Variant report

Variant	nsv948186
Chromosome Location	chr10:112723969-112725278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:112724389-112724524	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:112724714-112724764	NHBE	bronchial:	n/a
2	chr10:112724714-112724764	PANC-1	pancreas:	n/a
3	chr10:112724714-112724764	HEK293	kidney:	embryo
4	chr10:112724714-112724764	SK-N-SH_RA	brain:	n/a
5	chr10:112724714-112724764	PrEC	prostate:	n/a
6	chr10:112724714-112724764	PFSK-1	brain:	n/a
7	chr10:112724714-112724764	ovcar-3	ovarian:	n/a
8	chr10:112724714-112724764	ProgFib	skin:	n/a
9	chr10:112724714-112724764	HEEpiC	esophagus:	n/a
10	chr10:112724714-112724764	GM12891	blood:	n/a
11	chr10:112724714-112724764	AG09319	gingival:	n/a
12	chr10:112724714-112724764	U87	brain:	n/a
13	chr10:112724714-112724764	GM12892	blood:	n/a
14	chr10:112724714-112724764	SKMC	muscle:	n/a
15	chr10:112724714-112724764	HCT-116	colon:	n/a
16	chr10:112724714-112724764	Jurkat	blood:	n/a
17	chr10:112724714-112724764	SK-N-SH	brain:	n/a
18	chr10:112724714-112724764	T-47D	breast:	n/a
19	chr10:112724714-112724764	CMK	blood:	n/a
20	chr10:112724714-112724764	MCF-7	breast:	n/a
21	chr10:112724714-112724764	HRE	kidney:	n/a
22	chr10:112724714-112724764	SAEC	small airway:	n/a
23	chr10:112724714-112724764	SK-N-MC	brain:	n/a
24	chr10:112724714-112724764	LNCaP	prostate:	n/a
25	chr10:112724714-112724764	AG09309	skin:	n/a
26	chr10:112724714-112724764	K562	blood:	n/a
27	chr10:112724714-112724764	Hela-S3	cervix:	n/a
28	chr10:112724714-112724764	HAEpiC	amniotic membrane:	n/a
29	chr10:112724714-112724764	MCF10A-Er-Src	breast:	n/a
30	chr10:112724714-112724764	HCF	heart:	n/a
31	chr10:112724714-112724764	HUVEC	blood vessel:	n/a
32	chr10:112724714-112724764	Caco-2	colon:	n/a
33	chr10:112724714-112724764	BE2_C	brain:	n/a
34	chr10:112724714-112724764	GM06990	blood:	n/a
35	chr10:112724714-112724764	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:112724714-112724764	AoSMC	blood vessel:	n/a
37	chr10:112724714-112724764	HRCEpiC	kidney:	n/a
38	chr10:112724714-112724764	HNPCEpiC	eye:	n/a
39	chr10:112724714-112724764	ECC-1	luminal epithelium:	n/a
40	chr10:112724714-112724764	AG04449	skin:	fetal
41	chr10:112724714-112724764	H1-hESC	embryonic stem cell:	embryo
42	chr10:112724714-112724764	A549	lung:	n/a
43	chr10:112724714-112724764	AG04450	lung:	fetal
44	chr10:112724714-112724764	RPTEC	kidney:	n/a
45	chr10:112724714-112724764	HL-60	blood:	n/a
46	chr10:112724714-112724764	HMEC	breast:	n/a
47	chr10:112724714-112724764	GM19239	blood:	n/a
48	chr10:112724714-112724764	HepG2	liver:	n/a
49	chr10:112724714-112724764	NB4	blood:	n/a
50	chr10:112724714-112724764	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112677176..112680951-chr10:112720651..112724250,5	K562	blood:

