Variant report

Variant	esv34551
Chromosome Location	chr10:58893093-58948207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:58887742..58890502-chr10:58913371..58916213,2	MCF-7	breast:

Extended variants
information (count: 1997 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1997 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11005656	chr10:58893093-58893094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145669820	chr10:58893106-58893107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569591787	chr10:58893132-58893133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534806971	chr10:58893145-58893146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540123674	chr10:58893150-58893151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112396173	chr10:58893153-58893154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193150880	chr10:58893154-58893155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369856391	chr10:58893158-58893159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138323228	chr10:58893172-58893173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs118114257	chr10:58893181-58893182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76885533	chr10:58893196-58893197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117023962	chr10:58893214-58893215	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs118062323	chr10:58893222-58893223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs185250109	chr10:58893293-58893294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs143192809	chr10:58893341-58893342	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs369485278	chr10:58893373-58893374	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs528477508	chr10:58893374-58893375	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs138282229	chr10:58893446-58893447	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373717951	chr10:58893474-58893475	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11005657	chr10:58893483-58893484	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs3105355	chr10:58893507-58893508	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138636808	chr10:58893528-58893529	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80236333	chr10:58893539-58893540	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150553068	chr10:58893542-58893543	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565786765	chr10:58893551-58893552	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567113084	chr10:58893575-58893576	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144635406	chr10:58893601-58893602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190126887	chr10:58893617-58893618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139631495	chr10:58893637-58893638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78742744	chr10:58893695-58893696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192870125	chr10:58893762-58893763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12246965	chr10:58893779-58893780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375698940	chr10:58893823-58893824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113679769	chr10:58893871-58893872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188123282	chr10:58893872-58893873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180888797	chr10:58893892-58893893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143642533	chr10:58893955-58893956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540288681	chr10:58893960-58893961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370055753	chr10:58893971-58893972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573396066	chr10:58894034-58894035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562039742	chr10:58894041-58894042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147165038	chr10:58894060-58894061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140439482	chr10:58894063-58894064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3105354	chr10:58894080-58894081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559993399	chr10:58894094-58894095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75443174	chr10:58894187-58894188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117551886	chr10:58894207-58894208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3105353	chr10:58894273-58894274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531321191	chr10:58894279-58894280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148662288	chr10:58894315-58894316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58886600-58897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:58893000-58893200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:58893000-58894400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:58893200-58893400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:58893200-58893400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr10:58893200-58893600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr10:58893200-58893600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr10:58893200-58893600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:58893200-58894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:58894400-58894600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:58895400-58895800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:58897200-58898000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:58898000-58899000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:58899000-58899800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:58899800-58902000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:58902000-58902800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:58902000-58903600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:58902400-58903400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:58902600-58903400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr10:58902800-58903200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:58903200-58903400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr10:58903200-58903400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:58903600-58906800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:58906800-58907200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:58907200-58907400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:58907400-58907800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:58921200-58921400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr10:58921200-58923200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:58921400-58923000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:58923000-58923200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr10:58923200-58924400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:58923400-58925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:58924400-58924600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr10:58924800-58926200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr10:58925000-58925600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:58925000-58925800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr10:58925000-58926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:58925200-58925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:58925400-58925600	ZNF genes & repeats	Lung	lung
40	chr10:58925400-58925800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:58925400-58926000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:58925600-58926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:58925800-58926600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:58926000-58926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:58926400-58927200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:58926600-58927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr10:58927200-58928200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:58927800-58928800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr10:58928200-58929000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:58930200-58959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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