Variant report

Variant	esv1064466
Chromosome Location	chr21:16403345-16403493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16401518..16403961-chr21:16435811..16437558,2	MCF-7	breast:
2	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
3	chr21:16402301..16404920-chr21:16410116..16411661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2823010	chr21:16403347-16403348	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34691536	chr21:16403348-16403349	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548446395	chr21:16403350-16403351	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560556740	chr21:16403359-16403360	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573376890	chr21:16403360-16403361	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74192297	chr21:16403361-16403362	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4817588	chr21:16403363-16403364	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200286953	chr21:16403368-16403369	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4817589	chr21:16403369-16403370	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4817590	chr21:16403374-16403375	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191702272	chr21:16403381-16403382	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542285190	chr21:16403383-16403384	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561851726	chr21:16403388-16403389	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs8127283	chr21:16403394-16403395	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550874924	chr21:16403399-16403400	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375534968	chr21:16403410-16403411	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74633797	chr21:16403411-16403412	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs8132508	chr21:16403412-16403413	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77574043	chr21:16403413-16403414	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371886764	chr21:16403414-16403415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80275928	chr21:16403419-16403420	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77235048	chr21:16403424-16403425	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369215508	chr21:16403438-16403439	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs8128981	chr21:16403444-16403445	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539030432	chr21:16403453-16403454	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145185320	chr21:16403460-16403461	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111861306	chr21:16403462-16403463	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183609652	chr21:16403464-16403465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs8128994	chr21:16403469-16403470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113832246	chr21:16403474-16403475	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534784263	chr21:16403489-16403490	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs71315800	chr21:16403492-16403493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
4	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
6	chr21:16379600-16414800	Weak transcription	Ovary	ovary
7	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
10	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:16386000-16413200	Weak transcription	K562	blood
13	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:16391200-16404200	Weak transcription	NH-A	brain
16	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:16393800-16404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
19	chr21:16393800-16406800	Weak transcription	Dnd41	blood
20	chr21:16394000-16404400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:16394400-16406200	Weak transcription	HMEC	breast
22	chr21:16395600-16406800	Weak transcription	NHEK	skin
23	chr21:16396400-16406000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:16396400-16406600	Weak transcription	HSMMtube	muscle
25	chr21:16396600-16406200	Weak transcription	NHLF	lung
26	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:16397600-16404000	Weak transcription	GM12878-XiMat	blood
28	chr21:16397600-16406200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:16399400-16403400	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
31	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
32	chr21:16400400-16403400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:16400600-16406200	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:16400600-16409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:16400800-16405800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:16400800-16406000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:16400800-16406200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr21:16400800-16406400	Weak transcription	Fetal Lung	lung
39	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr21:16401200-16411400	Weak transcription	Fetal Kidney	kidney
41	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:16401600-16404400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:16401600-16407200	Strong transcription	HSMM	muscle
44	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
46	chr21:16401800-16403400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:16401800-16403600	Weak transcription	Lung	lung
48	chr21:16401800-16403800	Strong transcription	Primary B cells from cord blood	blood
49	chr21:16401800-16404400	Strong transcription	Fetal Muscle Leg	muscle
50	chr21:16401800-16406000	Weak transcription	Small Intestine	intestine

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