No data

Variant related genes	Relation type
SHOC2	TF binding region
SHOC2	CpG island
ENSG00000108061	chromatin interactions
ENSG00000214413	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188765124	chr10:112723992-112723993	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs397517230	chr10:112724051-112724052	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547869981	chr10:112724075-112724076	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372210369	chr10:112724084-112724085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566047015	chr10:112724092-112724093	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs398124252	chr10:112724116-112724117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs267607048	chr10:112724120-112724121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs397517231	chr10:112724126-112724127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150364514	chr10:112724143-112724144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138055318	chr10:112724193-112724194	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111155217	chr10:112724199-112724200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536611911	chr10:112724286-112724287	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371640183	chr10:112724299-112724300	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs34873443	chr10:112724315-112724316	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs202007232	chr10:112724329-112724330	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201197595	chr10:112724349-112724350	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149084468	chr10:112724448-112724449	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201289608	chr10:112724451-112724452	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147068827	chr10:112724471-112724472	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115713408	chr10:112724479-112724480	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138375593	chr10:112724493-112724494	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143895483	chr10:112724506-112724507	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147251195	chr10:112724524-112724525	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs34081996	chr10:112724573-112724574	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs200015085	chr10:112724726-112724727	Weak transcription Strong transcription Genic enhancers Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs370388274	chr10:112724732-112724733	Weak transcription Strong transcription Genic enhancers Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs200222772	chr10:112724744-112724745	Weak transcription Strong transcription Genic enhancers Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs370351651	chr10:112724834-112724835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368925063	chr10:112724852-112724853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372920657	chr10:112724860-112724861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148282065	chr10:112724899-112724900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141248342	chr10:112724904-112724905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150765025	chr10:112724918-112724919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575668535	chr10:112724922-112724923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543695584	chr10:112724924-112724925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565084039	chr10:112724959-112724960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532291124	chr10:112724972-112724973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567536162	chr10:112724978-112724979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547286782	chr10:112725047-112725048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559854356	chr10:112725058-112725059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573812373	chr10:112725075-112725076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5787878	chr10:112725138-112725139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397752529	chr10:112725140-112725141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397846910	chr10:112725141-112725142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201530673	chr10:112725142-112725143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138043915	chr10:112725156-112725157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548733170	chr10:112725158-112725159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192868415	chr10:112725183-112725184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73343897	chr10:112725259-112725260	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs200831008	chr10:112725261-112725262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:112692400-112724000	Weak transcription	Stomach Mucosa	stomach
3	chr10:112692600-112732400	Weak transcription	Fetal Intestine Large	intestine
4	chr10:112697200-112740200	Weak transcription	Thymus	Thymus
5	chr10:112697200-112745400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:112698000-112724000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
8	chr10:112701200-112726800	Weak transcription	Dnd41	blood
9	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:112703800-112724200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr10:112703800-112725800	Weak transcription	HUVEC	blood vessel
12	chr10:112703800-112729000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:112705800-112725400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:112707200-112724000	Weak transcription	Right Ventricle	heart
16	chr10:112707200-112724200	Weak transcription	Gastric	stomach
17	chr10:112707200-112724400	Weak transcription	Aorta	Aorta
18	chr10:112707200-112725400	Weak transcription	Osteobl	bone
19	chr10:112707200-112726200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:112707200-112732200	Weak transcription	Pancreas	Pancrea
21	chr10:112707200-112732200	Weak transcription	NHEK	skin
22	chr10:112707200-112732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:112707200-112737600	Weak transcription	Psoas Muscle	Psoas
24	chr10:112707200-112738800	Weak transcription	NH-A	brain
25	chr10:112707200-112755000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
27	chr10:112709000-112724400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:112709000-112760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:112710000-112736400	Weak transcription	HSMM	muscle
30	chr10:112711800-112735600	Weak transcription	Fetal Intestine Small	intestine
31	chr10:112712200-112725400	Weak transcription	NHLF	lung
32	chr10:112712200-112732400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:112712600-112724400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:112712600-112726400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:112712600-112732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:112712600-112732400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:112712600-112732400	Weak transcription	Esophagus	oesophagus
38	chr10:112712600-112737200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:112712600-112737600	Weak transcription	HSMMtube	muscle
40	chr10:112712600-112737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:112712600-112751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:112712600-112755000	Weak transcription	Fetal Thymus	thymus
43	chr10:112712800-112736600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:112712800-112738000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:112712800-112751600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:112713200-112724200	Weak transcription	Primary T cells from cord blood	blood
47	chr10:112713200-112727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:112715000-112724200	Weak transcription	Right Atrium	heart
49	chr10:112715200-112724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:112719400-112760800	Weak transcription	Fetal Muscle Leg	muscle

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