Variant report

Variant	nsv519215
Chromosome Location	chr2:21473751-21502727
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:4)
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	chr2:21454261..21455870-chr2:21482924..21484730,2	K562	blood:
2	chr12:98650231..98653086-chr2:21476515..21478101,2	MCF-7	breast:
3	chr2:21471299..21473190-chr2:21478215..21480683,2	K562	blood:
4	chr2:21476934..21479840-chr2:21484756..21486875,2	MCF-7	breast:
5	chr2:21494228..21496159-chr2:21497954..21499633,2	MCF-7	breast:
6	chr2:21476934..21479840-chr2:21484756..21486875,2	MCF-7	breast:
7	chr2:21472326..21475303-chr2:21475432..21477439,2	MCF-7	breast:
8	chr2:21472326..21475303-chr2:21475432..21477439,2	MCF-7	breast:
9	chr2:21466677..21468249-chr2:21482318..21484176,2	K562	blood:
10	chr2:21494228..21496159-chr2:21497954..21499633,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010872.2.1-8	chr2:21479272-21479593	l_1790_chr2:21472827-21479593_testes
2	lnc-AC010872.2.1-8	chr2:21479272-21479551	NONHSAT069489
3	lnc-AC010872.2.1-8	chr2:21479272-21479551	NONHSAT069488
4	lnc-AC010872.2.1-4	chr2:21486565-21486958	ENSG00000233005

No data

Extended variants
information (count: 1111 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1111 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10197693	chr2:21473751-21473752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550921155	chr2:21473780-21473781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143313118	chr2:21473804-21473805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575915924	chr2:21473840-21473841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10197800	chr2:21473856-21473857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs186886269	chr2:21473867-21473868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74888929	chr2:21473897-21473898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534817069	chr2:21473923-21473924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529315564	chr2:21473934-21473935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114122850	chr2:21473949-21473950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10197924	chr2:21473950-21473951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79629888	chr2:21473969-21473970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531458055	chr2:21474014-21474015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557266954	chr2:21474105-21474106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534565141	chr2:21474161-21474162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10168689	chr2:21474162-21474163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72898444	chr2:21474181-21474182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564979696	chr2:21474190-21474191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376040105	chr2:21474212-21474213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563932117	chr2:21474247-21474248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150297544	chr2:21474265-21474266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60330411	chr2:21474269-21474270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192585367	chr2:21474312-21474313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148325538	chr2:21474326-21474327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113349217	chr2:21474349-21474350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374048657	chr2:21474354-21474355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564969291	chr2:21474357-21474358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575344025	chr2:21474364-21474365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544214563	chr2:21474365-21474366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112428881	chr2:21474418-21474419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115909838	chr2:21474439-21474440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150144638	chr2:21474440-21474441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs312046	chr2:21474487-21474488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532304307	chr2:21474491-21474492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551613587	chr2:21474504-21474505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs312047	chr2:21474602-21474603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79634411	chr2:21474610-21474611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138629000	chr2:21474614-21474615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189705589	chr2:21474641-21474642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536560717	chr2:21474689-21474690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193148357	chr2:21474710-21474711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72898445	chr2:21474731-21474732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141882625	chr2:21474752-21474753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558408002	chr2:21474759-21474760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537022843	chr2:21474779-21474780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184367901	chr2:21474812-21474813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575404436	chr2:21474853-21474854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544274463	chr2:21474872-21474873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146178206	chr2:21474897-21474898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368327529	chr2:21474906-21474907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21462200-21480800	Weak transcription	Aorta	Aorta
2	chr2:21471800-21475000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:21472600-21473800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:21472600-21473800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:21473200-21474200	Enhancers	Brain Substantia Nigra	brain
6	chr2:21473200-21488800	Enhancers	Brain Hippocampus Middle	brain
7	chr2:21473400-21474600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:21473400-21474800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:21473400-21475000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:21473600-21474000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:21473600-21474000	Enhancers	Brain Anterior Caudate	brain
12	chr2:21473600-21474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:21473600-21475000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:21473600-21476200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:21473600-21487400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:21473800-21474000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:21473800-21474800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:21473800-21474800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:21473800-21475200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:21473800-21478000	Enhancers	Brain Germinal Matrix	brain
21	chr2:21474000-21476000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:21474000-21477200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:21474200-21474600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:21474200-21474600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:21474200-21474800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:21474200-21475000	Enhancers	Fetal Intestine Small	intestine
27	chr2:21474200-21476000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:21474400-21474800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:21474400-21474800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:21474400-21475000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:21474400-21475000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:21474400-21475200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:21474400-21475200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:21474600-21474800	Enhancers	Brain Substantia Nigra	brain
35	chr2:21474600-21475200	Enhancers	Adipose Nuclei	Adipose
36	chr2:21474600-21478000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:21474600-21478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:21474800-21475800	Weak transcription	Brain Substantia Nigra	brain
39	chr2:21474800-21477800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:21475000-21476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:21475000-21476400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:21475000-21478800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:21475000-21479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:21475200-21476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:21475200-21478000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:21475200-21481000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:21475200-21484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:21475800-21478800	Enhancers	Brain Substantia Nigra	brain
49	chr2:21475800-21481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:21476000-21476200	Enhancers	K562	blood

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