Variant report

Variant	esv13406
Chromosome Location	chr1:221803907-221805874
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	chr1:221804697..221805537-chr1:222182197..222182723,2	MCF-7	breast:
2	chr1:221804015..221806371-chr1:221811621..221813998,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545376171	chr1:221803910-221803911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371468003	chr1:221803980-221803981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59383649	chr1:221803989-221803990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187547412	chr1:221804011-221804012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80153279	chr1:221804031-221804032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540428001	chr1:221804061-221804062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147821023	chr1:221804065-221804066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141486026	chr1:221804087-221804088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34015847	chr1:221804097-221804098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550941741	chr1:221804113-221804114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192532791	chr1:221804118-221804119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533400784	chr1:221804119-221804120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143578151	chr1:221804124-221804125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566958935	chr1:221804132-221804133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112355150	chr1:221804162-221804163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183497385	chr1:221804243-221804244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148089043	chr1:221804256-221804257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567806545	chr1:221804308-221804309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538025165	chr1:221804325-221804326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556470999	chr1:221804383-221804384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187942787	chr1:221804413-221804414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141821694	chr1:221804414-221804415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192629857	chr1:221804436-221804437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150224832	chr1:221804483-221804484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539996380	chr1:221804533-221804534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561818478	chr1:221804551-221804552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185013229	chr1:221804608-221804609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370805206	chr1:221804630-221804631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189957366	chr1:221804638-221804639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562788622	chr1:221804642-221804643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181759044	chr1:221804646-221804647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538349378	chr1:221804665-221804666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551760438	chr1:221804697-221804698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566792529	chr1:221804700-221804701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527682035	chr1:221804701-221804702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373908226	chr1:221804747-221804748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549235073	chr1:221804773-221804774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184557785	chr1:221804779-221804780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538062223	chr1:221804780-221804781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549935713	chr1:221804818-221804819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189315014	chr1:221804819-221804820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530405412	chr1:221804827-221804828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554440206	chr1:221804868-221804869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539484952	chr1:221804900-221804901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533760566	chr1:221804905-221804906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80348730	chr1:221804954-221804955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35485522	chr1:221804970-221804971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12057339	chr1:221804973-221804974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534219707	chr1:221804974-221804975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368784662	chr1:221804981-221804982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221802600-221804600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:221803400-221804000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:221803400-221804400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:221803600-221804400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:221803800-221804400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:221803800-221804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:221803800-221806000	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:221804200-221804800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:221804200-221805600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:221804400-221805000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:221804400-221805200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:221804400-221806200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:221804600-221804800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:221804600-221805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:221804600-221805000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:221804600-221805000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:221804600-221805000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:221804600-221805200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:221804600-221805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:221804600-221806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:221804600-221806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:221804600-221806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:221804800-221805000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:221804800-221806000	Enhancers	Fetal Heart	heart
25	chr1:221804800-221807600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:221804800-221807600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:221805200-221805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:221805600-221805800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:221805600-221805800	Enhancers	K562	blood
30	chr1:221805800-221806000	Enhancers	HUES6 Cell Line	embryonic stem cell

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