Variant report

Variant	esv34981
Chromosome Location	chr2:10341468-10384302
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:72)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:10379961..10381980-chr2:10382595..10386156,4	K562	blood:
2	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
3	chr2:10381249..10383856-chr2:10384765..10387330,3	MCF-7	breast:
4	chr2:10261164..10264100-chr2:10354811..10357552,3	K562	blood:
5	chr2:10383798..10386066-chr2:10388103..10389788,2	K562	blood:
6	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:
7	chr2:10366036..10368819-chr2:10586040..10588858,2	K562	blood:
8	chr2:10347436..10349144-chr2:10352466..10354903,2	K562	blood:
9	chr2:10333815..10336556-chr2:10366578..10368507,2	MCF-7	breast:
10	chr2:10357831..10359607-chr2:10365467..10367215,2	K562	blood:
11	chr2:10332239..10334977-chr2:10351210..10352772,2	K562	blood:
12	chr2:10378618..10381551-chr2:10586923..10589495,3	K562	blood:
13	chr2:10372607..10375030-chr2:10377029..10379105,2	K562	blood:
14	chr2:10379961..10381980-chr2:10382595..10386156,4	K562	blood:
15	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
16	chr2:10364084..10367061-chr2:10372581..10374808,2	K562	blood:
17	chr2:10352602..10354236-chr2:10355542..10357562,2	K562	blood:
18	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:
19	chr2:10363587..10365584-chr2:10371559..10374081,2	K562	blood:
20	chr2:10346566..10348332-chr2:10349003..10351471,2	K562	blood:
21	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:
22	chr2:10363646..10365657-chr2:10382522..10385441,2	K562	blood:
23	chr2:10365290..10368319-chr2:10370625..10373445,3	MCF-7	breast:
24	chr2:10357604..10359556-chr2:10380335..10382932,2	MCF-7	breast:
25	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
26	chr2:10356862..10358929-chr2:10359866..10361666,2	K562	blood:
27	chr2:10347436..10349144-chr2:10352466..10354903,2	K562	blood:
28	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
29	chr2:10372607..10375030-chr2:10377029..10379105,2	K562	blood:
30	chr2:10376539..10378609-chr2:10444548..10446781,3	K562	blood:
31	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
32	chr2:10347041..10349707-chr2:10357445..10360186,3	K562	blood:
33	chr2:10372926..10376124-chr2:10586887..10589530,3	K562	blood:
34	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
35	chr2:10384035..10386738-chr2:10447949..10450152,2	K562	blood:
36	chr2:10347644..10349586-chr2:10352760..10354903,2	K562	blood:
37	chr2:10380576..10383459-chr2:10443654..10445741,2	K562	blood:
38	chr2:10382805..10384733-chr2:10392975..10395237,2	MCF-7	breast:
39	chr2:10347041..10349707-chr2:10357445..10360186,3	K562	blood:
40	chr2:10367576..10370568-chr2:10435265..10436937,2	MCF-7	breast:
41	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
42	chr2:10261164..10264100-chr2:10354811..10357057,2	K562	blood:
43	chr2:10382224..10385160-chr2:10393761..10396666,3	K562	blood:
44	chr2:10346566..10348332-chr2:10349003..10351471,2	K562	blood:
45	chr2:10347644..10349586-chr2:10352760..10354903,2	K562	blood:
46	chr2:10381968..10383865-chr2:10397779..10401214,3	K562	blood:
47	chr2:10331138..10333960-chr2:10340461..10341964,2	K562	blood:
48	chr2:10339278..10341450-chr2:10342848..10344717,2	K562	blood:
49	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
50	chr2:10344349..10346575-chr2:10349485..10351710,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYS1-7	chr2:10341367-10341629	NONHSAT069093

No data

Variant related genes	Relation type
ENSG00000171848	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000206898	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000115756	chromatin interactions
ENSG00000265418	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000272524	chromatin interactions

