147290202	chr10:93668147-93668148	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs139228214	chr10:93668166-93668167	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs368507225	chr10:93668174-93668175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142767199	chr10:93668184-93668185	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372722249	chr10:93668203-93668204	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374461098	chr10:93668205-93668206	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs202089453	chr10:93668219-93668220	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs528736388	chr10:93668247-93668248	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548334485	chr10:93668257-93668258	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs568110442	chr10:93668258-93668259	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs34164735	chr10:93668259-93668260	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs531188271	chr10:93668269-93668270	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529040118	chr10:93668304-93668305	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs543137706	chr10:93668310-93668311	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570576273	chr10:93668346-93668347	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368583604	chr10:93668388-93668389	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs10881994	chr10:93668408-93668409	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11819077	chr10:93668424-93668425	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs192010535	chr10:93668429-93668430	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs541312392	chr10:93668434-93668435	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs11555481	chr10:93668509-93668510	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554655505	chr10:93668524-93668525	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs534654065	chr10:93668548-93668549	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543578833	chr10:93668565-93668566	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs202182077	chr10:93668626-93668627	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200450389	chr10:93668646-93668647	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536091981	chr10:93668647-93668648	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546083407	chr10:93668663-93668664	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93666200-93669600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:93666400-93668200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:93666400-93669400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:93666600-93668800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr10:93666800-93668200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:93666800-93669400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr10:93667000-93668200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:93667000-93668200	Flanking Active TSS	Dnd41	blood
9	chr10:93667000-93669000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:93667000-93669200	Active TSS	Rectal Smooth Muscle	rectum
11	chr10:93667000-93669400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:93667000-93669600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:93667000-93669600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:93667200-93668200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:93667200-93669200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:93667200-93669400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:93667200-93669400	Active TSS	Colon Smooth Muscle	Colon
18	chr10:93667200-93669600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:93667200-93669600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr10:93667200-93669600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr10:93667200-93669600	Active TSS	NHDF-Ad	bronchial
22	chr10:93667200-93669800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:93667400-93668200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr10:93667400-93668200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr10:93667400-93668200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr10:93667400-93668200	Flanking Active TSS	HUVEC	blood vessel
27	chr10:93667400-93668200	Flanking Active TSS	NHEK	skin
28	chr10:93667400-93668400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr10:93667400-93668800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:93667400-93668800	Active TSS	Osteobl	bone
31	chr10:93667400-93669200	Active TSS	NHLF	lung
32	chr10:93667400-93669400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:93667400-93669400	Active TSS	Fetal Intestine Small	intestine
34	chr10:93667400-93669400	Active TSS	Fetal Muscle Trunk	muscle
35	chr10:93667400-93669600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr10:93667400-93669600	Active TSS	Brain Cingulate Gyrus	brain
37	chr10:93667400-93670000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:93667600-93668200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:93667600-93668200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr10:93667600-93668200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr10:93667600-93668200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:93667600-93668200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr10:93667600-93668200	Flanking Active TSS	HMEC	breast
44	chr10:93667600-93668200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr10:93667600-93668800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr10:93667600-93668800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr10:93667600-93668800	Active TSS	GM12878-XiMat	blood
48	chr10:93667600-93669000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:93667600-93669000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:93667600-93669000	Active TSS	Fetal Muscle Leg	muscle

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