Variant report

Variant	esv3373092
Chromosome Location	chr21:47785016-47785736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47780961..47782968-chr21:47784601..47787038,2	K562	blood:
2	chr21:47742602..47744763-chr21:47784293..47786047,2	K562	blood:

Variant related genes	Relation type
ENSG00000160299	chromatin interactions
ENSG00000160298	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567013024	chr21:47785020-47785021	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533673519	chr21:47785029-47785030	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538816335	chr21:47785065-47785066	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546619044	chr21:47785092-47785093	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576465204	chr21:47785096-47785097	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537426485	chr21:47785107-47785108	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556088891	chr21:47785118-47785119	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574637492	chr21:47785138-47785139	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542068498	chr21:47785148-47785149	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113284961	chr21:47785158-47785159	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560094291	chr21:47785162-47785163	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572176211	chr21:47785189-47785190	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34847319	chr21:47785232-47785233	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
14	rs11700674	chr21:47785239-47785240	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11702644	chr21:47785252-47785253	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
16	rs78659370	chr21:47785262-47785263	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs79258481	chr21:47785263-47785264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538465402	chr21:47785281-47785282	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs67414613	chr21:47785282-47785283	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs76346486	chr21:47785283-47785284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35287686	chr21:47785284-47785285	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113851050	chr21:47785302-47785303	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
23	rs36017396	chr21:47785303-47785304	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375137750	chr21:47785312-47785313	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79984425	chr21:47785322-47785323	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77882502	chr21:47785323-47785324	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35708813	chr21:47785324-47785325	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs71319740	chr21:47785342-47785343	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530336535	chr21:47785352-47785353	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs34527723	chr21:47785362-47785363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113555916	chr21:47785363-47785364	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112752592	chr21:47785382-47785383	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79402251	chr21:47785383-47785384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566967964	chr21:47785387-47785388	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35984542	chr21:47785412-47785413	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs534111164	chr21:47785414-47785415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77930499	chr21:47785422-47785423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78645193	chr21:47785423-47785424	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34955694	chr21:47785424-47785425	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551881831	chr21:47785426-47785427	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35884845	chr21:47785432-47785433	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs70940598	chr21:47785442-47785443	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547212223	chr21:47785452-47785453	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537490804	chr21:47785460-47785461	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs555752199	chr21:47785462-47785463	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34907325	chr21:47785463-47785464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
47	rs35491932	chr21:47785469-47785470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34709898	chr21:47785472-47785473	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535404445	chr21:47785482-47785483	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34171569	chr21:47785483-47785484	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47746000-47793000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:47746400-47789200	Strong transcription	Fetal Muscle Leg	muscle
3	chr21:47746400-47792000	Weak transcription	Fetal Heart	heart
4	chr21:47746400-47797200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:47747600-47787600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:47754000-47787400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:47754000-47787600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:47754200-47787800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:47763800-47792400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:47764000-47798000	Strong transcription	Fetal Stomach	stomach
11	chr21:47764200-47788000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:47764200-47792400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:47764200-47793200	Strong transcription	Dnd41	blood
14	chr21:47764200-47800200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:47764400-47797000	Strong transcription	Fetal Intestine Small	intestine
16	chr21:47764600-47788600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:47764600-47790400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:47765400-47787600	Strong transcription	Primary T cells from cord blood	blood
19	chr21:47765400-47789600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:47765400-47798400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr21:47765600-47788000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr21:47765600-47788400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:47765600-47788600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:47765600-47788600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr21:47765600-47789000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:47768400-47795600	Weak transcription	Right Atrium	heart
27	chr21:47772200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:47773000-47788400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr21:47774200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
31	chr21:47776800-47787600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr21:47777400-47786400	Weak transcription	Small Intestine	intestine
33	chr21:47778200-47789200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:47779800-47788000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr21:47780400-47788600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:47780600-47789600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:47780600-47791800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:47780600-47793800	Strong transcription	Fetal Brain Female	brain
39	chr21:47780800-47787800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr21:47780800-47788000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr21:47780800-47789200	Strong transcription	Osteobl	bone
42	chr21:47780800-47790000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:47780800-47790200	Strong transcription	HepG2	liver
44	chr21:47780800-47790800	Strong transcription	Lung	lung
45	chr21:47781000-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:47781000-47788800	Strong transcription	Aorta	Aorta
47	chr21:47781000-47790000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:47781000-47790200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:47781000-47792400	Strong transcription	Adipose Nuclei	Adipose
50	chr21:47781000-47792800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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