Variant report

Variant	esv1812556
Chromosome Location	chr21:16690063-16736368
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16582092..16583222-chr21:16714611..16715771,13	MCF-7	breast:
2	chr21:16582349..16582918-chr21:16714738..16715458,2	MCF-7	breast:
3	chr21:16435820..16438656-chr21:16711726..16715018,5	MCF-7	breast:
4	chr21:16713454..16716441-chr21:16762500..16764229,2	MCF-7	breast:
5	chr21:16377401..16378315-chr21:16714678..16715442,3	MCF-7	breast:
6	chr21:16701999..16704280-chr21:16706515..16709214,3	K562	blood:
7	chr21:16663539..16666081-chr21:16712410..16715629,4	MCF-7	breast:
8	chr21:16714501..16715255-chr21:16742984..16743509,2	MCF-7	breast:
9	chr21:16377401..16378315-chr21:16714678..16715347,3	MCF-7	breast:
10	chr21:16436632..16438927-chr21:16717385..16721623,5	MCF-7	breast:
11	chr21:16575825..16576340-chr21:16714614..16715418,2	MCF-7	breast:
12	chr21:16714657..16715579-chr21:16959040..16959762,3	MCF-7	breast:
13	chr21:16407642..16409317-chr21:16733549..16735698,2	MCF-7	breast:
14	chr21:16437453..16439202-chr21:16715691..16717267,2	MCF-7	breast:
15	chr21:16718523..16720063-chr21:16723879..16725666,2	MCF-7	breast:
16	chr21:16580196..16583993-chr21:16711928..16716549,7	MCF-7	breast:
17	chr21:16504811..16505431-chr21:16714538..16715418,2	MCF-7	breast:
18	chr21:16434967..16437063-chr21:16711446..16713527,2	MCF-7	breast:
19	chr21:16704646..16706338-chr21:16708707..16710210,2	K562	blood:
20	chr21:16545419..16546002-chr21:16714667..16715382,2	MCF-7	breast:
21	chr21:16732191..16734558-chr21:16742882..16744836,2	MCF-7	breast:
22	chr21:16582236..16583265-chr21:16714576..16715556,7	MCF-7	breast:
23	chr21:16582092..16583222-chr21:16714611..16715771,10	MCF-7	breast:
24	chr21:16714657..16715283-chr21:16959040..16959755,2	MCF-7	breast:
25	chr21:16714493..16715731-chr21:16816300..16817254,11	MCF-7	breast:
26	chr21:16545419..16546006-chr21:16714667..16715382,3	MCF-7	breast:
27	chr21:16714779..16715688-chr21:16816321..16817212,3	MCF-7	breast:
28	chr21:16375413..16376190-chr21:16714500..16715307,2	MCF-7	breast:
29	chr21:16701999..16704280-chr21:16706515..16709214,3	K562	blood:
30	chr21:16715385..16717006-chr21:16736563..16738066,2	MCF-7	breast:
31	chr21:16714791..16715731-chr21:16816350..16817232,4	MCF-7	breast:
32	chr21:16718523..16720063-chr21:16723879..16725666,2	MCF-7	breast:
33	chr21:16704646..16706338-chr21:16708707..16710210,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180530	chromatin interactions

Extended variants
information (count: 1698 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1698 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539615774	chr21:16691000-16691001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553545590	chr21:16691016-16691017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185230881	chr21:16691054-16691055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200100062	chr21:16691059-16691060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556018422	chr21:16691060-16691061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573390043	chr21:16691064-16691065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541906998	chr21:16691066-16691067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34435844	chr21:16691082-16691083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143854681	chr21:16691142-16691143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544232942	chr21:16691143-16691144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564345684	chr21:16691147-16691148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542023646	chr21:16691159-16691160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561952783	chr21:16691160-16691161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530631751	chr21:16691223-16691224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528906972	chr21:16691224-16691225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540194246	chr21:16691235-16691236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34114083	chr21:16691304-16691305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372333147	chr21:16691348-16691349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11908909	chr21:16691401-16691402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187878063	chr21:16691419-16691420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548653867	chr21:16691421-16691422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568225063	chr21:16691441-16691442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553938374	chr21:16691454-16691455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377504495	chr21:16691456-16691457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376664423	chr21:16691459-16691460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530764380	chr21:16691461-16691462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192481377	chr21:16691545-16691546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148278772	chr21:16691557-16691558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532496372	chr21:16691564-16691565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552194185	chr21:16691576-16691577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141326711	chr21:16691587-16691588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567046044	chr21:16691604-16691605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556201492	chr21:16691615-16691616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535681333	chr21:16691619-16691620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183764505	chr21:16691682-16691683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187992578	chr21:16691793-16691794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537809602	chr21:16691802-16691803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557773330	chr21:16691812-16691813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577596113	chr21:16691874-16691875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540516338	chr21:16691890-16691891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560225817	chr21:16691898-16691899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566032916	chr21:16691910-16691911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2823233	chr21:16691926-16691927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542457994	chr21:16691928-16691929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561817625	chr21:16691963-16691964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530927313	chr21:16691973-16691974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562530491	chr21:16692008-16692009	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181387634	chr21:16692026-16692027	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150780367	chr21:16692105-16692106	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547233275	chr21:16692148-16692149	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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 myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD
Schizophrenia	23813976	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16691000-16691400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:16691400-16696000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:16692000-16692400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr21:16692400-16692600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr21:16695200-16697800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:16695400-16697600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:16695600-16695800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:16695800-16706400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:16696000-16696200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:16696000-16696200	Enhancers	Left Ventricle	heart
11	chr21:16696000-16696800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:16696000-16697000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:16696000-16697600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:16696200-16698400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:16696400-16697600	Enhancers	Liver	Liver
16	chr21:16696600-16697600	Enhancers	HepG2	liver
17	chr21:16696800-16705400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:16697000-16697400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:16697000-16697400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr21:16697600-16700000	Weak transcription	HepG2	liver
21	chr21:16697600-16706600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:16698400-16698600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:16698400-16699800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:16698400-16700000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:16698600-16698800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:16698800-16699400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:16700000-16700400	Enhancers	Right Atrium	heart
28	chr21:16700000-16700400	Enhancers	HepG2	liver
29	chr21:16700200-16700600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:16704600-16706600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:16705400-16706200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:16705400-16706600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:16705600-16707200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr21:16706000-16706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:16706000-16706600	Enhancers	HSMMtube	muscle
36	chr21:16706000-16707200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr21:16706400-16706800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:16706400-16706800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr21:16706600-16706800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr21:16710400-16714800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:16714800-16715800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:16715000-16715800	Enhancers	HMEC	breast
43	chr21:16715200-16715800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:16715400-16715800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:16715400-16715800	Enhancers	Rectal Smooth Muscle	rectum
46	chr21:16715600-16716000	Enhancers	A549	lung
47	chr21:16717400-16717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:16717800-16720000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:16718400-16720000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:16720000-16721200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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