Variant report

Variant	nsv1006327
Chromosome Location	chr2:213174996-213209495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
2	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
3	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
4	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:

Extended variants
information (count: 1486 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1486 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55645862	chr2:213174996-213174997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547591058	chr2:213175029-213175030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563073763	chr2:213175052-213175053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570909569	chr2:213175053-213175054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539478528	chr2:213175077-213175078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17418947	chr2:213175079-213175080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575973478	chr2:213175110-213175111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62182640	chr2:213175122-213175123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147353599	chr2:213175199-213175200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139505095	chr2:213175208-213175209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541182774	chr2:213175209-213175210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76886235	chr2:213175229-213175230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562452075	chr2:213175240-213175241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577643469	chr2:213175266-213175267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149725834	chr2:213175284-213175285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116756608	chr2:213175295-213175296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563284098	chr2:213175323-213175324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200942904	chr2:213175335-213175336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56024862	chr2:213175339-213175340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398041476	chr2:213175362-213175363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397870559	chr2:213175364-213175365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56209146	chr2:213175366-213175367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374541452	chr2:213175367-213175368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10190006	chr2:213175368-213175369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370352860	chr2:213175369-213175370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180776759	chr2:213175370-213175371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527922722	chr2:213175372-213175373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547949397	chr2:213175374-213175375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570904854	chr2:213175409-213175410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149876003	chr2:213175417-213175418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114796108	chr2:213175438-213175439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114618019	chr2:213175458-213175459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144179417	chr2:213175504-213175505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372059239	chr2:213175540-213175541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77952213	chr2:213175544-213175545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538617350	chr2:213175580-213175581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529666201	chr2:213175587-213175588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146824649	chr2:213175588-213175589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534542313	chr2:213175593-213175594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57189717	chr2:213175597-213175598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576880409	chr2:213175622-213175623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77211514	chr2:213175706-213175707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77606545	chr2:213175786-213175787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559933992	chr2:213175857-213175858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543512387	chr2:213175876-213175877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532219114	chr2:213175907-213175908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182968889	chr2:213175912-213175913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573701162	chr2:213175927-213175928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114886329	chr2:213175966-213175967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562395944	chr2:213175968-213175969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213175200-213175400	Enhancers	Fetal Heart	heart
3	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
4	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
6	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
7	chr2:213180800-213181400	Enhancers	Aorta	Aorta
8	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
9	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
11	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
12	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
13	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
14	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
15	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
16	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
17	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
18	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
19	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
21	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:213192000-213192400	Enhancers	A549	lung
24	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
25	chr2:213192000-213193000	Enhancers	HepG2	liver
26	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
27	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:213192800-213193200	Enhancers	Fetal Intestine Small	intestine
30	chr2:213192800-213193200	Enhancers	Fetal Stomach	stomach
31	chr2:213193000-213195000	Enhancers	Fetal Lung	lung
32	chr2:213193800-213194600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:213194000-213194600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:213194000-213194800	Enhancers	Brain Anterior Caudate	brain
35	chr2:213194000-213194800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:213194000-213194800	Enhancers	Brain Substantia Nigra	brain
37	chr2:213194200-213195800	Enhancers	Fetal Heart	heart
38	chr2:213194400-213195400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:213194600-213195200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:213194600-213195200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:213194600-213195400	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:213194800-213195000	Enhancers	Brain Angular Gyrus	brain
43	chr2:213194800-213195000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr2:213194800-213195000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:213194800-213195000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr2:213194800-213195000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:213194800-213195200	Enhancers	Adipose Nuclei	Adipose
48	chr2:213194800-213195200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:213194800-213195200	Enhancers	Fetal Kidney	kidney
50	chr2:213194800-213195400	Enhancers	Right Ventricle	heart

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