Variant report

Variant	esv3494961
Chromosome Location	chr21:46371705-46372156
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
2	chr21:46368229..46374115-chr21:46374495..46378460,7	MCF-7	breast:
3	chr21:46368791..46372085-chr21:46374524..46378071,4	MCF-7	breast:
4	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
5	chr21:46371607..46373687-chr21:46493241..46495203,2	MCF-7	breast:
6	chr21:46366778..46369466-chr21:46371570..46373998,2	MCF-7	breast:
7	chr21:46369016..46372190-chr21:46404293..46406354,3	K562	blood:
8	chr21:46370739..46373198-chr21:46433814..46437051,3	K562	blood:
9	chr21:46370146..46372082-chr21:46548144..46550413,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235374	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000160256	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572354219	chr21:46371731-46371732	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs549353198	chr21:46371751-46371752	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs542869027	chr21:46371753-46371754	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535768587	chr21:46371770-46371771	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548037549	chr21:46371784-46371785	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs566151661	chr21:46371787-46371788	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145725704	chr21:46371788-46371789	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs558015876	chr21:46371869-46371870	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs576602001	chr21:46371870-46371871	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs537474607	chr21:46371893-46371894	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs555775425	chr21:46371940-46371941	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs574052812	chr21:46371945-46371946	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs112074084	chr21:46371952-46371953	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs554510535	chr21:46371958-46371959	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs572993318	chr21:46372008-46372009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs370061654	chr21:46372101-46372102	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs373737456	chr21:46372105-46372106	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs541772707	chr21:46372144-46372145	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs138411846	chr21:46372153-46372154	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Congenital heart defects	20877625	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46360800-46372400	Weak transcription	Aorta	Aorta
2	chr21:46361000-46384200	Weak transcription	Fetal Kidney	kidney
3	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
4	chr21:46361600-46375600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:46361600-46378000	Weak transcription	Stomach Mucosa	stomach
6	chr21:46361600-46378200	Weak transcription	NHDF-Ad	bronchial
7	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:46361800-46372400	Strong transcription	Fetal Brain Female	brain
9	chr21:46362000-46382800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:46362400-46383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:46363000-46382400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:46363200-46373800	Strong transcription	Brain Germinal Matrix	brain
13	chr21:46363400-46373000	Strong transcription	Esophagus	oesophagus
14	chr21:46363400-46377400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:46363600-46378000	Strong transcription	Fetal Intestine Large	intestine
16	chr21:46363600-46378000	Strong transcription	NHLF	lung
17	chr21:46363600-46378600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:46364200-46391400	Strong transcription	Dnd41	blood
19	chr21:46364400-46377200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:46364800-46380400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr21:46365400-46372400	Weak transcription	Brain Angular Gyrus	brain
22	chr21:46365400-46375200	Weak transcription	Fetal Lung	lung
23	chr21:46365600-46372600	Weak transcription	Brain Anterior Caudate	brain
24	chr21:46365600-46378200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:46365800-46373600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:46366200-46374600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:46366200-46375800	Enhancers	Left Ventricle	heart
28	chr21:46366600-46376600	Weak transcription	Osteobl	bone
29	chr21:46367600-46376400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:46367600-46382200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr21:46367800-46375200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:46367800-46377600	Weak transcription	Ovary	ovary
33	chr21:46367800-46378000	Weak transcription	HUVEC	blood vessel
34	chr21:46368000-46373800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr21:46368200-46376200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr21:46368600-46371800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr21:46368800-46380600	Enhancers	Fetal Heart	heart
38	chr21:46368800-46382600	Genic enhancers	Fetal Muscle Leg	muscle
39	chr21:46369000-46383000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr21:46369600-46371800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:46369600-46374200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:46369800-46372400	Weak transcription	Fetal Brain Male	brain
43	chr21:46369800-46377800	Strong transcription	Gastric	stomach
44	chr21:46370000-46372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr21:46370000-46372200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr21:46370000-46376600	Weak transcription	Brain Hippocampus Middle	brain
47	chr21:46370000-46378400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:46370000-46378400	Weak transcription	Brain Substantia Nigra	brain
49	chr21:46370000-46380200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr21:46370000-46384200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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