Variant report

Variant	esv3426278
Chromosome Location	chr2:20665696-20668244
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20664607..20668124-chr2:20695979..20697916,4	MCF-7	breast:
2	chr2:20665733..20672605-chr2:20815236..20823686,12	MCF-7	breast:
3	chr2:20667634..20669481-chr2:20834271..20836611,2	MCF-7	breast:
4	chr2:11681425..11683058-chr2:20665986..20668098,2	MCF-7	breast:
5	chr2:20664677..20667421-chr2:20834049..20837198,4	MCF-7	breast:
6	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
7	chr2:20666244..20668102-chr2:20780641..20782440,2	MCF-7	breast:
8	chr2:20667641..20670204-chr2:20848987..20852678,3	MCF-7	breast:
9	chr2:20667950..20670056-chr2:20708314..20710837,3	MCF-7	breast:
10	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
11	chr2:20664924..20667934-chr2:20777556..20780555,3	MCF-7	breast:
12	chr2:20665586..20667484-chr2:20827548..20829987,2	MCF-7	breast:
13	chr2:20664615..20666200-chr2:20700420..20703314,2	MCF-7	breast:
14	chr2:20664006..20666925-chr2:20834002..20835809,3	MCF-7	breast:
15	chr2:20666502..20669151-chr2:20670471..20672629,2	K562	blood:
16	chr2:20666213..20668504-chr2:20794709..20797277,2	MCF-7	breast:
17	chr1:201543452..201546100-chr2:20667655..20669186,2	MCF-7	breast:
18	chr2:20664203..20670367-chr2:20692234..20698325,8	MCF-7	breast:
19	chr2:20666575..20668936-chr2:20816033..20817943,2	MCF-7	breast:
20	chr2:20665945..20667878-chr2:20818560..20821196,2	MCF-7	breast:
21	chr2:20667122..20669072-chr2:20705071..20707411,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196208	chromatin interactions
ENSG00000227047	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000228950	chromatin interactions
ENSG00000143878	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs342115	chr2:20665721-20665722	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544976665	chr2:20665821-20665822	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147792329	chr2:20665826-20665827	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs141267049	chr2:20665834-20665835	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs146961863	chr2:20665876-20665877	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs563469410	chr2:20665883-20665884	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs13021908	chr2:20665887-20665888	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs542852272	chr2:20665892-20665893	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs342116	chr2:20665896-20665897	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs342117	chr2:20665911-20665912	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151083079	chr2:20665948-20665949	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372156561	chr2:20666051-20666052	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs530552318	chr2:20666089-20666090	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550582447	chr2:20666188-20666189	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs376786938	chr2:20666189-20666190	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs76312252	chr2:20666195-20666196	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs342118	chr2:20666199-20666200	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552983905	chr2:20666207-20666208	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541377132	chr2:20666223-20666224	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538790203	chr2:20666302-20666303	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191750797	chr2:20666353-20666354	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201592449	chr2:20666433-20666434	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs376650167	chr2:20666615-20666616	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs184293811	chr2:20666621-20666622	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs374756458	chr2:20666675-20666676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs199552284	chr2:20666679-20666680	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs200614842	chr2:20666681-20666682	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs201715800	chr2:20666683-20666684	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569235877	chr2:20666733-20666734	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs113626284	chr2:20666890-20666891	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188980298	chr2:20666955-20666956	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530027867	chr2:20666960-20666961	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556925795	chr2:20666965-20666966	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs573842559	chr2:20666968-20666969	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs181666190	chr2:20666969-20666970	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113208995	chr2:20666970-20666971	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573379792	chr2:20666971-20666972	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs545562765	chr2:20666972-20666973	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187236245	chr2:20666982-20666983	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs74987696	chr2:20667004-20667005	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs141047150	chr2:20667035-20667036	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560868867	chr2:20667063-20667064	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs529670541	chr2:20667066-20667067	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs150259830	chr2:20667112-20667113	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs554988762	chr2:20667123-20667124	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs138970164	chr2:20667167-20667168	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs373938503	chr2:20667272-20667273	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs566530694	chr2:20667322-20667323	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs141952061	chr2:20667406-20667407	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552332308	chr2:20667424-20667425	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20653200-20666200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:20653400-20666400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:20653400-20674000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:20656200-20671800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:20657200-20665800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:20660800-20667200	Weak transcription	Lung	lung
7	chr2:20664400-20672400	Weak transcription	Right Atrium	heart
8	chr2:20665200-20666400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:20665400-20665800	Enhancers	Brain Hippocampus Middle	brain
10	chr2:20665400-20666400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:20665400-20666400	Enhancers	Esophagus	oesophagus
12	chr2:20665400-20667600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:20665400-20667600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:20665400-20667600	Enhancers	Pancreas	Pancrea
15	chr2:20665400-20668200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:20665400-20668200	Enhancers	Brain Germinal Matrix	brain
17	chr2:20665400-20668600	Enhancers	Placenta	Placenta
18	chr2:20665400-20669600	Enhancers	Gastric	stomach
19	chr2:20665400-20669800	Enhancers	Stomach Mucosa	stomach
20	chr2:20665400-20670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:20665600-20666200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:20665600-20666400	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:20665600-20666600	Enhancers	Colonic Mucosa	Colon
24	chr2:20665600-20667200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:20665600-20667200	Enhancers	NHEK	skin
26	chr2:20665600-20667600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:20665600-20667600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:20665600-20667600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:20665600-20667600	Enhancers	Hela-S3	cervix
30	chr2:20665600-20667800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:20665600-20667800	Enhancers	Adipose Nuclei	Adipose
32	chr2:20665800-20666400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:20665800-20666400	Enhancers	Colon Smooth Muscle	Colon
34	chr2:20665800-20666600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:20665800-20666600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:20665800-20666600	Enhancers	Spleen	Spleen
37	chr2:20665800-20667000	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:20665800-20667400	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:20665800-20667800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:20665800-20667800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:20665800-20667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:20666000-20666600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:20666000-20666600	Enhancers	Fetal Brain Male	brain
44	chr2:20666000-20666800	Bivalent Enhancer	HepG2	liver
45	chr2:20666000-20667200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:20666000-20667200	Enhancers	Fetal Brain Female	brain
47	chr2:20666000-20667400	Enhancers	HMEC	breast
48	chr2:20666000-20667600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:20666200-20666400	Enhancers	Fetal Kidney	kidney
50	chr2:20666200-20666600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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