Variant report

Variant	nsv2607
Chromosome Location	chr2:11381341-11409932
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11374624..11376647-chr2:11381201..11383592,2	MCF-7	breast:
2	chr2:11382499..11384208-chr2:11387400..11389311,2	K562	blood:
3	chr2:11381157..11383383-chr2:11504997..11507708,2	MCF-7	breast:
4	chr2:11394019..11396921-chr2:11397879..11400612,3	MCF-7	breast:
5	chr2:11380163..11381910-chr2:11382008..11384131,2	MCF-7	breast:
6	chr2:11376107..11377665-chr2:11385146..11388088,2	K562	blood:
7	chr2:11380163..11381910-chr2:11382008..11384131,2	MCF-7	breast:
8	chr2:11375000..11377998-chr2:11380925..11383500,2	MCF-7	breast:
9	chr2:11394019..11396921-chr2:11397879..11400612,3	MCF-7	breast:
10	chr2:11390471..11392521-chr2:11397410..11399091,2	MCF-7	breast:
11	chr2:11407368..11409021-chr2:11484083..11485849,2	K562	blood:
12	chr2:11365381..11369172-chr2:11380510..11384403,4	K562	blood:
13	chr2:11405281..11407608-chr2:11412695..11415283,2	K562	blood:
14	chr2:11394169..11396145-chr2:11484229..11486145,2	MCF-7	breast:
15	chr2:11382499..11384208-chr2:11387400..11389311,2	K562	blood:
16	chr2:11390471..11392521-chr2:11397410..11399091,2	MCF-7	breast:
17	chr2:11336489..11338486-chr2:11405089..11406642,2	K562	blood:
18	chr2:11378197..11380031-chr2:11396489..11398532,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PQLC3-2	chr2:11402605-11403266	l_1777_chr2:11402604-11406864_testes
2	lnc-PQLC3-2	chr2:11406634-11406864	l_1777_chr2:11402604-11406864_testes

No data

Variant related genes	Relation type
ENSG00000230952	chromatin interactions
ENSG00000134318	chromatin interactions

Extended variants
information (count: 1080 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559806679	chr2:11381354-11381355	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527356242	chr2:11381368-11381369	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552254033	chr2:11381419-11381420	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139620530	chr2:11381443-11381444	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370816483	chr2:11381452-11381453	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149782971	chr2:11381473-11381474	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550086072	chr2:11381483-11381484	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144671426	chr2:11381497-11381498	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535633563	chr2:11381564-11381565	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553966741	chr2:11381598-11381599	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529439254	chr2:11381604-11381605	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549667066	chr2:11381610-11381611	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs58092863	chr2:11381762-11381763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76874179	chr2:11381763-11381764	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559602836	chr2:11381829-11381830	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558245697	chr2:11381860-11381861	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs58933187	chr2:11381900-11381901	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148542211	chr2:11381928-11381929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543438468	chr2:11381958-11381959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562041184	chr2:11381970-11381971	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75769105	chr2:11381979-11381980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528494714	chr2:11381994-11381995	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541335544	chr2:11382001-11382002	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559645445	chr2:11382029-11382030	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533597340	chr2:11382101-11382102	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs72787623	chr2:11382126-11382127	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564244437	chr2:11382138-11382139	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184269159	chr2:11382200-11382201	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs531314569	chr2:11382322-11382323	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549839269	chr2:11382358-11382359	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs6728627	chr2:11382396-11382397	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs529152685	chr2:11382423-11382424	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565944628	chr2:11382440-11382441	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189265216	chr2:11382510-11382511	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114429039	chr2:11382520-11382521	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569846487	chr2:11382555-11382556	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539652331	chr2:11382566-11382567	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62121448	chr2:11382581-11382582	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs181079499	chr2:11382606-11382607	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570178818	chr2:11382680-11382681	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537038470	chr2:11382707-11382708	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555302925	chr2:11382767-11382768	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573702633	chr2:11382772-11382773	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541298752	chr2:11382793-11382794	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13421887	chr2:11382798-11382799	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1868585	chr2:11382829-11382830	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147724122	chr2:11382832-11382833	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564026021	chr2:11382848-11382849	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs531390600	chr2:11382902-11382903	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555658939	chr2:11382936-11382937	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	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
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
3	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
4	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
6	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
8	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
9	chr2:11354400-11382600	Weak transcription	Ovary	ovary
10	chr2:11354400-11388000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:11359000-11382000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:11360800-11382800	Weak transcription	Spleen	Spleen
15	chr2:11361000-11382000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:11361000-11383800	Weak transcription	Fetal Kidney	kidney
17	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
19	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:11361000-11400200	Weak transcription	Gastric	stomach
21	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
23	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:11364000-11387000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:11364400-11382400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:11364400-11387600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:11364600-11381600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:11365400-11387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:11365600-11383400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:11366000-11382800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:11366000-11391000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:11366600-11390800	Weak transcription	NHLF	lung
38	chr2:11367600-11387000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:11367600-11387000	Weak transcription	Placenta	Placenta
40	chr2:11367600-11388200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:11367800-11387000	Weak transcription	Dnd41	blood
42	chr2:11368200-11387000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:11368400-11381600	Weak transcription	Primary B cells from cord blood	blood
44	chr2:11368400-11394400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:11369600-11382400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:11369600-11388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:11370400-11394200	Weak transcription	Fetal Lung	lung
48	chr2:11372600-11382600	Weak transcription	Primary T cells from cord blood	blood
49	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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