Variant report

Variant	esv3424466
Chromosome Location	chr10:43694496-43697294
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43693302..43696158-chr10:43696913..43699983,3	MCF-7	breast:
2	chr10:43696835..43700131-chr10:43902185..43905182,4	K562	blood:
3	chr10:43696064..43699246-chr10:43901638..43904576,3	K562	blood:
4	chr10:43679135..43682088-chr10:43694226..43696696,2	MCF-7	breast:
5	chr10:43632694..43635237-chr10:43697053..43700182,3	MCF-7	breast:
6	chr10:43682496..43684417-chr10:43696461..43698091,2	K562	blood:
7	chr10:43689923..43692438-chr10:43693060..43695471,2	MCF-7	breast:
8	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
9	chr10:43692827..43695385-chr10:43696281..43699647,3	K562	blood:
10	chr10:43633034..43634988-chr10:43692928..43695424,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273008	chromatin interactions
ENSG00000198915	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000169826	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145841594	chr10:43694496-43694497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377456815	chr10:43694506-43694507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs370870756	chr10:43694507-43694508	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs199993832	chr10:43694524-43694525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183373682	chr10:43694617-43694618	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188782143	chr10:43694657-43694658	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368144575	chr10:43694678-43694679	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs193097001	chr10:43694702-43694703	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543300768	chr10:43694704-43694705	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs368604736	chr10:43694736-43694737	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114019922	chr10:43694760-43694761	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs147824689	chr10:43694784-43694785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs554068354	chr10:43694799-43694800	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs559197353	chr10:43694808-43694809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112570319	chr10:43694898-43694899	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs141289660	chr10:43694923-43694924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs533201017	chr10:43694950-43694951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551738144	chr10:43694972-43694973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs150387348	chr10:43695012-43695013	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs1254964	chr10:43695049-43695050	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs373617588	chr10:43695074-43695075	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549159403	chr10:43695082-43695083	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs185837886	chr10:43695083-43695084	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368852111	chr10:43695100-43695101	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs376128525	chr10:43695105-43695106	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs374472625	chr10:43695106-43695107	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs41301581	chr10:43695112-43695113	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs76306135	chr10:43695113-43695114	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs139262265	chr10:43695145-43695146	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs201765175	chr10:43695193-43695194	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs374403441	chr10:43695208-43695209	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs189494581	chr10:43695235-43695236	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575901432	chr10:43695279-43695280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs138086250	chr10:43695280-43695281	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs555013287	chr10:43695322-43695323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573524937	chr10:43695341-43695342	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs540807592	chr10:43695342-43695343	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs552886057	chr10:43695348-43695349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577857260	chr10:43695482-43695483	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1272142	chr10:43695484-43695485	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191232348	chr10:43695523-43695524	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530769819	chr10:43695524-43695525	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183870080	chr10:43695529-43695530	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116260578	chr10:43695538-43695539	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528722615	chr10:43695539-43695540	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547199632	chr10:43695560-43695561	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149358205	chr10:43695568-43695569	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs41301583	chr10:43695616-43695617	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77077330	chr10:43695662-43695663	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371709436	chr10:43695663-43695664	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43652600-43697200	Weak transcription	Pancreas	Pancrea
2	chr10:43662200-43697600	Weak transcription	NHEK	skin
3	chr10:43674400-43697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:43675600-43700600	Weak transcription	A549	lung
5	chr10:43675800-43697000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:43678800-43696800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr10:43679400-43694800	Weak transcription	Brain Substantia Nigra	brain
8	chr10:43679400-43697400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:43680000-43697600	Weak transcription	NH-A	brain
10	chr10:43682000-43697400	Weak transcription	Liver	Liver
11	chr10:43682600-43697400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:43682600-43697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:43683000-43696000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:43683000-43697000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:43683000-43697200	Weak transcription	Primary B cells from cord blood	blood
16	chr10:43683000-43697400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr10:43683000-43697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:43683000-43697400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:43683200-43697000	Weak transcription	Fetal Brain Male	brain
20	chr10:43683200-43697200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:43683200-43697200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr10:43683400-43695200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr10:43683400-43697000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:43683800-43696600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:43683800-43697000	Weak transcription	Fetal Lung	lung
26	chr10:43684400-43697200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:43684400-43697200	Weak transcription	Ovary	ovary
28	chr10:43684400-43697400	Weak transcription	Primary T cells from cord blood	blood
29	chr10:43686800-43697000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr10:43688600-43697000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr10:43688600-43697800	Weak transcription	Aorta	Aorta
32	chr10:43688800-43696000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:43688800-43697600	Weak transcription	NHLF	lung
34	chr10:43689000-43696800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:43689000-43697800	Weak transcription	HSMM	muscle
36	chr10:43689200-43697200	Weak transcription	Thymus	Thymus
37	chr10:43689200-43697400	Weak transcription	Esophagus	oesophagus
38	chr10:43690000-43696800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:43690000-43697000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr10:43690000-43697400	Weak transcription	Fetal Brain Female	brain
41	chr10:43690400-43696600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:43690400-43696600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:43690400-43696600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:43690600-43695800	Weak transcription	Gastric	stomach
45	chr10:43690600-43696000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:43690600-43696200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:43690600-43696200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:43690600-43696600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr10:43690600-43696800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:43690600-43697400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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