Extended variants
information (count: 2011 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2011 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2357468	chr2:10341468-10341469	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116008101	chr2:10341503-10341504	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs570139304	chr2:10341507-10341508	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs116360735	chr2:10341520-10341521	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs193079178	chr2:10341636-10341637	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185514282	chr2:10341664-10341665	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113137997	chr2:10341675-10341676	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117269247	chr2:10341676-10341677	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114957121	chr2:10341710-10341711	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374745973	chr2:10341806-10341807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6708387	chr2:10342012-10342013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532139731	chr2:10342120-10342121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189073877	chr2:10342131-10342132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567343880	chr2:10342170-10342171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536586261	chr2:10342266-10342267	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150917098	chr2:10342302-10342303	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140274632	chr2:10342305-10342306	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181520702	chr2:10342312-10342313	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543236256	chr2:10342363-10342364	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374046278	chr2:10342443-10342444	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75233118	chr2:10342536-10342537	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374638796	chr2:10342543-10342544	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185769924	chr2:10342544-10342545	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188625342	chr2:10342546-10342547	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368773024	chr2:10342547-10342548	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180979089	chr2:10342551-10342552	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185949292	chr2:10342575-10342576	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570156609	chr2:10342603-10342604	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531095662	chr2:10342621-10342622	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376048526	chr2:10342631-10342632	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144236765	chr2:10342641-10342642	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567916874	chr2:10342649-10342650	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535338795	chr2:10342693-10342694	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112652813	chr2:10342724-10342725	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147777319	chr2:10342731-10342732	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192471252	chr2:10342798-10342799	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139511375	chr2:10342818-10342819	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113835037	chr2:10342838-10342839	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543175319	chr2:10342866-10342867	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575474069	chr2:10342869-10342870	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555147366	chr2:10342893-10342894	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62127597	chr2:10342962-10342963	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544575937	chr2:10342975-10342976	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144996464	chr2:10343014-10343015	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559632687	chr2:10343024-10343025	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114952901	chr2:10343031-10343032	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545404975	chr2:10343032-10343033	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563737693	chr2:10343046-10343047	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531036251	chr2:10343066-10343067	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75330464	chr2:10343068-10343069	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
4	chr2:10333000-10347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:10335200-10348600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10336800-10344600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:10337200-10342800	Weak transcription	Gastric	stomach
8	chr2:10337200-10349600	Weak transcription	Spleen	Spleen
9	chr2:10337600-10342800	Weak transcription	Fetal Brain Male	brain
10	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:10338800-10342400	Weak transcription	K562	blood
12	chr2:10338800-10344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:10339200-10345400	Weak transcription	Fetal Thymus	thymus
14	chr2:10339200-10345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:10339400-10342400	Weak transcription	Fetal Stomach	stomach
16	chr2:10339400-10342600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:10339400-10343000	Weak transcription	Thymus	Thymus
18	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:10340000-10344000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:10340400-10341800	Enhancers	HepG2	liver
22	chr2:10340400-10344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:10341000-10341800	Enhancers	Fetal Intestine Large	intestine
24	chr2:10341800-10342400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:10341800-10354400	Weak transcription	HepG2	liver
26	chr2:10342200-10342800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:10342200-10348600	Weak transcription	A549	lung
28	chr2:10342400-10342600	Enhancers	Fetal Intestine Large	intestine
29	chr2:10342400-10342800	Enhancers	K562	blood
30	chr2:10342400-10343000	Enhancers	HMEC	breast
31	chr2:10342400-10343600	Enhancers	Fetal Stomach	stomach
32	chr2:10342600-10343000	Enhancers	Left Ventricle	heart
33	chr2:10342600-10343200	Enhancers	Fetal Lung	lung
34	chr2:10342600-10343400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:10342600-10343600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:10342600-10343600	Enhancers	HSMMtube	muscle
37	chr2:10342600-10344200	Enhancers	Fetal Muscle Leg	muscle
38	chr2:10342800-10343000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:10342800-10343000	Enhancers	Gastric	stomach
40	chr2:10342800-10343600	Enhancers	Right Ventricle	heart
41	chr2:10342800-10343600	Enhancers	HSMM	muscle
42	chr2:10342800-10343600	Enhancers	Osteobl	bone
43	chr2:10342800-10344600	Enhancers	Fetal Brain Female	brain
44	chr2:10342800-10345400	Enhancers	Fetal Brain Male	brain
45	chr2:10343000-10343200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:10343000-10343200	Enhancers	NHLF	lung
47	chr2:10343000-10343400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:10343000-10343600	Enhancers	Placenta	Placenta
49	chr2:10343000-10343800	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:10343000-10344600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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