Variant report

Variant	nsv437277
Chromosome Location	chr2:7229170-7246387
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:7237529..7239877-chr2:7241428..7244558,3	K562	blood:
2	chr2:7229093..7231064-chr2:7236083..7237840,2	K562	blood:
3	chr2:7229093..7231064-chr2:7236083..7237840,2	K562	blood:
4	chr2:7237488..7238109-chr2:7811508..7812681,4	K562	blood:
5	chr2:7242154..7244370-chr2:7246741..7248590,2	MCF-7	breast:
6	chr2:7242300..7245803-chr2:7246582..7248917,3	K562	blood:
7	chr2:7237529..7239877-chr2:7241428..7244558,3	K562	blood:
8	chr2:7237416..7237988-chr2:9511188..9511876,2	MCF-7	breast:
9	chr2:7229585..7232246-chr2:7232554..7234108,2	K562	blood:
10	chr2:7229585..7232246-chr2:7232554..7234108,2	K562	blood:
11	chr2:6966176..6966703-chr2:7237030..7237946,2	K562	blood:
12	chr2:7236959..7238040-chr2:7251483..7252448,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230515	chromatin interactions

Extended variants
information (count: 625 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16865919	chr2:7229170-7229171	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs188912778	chr2:7229183-7229184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149078938	chr2:7229247-7229248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193063291	chr2:7229251-7229252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62105864	chr2:7229296-7229297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6431848	chr2:7229301-7229302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182782317	chr2:7229320-7229321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531916008	chr2:7229351-7229352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6431849	chr2:7229369-7229370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs187415952	chr2:7229385-7229386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143121895	chr2:7229422-7229423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547474889	chr2:7229429-7229430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191497996	chr2:7229441-7229442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570660746	chr2:7229444-7229445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72783774	chr2:7229474-7229475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374675643	chr2:7229480-7229481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539855902	chr2:7229485-7229486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538953693	chr2:7229494-7229495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558147730	chr2:7229535-7229536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577976476	chr2:7229563-7229564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533989088	chr2:7229566-7229567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72783777	chr2:7229619-7229620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574090486	chr2:7229626-7229627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73912612	chr2:7229637-7229638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184152887	chr2:7229694-7229695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576294508	chr2:7229724-7229725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61329746	chr2:7229778-7229779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564495326	chr2:7229842-7229843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527277241	chr2:7229844-7229845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372088612	chr2:7229870-7229871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371255396	chr2:7229895-7229896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547119161	chr2:7229910-7229911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561024809	chr2:7229990-7229991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16865920	chr2:7230011-7230012	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs60129244	chr2:7230045-7230046	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370371915	chr2:7230091-7230092	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373379530	chr2:7230102-7230103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16865922	chr2:7230104-7230105	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538891602	chr2:7230117-7230118	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534705392	chr2:7230138-7230139	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565880353	chr2:7230143-7230144	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534188003	chr2:7230144-7230145	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553911322	chr2:7230164-7230165	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574056477	chr2:7230175-7230176	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536368973	chr2:7230199-7230200	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112028840	chr2:7230249-7230250	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75738231	chr2:7230264-7230265	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576233489	chr2:7230271-7230272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558084197	chr2:7230354-7230355	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189422602	chr2:7230367-7230368	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	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
low-grade B-cell lymphoma tumor	18367492	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
2	chr2:7214200-7230000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:7214400-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:7224600-7237400	Weak transcription	Dnd41	blood
5	chr2:7226400-7235600	Weak transcription	Spleen	Spleen
6	chr2:7226400-7237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:7229400-7234000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:7230000-7230800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:7230000-7231200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:7230200-7230600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:7230800-7234000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:7231000-7232200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:7231200-7231400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:7231200-7234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:7232000-7237600	Weak transcription	Ovary	ovary
16	chr2:7232800-7234200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:7233600-7233800	Enhancers	Gastric	stomach
18	chr2:7233600-7235600	Enhancers	Fetal Kidney	kidney
19	chr2:7233800-7236200	Weak transcription	Lung	lung
20	chr2:7233800-7237800	Weak transcription	Gastric	stomach
21	chr2:7234000-7234200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:7234000-7234200	Enhancers	Pancreas	Pancrea
23	chr2:7234000-7234400	Enhancers	Fetal Heart	heart
24	chr2:7234000-7234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:7234000-7234600	Enhancers	Fetal Lung	lung
26	chr2:7234000-7234800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:7234000-7234800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:7234000-7234800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:7234000-7235200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:7234000-7235400	Enhancers	Fetal Intestine Large	intestine
31	chr2:7234200-7234600	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:7234200-7234600	Weak transcription	Pancreas	Pancrea
33	chr2:7234200-7234600	Enhancers	NH-A	brain
34	chr2:7234200-7234800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:7234200-7235000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:7234200-7235000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:7234200-7235200	Bivalent Enhancer	Fetal Stomach	stomach
38	chr2:7234200-7235200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart
40	chr2:7234600-7234800	Enhancers	Colon Smooth Muscle	Colon
41	chr2:7234600-7235000	Weak transcription	Fetal Lung	lung
42	chr2:7234600-7236800	Weak transcription	NH-A	brain
43	chr2:7234600-7237200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:7234600-7237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:7234800-7235400	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:7234800-7236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:7234800-7237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:7234800-7237600	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:7235000-7235200	Enhancers	Fetal Lung	lung

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