Variant report

Variant	esv3509162
Chromosome Location	chr21:47407677-47408435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47405747..47408135-chr21:47408185..47410437,2	K562	blood:
2	chr21:47405747..47408135-chr21:47408185..47410527,3	K562	blood:
3	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:
4	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
5	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:
6	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:

Variant related genes	Relation type
ENSG00000142156	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528205558	chr21:47407677-47407678	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542286433	chr21:47407679-47407680	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571193258	chr21:47407680-47407681	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532024122	chr21:47407683-47407684	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201549465	chr21:47407684-47407685	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569174767	chr21:47407700-47407701	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536445624	chr21:47407701-47407702	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554847646	chr21:47407702-47407703	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs66929103	chr21:47407704-47407705	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559323218	chr21:47407707-47407708	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528141497	chr21:47407724-47407725	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs66912886	chr21:47407731-47407732	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187294154	chr21:47407741-47407742	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13047685	chr21:47407748-47407749	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184706765	chr21:47407753-47407754	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567748597	chr21:47407757-47407758	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575345850	chr21:47407774-47407775	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13050593	chr21:47407776-47407777	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530771811	chr21:47407796-47407797	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528398969	chr21:47407800-47407801	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535149501	chr21:47407801-47407802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13047801	chr21:47407817-47407818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567481164	chr21:47407819-47407820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571078285	chr21:47407823-47407824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536624942	chr21:47407842-47407843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546647057	chr21:47407845-47407846	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529059705	chr21:47407846-47407847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370399968	chr21:47407848-47407849	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375259624	chr21:47407917-47407918	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368322771	chr21:47407939-47407940	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538702663	chr21:47407962-47407963	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558673955	chr21:47407985-47407986	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575426762	chr21:47408005-47408006	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553215736	chr21:47408034-47408035	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74197211	chr21:47408057-47408058	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372800724	chr21:47408099-47408100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs67679749	chr21:47408105-47408106	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538086405	chr21:47408112-47408113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74208301	chr21:47408121-47408122	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555222088	chr21:47408123-47408124	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368125571	chr21:47408125-47408126	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188875713	chr21:47408128-47408129	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182153017	chr21:47408129-47408130	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559045258	chr21:47408145-47408146	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572798321	chr21:47408168-47408169	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545122339	chr21:47408170-47408171	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370774401	chr21:47408176-47408177	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565012797	chr21:47408186-47408187	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530707017	chr21:47408191-47408192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71319704	chr21:47408193-47408194	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
4	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47403600-47409600	Weak transcription	Fetal Thymus	thymus
6	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
7	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
9	chr21:47404200-47407800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:47404200-47407800	Strong transcription	Brain Germinal Matrix	brain
11	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr21:47404400-47409600	Weak transcription	Right Atrium	heart
15	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
17	chr21:47404600-47408600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr21:47405000-47407800	Strong transcription	Fetal Lung	lung
19	chr21:47405000-47409200	Weak transcription	Brain Angular Gyrus	brain
20	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
21	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
22	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
30	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:47405600-47413200	Strong transcription	Osteobl	bone
32	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
33	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:47405800-47414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:47406200-47412400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:47406400-47411600	Strong transcription	Adipose Nuclei	Adipose
37	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr21:47406600-47409200	Strong transcription	HSMMtube	muscle
39	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr21:47406800-47410400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr21:47407000-47411600	Weak transcription	Brain Hippocampus Middle	brain
42	chr21:47407000-47414400	Strong transcription	Fetal Intestine Large	intestine
43	chr21:47407400-47407800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr21:47407400-47408800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:47407400-47408800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr21:47407400-47408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:47407400-47410200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:47407400-47410600	Weak transcription	Brain Anterior Caudate	brain
49	chr21:47407400-47411800	Weak transcription	Pancreas	Pancrea
50	chr21:47407400-47413800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links