Variant report

Variant	esv3423686
Chromosome Location	chr10:99034987-99037535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:99037420-99037570	HPF	lung:	n/a	n/a
2	NR2F2	chr10:99036947-99037347	K562	blood:	n/a	n/a
3	NR2F2	chr10:99036980-99037339	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99029216..99031729-chr10:99037036..99038703,2	K562	blood:
2	chr10:99031855..99035094-chr10:99036519..99039061,3	K562	blood:
3	chr10:99036931..99039171-chr10:99085750..99087329,2	K562	blood:
4	chr10:99034381..99036020-chr10:99036062..99037985,2	K562	blood:
5	chr10:99030229..99033115-chr10:99036634..99039427,3	K562	blood:
6	chr10:99036915..99039794-chr10:99077195..99080138,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRAT1-3	chr10:99037396-99037514	NONHSAT015852

No data

Variant related genes	Relation type
ARHGAP19	TF binding region
ENSG00000231398	chromatin interactions
ENSG00000165879	chromatin interactions
ENSG00000213390	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113791038	chr10:99035100-99035101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556926690	chr10:99035331-99035332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572506160	chr10:99035377-99035378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9663652	chr10:99036412-99036413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9804257	chr10:99036422-99036423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9804258	chr10:99036423-99036424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9325485	chr10:99036436-99036437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9665520	chr10:99036539-99036540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537229996	chr10:99036552-99036553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555418889	chr10:99036556-99036557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9804331	chr10:99036604-99036605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9804277	chr10:99036700-99036701	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs9804379	chr10:99036753-99036754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs9804275	chr10:99036778-99036779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13376901	chr10:99036781-99036782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13376902	chr10:99036787-99036788	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9804276	chr10:99036828-99036829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9731615	chr10:99036897-99036898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567551004	chr10:99037384-99037385	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs371388552	chr10:99037394-99037395	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375764080	chr10:99037395-99037396	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs370008015	chr10:99037396-99037397	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs200769858	chr10:99037397-99037398	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs191206998	chr10:99037468-99037469	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Ependymoma	20639864	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98978600-99037400	Weak transcription	HSMM	muscle
2	chr10:98978600-99051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:98983000-99037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:98984600-99037600	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:98987200-99051200	Weak transcription	Pancreas	Pancrea
6	chr10:98989600-99038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:98994600-99039000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:99004800-99037400	Weak transcription	Fetal Heart	heart
9	chr10:99005200-99046800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:99013200-99037600	Weak transcription	NHLF	lung
11	chr10:99015000-99038000	Weak transcription	Fetal Brain Male	brain
12	chr10:99015400-99038200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:99016000-99038600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:99016200-99038200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:99016800-99038600	Weak transcription	HUVEC	blood vessel
16	chr10:99019400-99038200	Weak transcription	K562	blood
17	chr10:99019400-99050000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr10:99019400-99051600	Weak transcription	Ovary	ovary
19	chr10:99021400-99051000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr10:99023600-99051200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:99024000-99046800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:99024000-99050800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:99024400-99050000	Weak transcription	Spleen	Spleen
24	chr10:99024800-99051200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:99025800-99037200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:99025800-99037400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:99025800-99038000	Weak transcription	Fetal Stomach	stomach
28	chr10:99025800-99039200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:99025800-99039200	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:99025800-99050800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:99026000-99037400	Weak transcription	Dnd41	blood
32	chr10:99026000-99037400	Weak transcription	GM12878-XiMat	blood
33	chr10:99026000-99038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:99026000-99051200	Weak transcription	Primary T cells from cord blood	blood
35	chr10:99026200-99037400	Weak transcription	Primary B cells from cord blood	blood
36	chr10:99026200-99037400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr10:99027600-99046200	Weak transcription	Thymus	Thymus
38	chr10:99027800-99045600	Weak transcription	Fetal Thymus	thymus
39	chr10:99028400-99038200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:99028600-99051200	Weak transcription	Small Intestine	intestine
41	chr10:99028800-99046800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:99029400-99037800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:99030600-99037400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:99030600-99037800	Weak transcription	A549	lung
45	chr10:99030600-99038400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr10:99030800-99037400	Weak transcription	Osteobl	bone
47	chr10:99030800-99037600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr10:99030800-99038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:99031400-99050400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:99034400-99035000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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