Variant report

Variant	esv3314696
Chromosome Location	chr10:43707162-43708095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:43707100-43707250	HRE	kidney:	n/a	n/a
2	E2F6	chr10:43707794-43707948	K562	blood:	n/a	chr10:43707891-43707902 chr10:43707891-43707902 chr10:43707895-43707902 chr10:43707891-43707902 chr10:43707891-43707902 chr10:43707892-43707907 chr10:43707891-43707902
3	EGR1	chr10:43707056-43707326	K562	blood:	n/a	chr10:43707179-43707189 chr10:43707178-43707191 chr10:43707178-43707191 chr10:43707177-43707192 chr10:43707179-43707188 chr10:43707179-43707190 chr10:43707178-43707191 chr10:43707177-43707191
4	MAX	chr10:43707730-43708024	K562	blood:	n/a	chr10:43707881-43707890 chr10:43707881-43707890 chr10:43707882-43707889 chr10:43707880-43707891 chr10:43707880-43707891 chr10:43707880-43707890
5	MAX	chr10:43707792-43707967	K562	blood:	n/a	chr10:43707881-43707890 chr10:43707881-43707890 chr10:43707882-43707889 chr10:43707880-43707891 chr10:43707880-43707891 chr10:43707880-43707890

No.	Distal block	Cell Line	Cell type
1	chr10:43705914..43707657-chr10:43711294..43713443,2	MCF-7	breast:
2	chr10:43705495..43708277-chr10:43710722..43714581,3	K562	blood:
3	chr10:43705829..43707653-chr10:43720065..43721565,2	K562	blood:

Variant related genes	Relation type
RASGEF1A	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187635943	chr10:43707192-43707193	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150416573	chr10:43707194-43707195	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs78863044	chr10:43707247-43707248	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536970072	chr10:43707274-43707275	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555349840	chr10:43707304-43707305	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574011540	chr10:43707334-43707335	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs541056215	chr10:43707348-43707349	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs559842476	chr10:43707385-43707386	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs578144730	chr10:43707413-43707414	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs545474807	chr10:43707486-43707487	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs572770865	chr10:43707542-43707543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs531101693	chr10:43707568-43707569	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs549681013	chr10:43707620-43707621	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs561409702	chr10:43707649-43707650	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs541399239	chr10:43707700-43707701	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs528924381	chr10:43707723-43707724	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs12265842	chr10:43707744-43707745	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17158616	chr10:43707762-43707763	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17158617	chr10:43707763-43707764	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs551033292	chr10:43707774-43707775	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569543089	chr10:43707775-43707776	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190950050	chr10:43707810-43707811	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368155914	chr10:43707829-43707830	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201414796	chr10:43707852-43707853	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573847943	chr10:43707886-43707887	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534869777	chr10:43707912-43707913	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs147338115	chr10:43707938-43707939	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs139326939	chr10:43707945-43707946	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545543861	chr10:43707992-43707993	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563752077	chr10:43708025-43708026	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs543479508	chr10:43708050-43708051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs574520365	chr10:43708089-43708090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43698000-43722800	Weak transcription	Gastric	stomach
2	chr10:43698200-43707400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:43698400-43710800	Weak transcription	Esophagus	oesophagus
4	chr10:43699400-43716800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:43699400-43724600	Weak transcription	Right Atrium	heart
6	chr10:43701200-43707200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:43705800-43708000	Enhancers	Fetal Brain Female	brain
8	chr10:43705800-43708400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:43706000-43707200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:43706000-43708200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43706200-43707200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr10:43706200-43707600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:43706200-43707600	Enhancers	Brain Angular Gyrus	brain
14	chr10:43706200-43707800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:43706200-43708000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:43706200-43708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:43706200-43708200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr10:43706200-43708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr10:43706200-43708200	Enhancers	HMEC	breast
20	chr10:43706400-43707400	Weak transcription	Fetal Brain Male	brain
21	chr10:43706400-43708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:43706400-43708200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:43706600-43708600	Enhancers	Brain Hippocampus Middle	brain
24	chr10:43706800-43707600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:43706800-43707600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:43706800-43708600	Enhancers	Fetal Heart	heart
27	chr10:43706800-43709800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:43706800-43711600	Weak transcription	Spleen	Spleen
29	chr10:43707000-43707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:43707000-43708000	Enhancers	Stomach Smooth Muscle	stomach
31	chr10:43707000-43708000	Enhancers	HSMMtube	muscle
32	chr10:43707000-43708400	Enhancers	Brain Anterior Caudate	brain
33	chr10:43707200-43707400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:43707200-43707600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:43707200-43707600	Enhancers	Brain Germinal Matrix	brain
36	chr10:43707200-43707800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:43707200-43708000	Enhancers	Placenta	Placenta
38	chr10:43707200-43708200	Enhancers	Brain Cingulate Gyrus	brain
39	chr10:43707200-43708200	Enhancers	Fetal Muscle Leg	muscle
40	chr10:43707400-43707800	Enhancers	Colon Smooth Muscle	Colon
41	chr10:43707400-43708200	Enhancers	Brain Substantia Nigra	brain
42	chr10:43707400-43708600	Enhancers	Fetal Brain Male	brain
43	chr10:43707400-43709600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:43707600-43707800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:43707600-43707800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:43707600-43708400	Weak transcription	Brain Germinal Matrix	brain
47	chr10:43707600-43709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:43707600-43709800	Weak transcription	Brain Angular Gyrus	brain
49	chr10:43707800-43708000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr10:43707800-43708400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links