Variant report

Variant	nsv873931
Chromosome Location	chr2:40869165-40966719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40869635..40872329-chr2:40880298..40882464,2	K562	blood:
2	chr2:40963352..40965233-chr2:40973523..40975129,2	K562	blood:
3	chr2:40896962..40898911-chr2:40928950..40930770,2	MCF-7	breast:
4	chr2:40869635..40872329-chr2:40880298..40882464,2	K562	blood:
5	chr2:40896962..40898911-chr2:40928950..40930770,2	MCF-7	breast:
6	chr2:40868683..40869510-chr2:58548247..58548778,2	MCF-7	breast:
7	chr2:40863344..40866000-chr2:40868912..40871639,2	K562	blood:

Variant related genes	Relation type
ENSG00000233128	chromatin interactions

Extended variants
information (count: 3501 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3501 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4622777	chr2:40869165-40869166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528338577	chr2:40869173-40869174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186562984	chr2:40869174-40869175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564717057	chr2:40869184-40869185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191006455	chr2:40869220-40869221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4280499	chr2:40869239-40869240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs200394029	chr2:40869246-40869247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10551496	chr2:40869249-40869250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150956452	chr2:40869302-40869303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541647238	chr2:40869323-40869324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529772932	chr2:40869348-40869349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548133978	chr2:40869351-40869352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7585837	chr2:40869383-40869384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182670742	chr2:40869415-40869416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575429974	chr2:40869418-40869419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7586031	chr2:40869424-40869425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571857733	chr2:40869444-40869445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539192827	chr2:40869445-40869446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564955262	chr2:40869446-40869447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11124753	chr2:40869470-40869471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368829913	chr2:40869480-40869481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200979503	chr2:40869522-40869523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375838283	chr2:40869523-40869524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386390028	chr2:40869531-40869532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35037446	chr2:40869532-40869533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199826282	chr2:40869533-40869534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188194407	chr2:40869543-40869544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551750695	chr2:40869594-40869595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575667064	chr2:40869597-40869598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542773406	chr2:40869600-40869601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191034557	chr2:40869619-40869620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572930495	chr2:40869629-40869630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540133555	chr2:40869640-40869641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564878207	chr2:40869673-40869674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182615968	chr2:40869699-40869700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139886852	chr2:40869711-40869712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75949718	chr2:40869719-40869720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533469314	chr2:40869720-40869721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562555421	chr2:40869754-40869755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529780271	chr2:40869767-40869768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530359497	chr2:40869774-40869775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548006382	chr2:40869781-40869782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143278975	chr2:40869796-40869797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75787085	chr2:40869826-40869827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552209498	chr2:40869876-40869877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10200947	chr2:40869903-40869904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570360877	chr2:40869961-40869962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78504370	chr2:40870069-40870070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187218965	chr2:40870070-40870071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111762940	chr2:40870084-40870085	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	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
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40864400-40869200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:40867800-40869400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:40868600-40869200	Enhancers	HUVEC	blood vessel
4	chr2:40869000-40871400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:40869200-40869600	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:40869200-40870400	Enhancers	Colon Smooth Muscle	Colon
7	chr2:40871400-40875200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:40875200-40877000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:40876000-40876200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:40876400-40878200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:40877000-40878000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:40878000-40878200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:40878000-40878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:40878200-40878600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:40878200-40878600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:40878600-40879600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:40878600-40879800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:40879800-40880000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:40879800-40880400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:40880000-40882200	Enhancers	NHEK	skin
21	chr2:40880400-40880800	Enhancers	HMEC	breast
22	chr2:40880400-40881200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:40880400-40882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:40880800-40881800	Weak transcription	HMEC	breast
25	chr2:40880800-40883000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:40881000-40881400	Enhancers	NHDF-Ad	bronchial
27	chr2:40881000-40881800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:40881000-40882000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:40881200-40882000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:40881400-40882000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40881600-40882000	Enhancers	Colon Smooth Muscle	Colon
32	chr2:40881800-40882000	Enhancers	HMEC	breast
33	chr2:40882000-40882400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:40882000-40882600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:40882400-40882800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:40882600-40882800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:40891200-40891400	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:40891200-40893600	Enhancers	Colon Smooth Muscle	Colon
39	chr2:40891600-40892600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:40892600-40894200	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:40893000-40893200	Enhancers	Fetal Kidney	kidney
42	chr2:40893200-40895400	Weak transcription	Fetal Kidney	kidney
43	chr2:40893400-40893800	Enhancers	Osteobl	bone
44	chr2:40893400-40894000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:40893400-40894600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:40893600-40893800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:40893600-40894000	Enhancers	HSMMtube	muscle
48	chr2:40893600-40894200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:40893600-40896400	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:40893800-40895400	Weak transcription	Osteobl	bone

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