Variant report

Variant	nsv214045
Chromosome Location	chr2:9734039-9742991
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9735508..9738809-chr2:9769718..9772514,3	MCF-7	breast:
2	chr2:9737361..9739506-chr2:9769982..9772140,2	K562	blood:
3	chr2:9729940..9731942-chr2:9735786..9737660,2	MCF-7	breast:
4	chr2:9736847..9738709-chr2:9758595..9761225,2	K562	blood:
5	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:
6	chr2:9731942..9734354-chr2:9738501..9740007,2	K562	blood:
7	chr2:9729625..9733750-chr2:9734391..9737280,4	K562	blood:
8	chr2:9732098..9735111-chr2:9769658..9771887,3	K562	blood:
9	chr2:9730159..9735372-chr2:9781969..9785269,4	K562	blood:
10	chr2:9729206..9731620-chr2:9742153..9744799,2	K562	blood:
11	chr2:9731942..9734354-chr2:9738501..9740007,2	K562	blood:
12	chr2:9733224..9734834-chr2:9768969..9772281,3	MCF-7	breast:
13	chr2:9732505..9736094-chr2:9769784..9772309,4	MCF-7	breast:
14	chr2:9735520..9737713-chr2:9751112..9753286,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134308	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148503227	chr2:9734050-9734051	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377495113	chr2:9734052-9734053	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs60241275	chr2:9734053-9734054	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559700427	chr2:9734056-9734057	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371022884	chr2:9734105-9734106	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34872137	chr2:9734106-9734107	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397870957	chr2:9734128-9734129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs386354819	chr2:9734129-9734130	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73913141	chr2:9734130-9734131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78753055	chr2:9734143-9734144	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77607996	chr2:9734156-9734157	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568660250	chr2:9734164-9734165	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181515853	chr2:9734169-9734170	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185559074	chr2:9734175-9734176	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570928609	chr2:9734229-9734230	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111350058	chr2:9734273-9734274	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11674769	chr2:9734278-9734279	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188416128	chr2:9734326-9734327	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11674777	chr2:9734350-9734351	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555597280	chr2:9734396-9734397	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575466904	chr2:9734454-9734455	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544370267	chr2:9734459-9734460	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557510469	chr2:9734482-9734483	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7567811	chr2:9734502-9734503	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149924416	chr2:9734548-9734549	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147608390	chr2:9734584-9734585	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140539833	chr2:9734636-9734637	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544678447	chr2:9734728-9734729	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144504396	chr2:9734735-9734736	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562372588	chr2:9734748-9734749	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531130016	chr2:9734767-9734768	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs180848400	chr2:9734781-9734782	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551322641	chr2:9734782-9734783	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10495572	chr2:9734859-9734860	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs530508041	chr2:9734889-9734890	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114686226	chr2:9734891-9734892	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547068953	chr2:9734900-9734901	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185061847	chr2:9734921-9734922	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116458725	chr2:9734937-9734938	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555502835	chr2:9735006-9735007	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367881232	chr2:9735088-9735089	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542479335	chr2:9735097-9735098	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375338840	chr2:9735115-9735116	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537736447	chr2:9735157-9735158	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557669426	chr2:9735207-9735208	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577411435	chr2:9735212-9735213	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192469883	chr2:9735224-9735225	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79887699	chr2:9735228-9735229	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149062496	chr2:9735230-9735231	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573669098	chr2:9735231-9735232	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
5	chr2:9719200-9747800	Weak transcription	Lung	lung
6	chr2:9719400-9734800	Weak transcription	Aorta	Aorta
7	chr2:9720400-9734200	Weak transcription	Small Intestine	intestine
8	chr2:9720400-9734800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:9722800-9734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:9723400-9736200	Strong transcription	Dnd41	blood
11	chr2:9723600-9734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:9723600-9735400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:9723800-9739800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:9724200-9734600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:9726000-9734400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:9726000-9734400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:9726000-9734800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:9726000-9734800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:9726000-9739800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:9726400-9734600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:9728200-9734200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:9728200-9734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:9728200-9734600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:9728400-9734600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:9728400-9739400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:9728600-9734800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:9728600-9739200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:9728800-9739200	Weak transcription	Colonic Mucosa	Colon
29	chr2:9729600-9734600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:9729600-9736800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:9729800-9738200	Weak transcription	Thymus	Thymus
32	chr2:9730000-9735200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:9730400-9734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:9730400-9734200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:9730400-9734400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:9730400-9734600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:9730400-9734800	Weak transcription	Right Ventricle	heart
38	chr2:9730400-9735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:9730400-9736600	Weak transcription	HUVEC	blood vessel
40	chr2:9730400-9736800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:9730400-9738400	Weak transcription	Fetal Stomach	stomach
42	chr2:9730600-9734200	Weak transcription	Brain Anterior Caudate	brain
43	chr2:9730600-9734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:9730600-9734200	Weak transcription	NHLF	lung
45	chr2:9730600-9734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:9730600-9735000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:9730600-9738200	Weak transcription	Brain Germinal Matrix	brain
48	chr2:9730800-9734800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:9731000-9734400	Genic enhancers	A549	lung
50	chr2:9731200-9734200	Weak transcription	Primary B cells from peripheral blood	blood

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