Variant report

Variant	nsv828698
Chromosome Location	chr2:32293493-32296584
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32290727..32292444-chr2:32293437..32296073,2	MCF-7	breast:
2	chr2:32294649..32296576-chr2:32297962..32299990,3	K562	blood:
3	chr2:32287760..32290675-chr2:32295373..32298097,4	K562	blood:
4	chr2:32294423..32296947-chr2:32389682..32392119,3	K562	blood:
5	chr2:32291390..32294322-chr2:32388476..32391076,2	MCF-7	breast:
6	chr2:32292512..32294326-chr2:32297664..32299959,2	K562	blood:
7	chr2:32286904..32290628-chr2:32293788..32299321,9	MCF-7	breast:
8	chr2:32296316..32299145-chr2:32301569..32303768,2	K562	blood:
9	chr2:32288481..32290380-chr2:32294426..32296430,2	MCF-7	breast:
10	chr2:32296494..32298709-chr2:32308097..32310088,3	K562	blood:
11	chr2:32295719..32297694-chr2:32389118..32390763,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272716	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000021574	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554307464	chr2:32293493-32293494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs574082216	chr2:32293505-32293506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190614238	chr2:32293553-32293554	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13029752	chr2:32293554-32293555	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191961	chr2:32293584-32293585	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374734168	chr2:32293602-32293603	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544105516	chr2:32293612-32293613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527254642	chr2:32293640-32293641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139585672	chr2:32293650-32293651	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34360800	chr2:32293655-32293656	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs183170932	chr2:32293659-32293660	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546435226	chr2:32293750-32293751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560171712	chr2:32293759-32293760	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188705944	chr2:32293815-32293816	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs548926448	chr2:32293819-32293820	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs548560577	chr2:32293820-32293821	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149742165	chr2:32293827-32293828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs193279988	chr2:32293831-32293832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs367677914	chr2:32293835-32293836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531484840	chr2:32293934-32293935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs550306120	chr2:32293962-32293963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557550795	chr2:32293963-32293964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs79244802	chr2:32293964-32293965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79998962	chr2:32293976-32293977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs75338320	chr2:32293977-32293978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs79764718	chr2:32293979-32293980	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs572018665	chr2:32293984-32293985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs534373376	chr2:32294000-32294001	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs114248597	chr2:32294003-32294004	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141439742	chr2:32294031-32294032	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs536369455	chr2:32294062-32294063	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370392645	chr2:32294076-32294077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs549981644	chr2:32294079-32294080	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs576368836	chr2:32294086-32294087	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs545040586	chr2:32294167-32294168	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs564035115	chr2:32294175-32294176	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs567820752	chr2:32294216-32294217	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs577544280	chr2:32294221-32294222	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs185637608	chr2:32294222-32294223	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571320195	chr2:32294236-32294237	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs538252296	chr2:32294239-32294240	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560102505	chr2:32294253-32294254	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs528951092	chr2:32294254-32294255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs56319240	chr2:32294284-32294285	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs548806235	chr2:32294315-32294316	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs562462542	chr2:32294341-32294342	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370637732	chr2:32294342-32294343	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187737849	chr2:32294370-32294371	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551426554	chr2:32294376-32294377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138313852	chr2:32294395-32294396	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32293800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:32289800-32297000	Weak transcription	Psoas Muscle	Psoas
4	chr2:32289800-32298400	Weak transcription	Small Intestine	intestine
5	chr2:32289800-32304000	Weak transcription	Ovary	ovary
6	chr2:32289800-32313800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:32289800-32314600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:32289800-32315800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
10	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
11	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:32290000-32297400	Weak transcription	Osteobl	bone
13	chr2:32290000-32299600	Weak transcription	Thymus	Thymus
14	chr2:32290000-32315800	Weak transcription	Fetal Kidney	kidney
15	chr2:32290000-32315800	Weak transcription	HSMM	muscle
16	chr2:32290000-32316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:32290000-32318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:32290200-32295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:32290200-32313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:32290400-32293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:32290400-32297400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:32290400-32298200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:32290400-32304000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:32290400-32313400	Weak transcription	Fetal Thymus	thymus
26	chr2:32290400-32313800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:32290400-32315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:32290400-32315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:32290400-32315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:32290600-32295200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:32290600-32314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:32290600-32330800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:32290800-32294800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:32290800-32295600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:32290800-32295800	Strong transcription	Fetal Stomach	stomach
38	chr2:32290800-32299000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:32290800-32313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:32290800-32313800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:32290800-32317200	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:32290800-32330200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:32291000-32295200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:32291000-32295600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:32291000-32298400	Weak transcription	Primary T cells from cord blood	blood
46	chr2:32291000-32299000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:32291000-32301600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:32291000-32304200	Weak transcription	GM12878-XiMat	blood
49	chr2:32291000-32314800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:32291000-32330400	Weak transcription	Brain Anterior Caudate	brain

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