Variant report

Variant	esv3327933
Chromosome Location	chr21:47419729-47419900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr21:47419515-47420005	IMR90	lung:	n/a	n/a
2	POLR2A	chr21:47419818-47419847	MCF-7	breast:	n/a	n/a
3	POLR2A	chr21:47419658-47420506	U87	brain:	n/a	n/a
4	POLR2A	chr21:47419548-47420512	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47419697-47419747	AG09319	gingival:	n/a
2	chr21:47419697-47419747	SAEC	small airway:	n/a
3	chr21:47419697-47419747	AG04449	skin:	fetal
4	chr21:47419697-47419747	GM06990	blood:	n/a
5	chr21:47419697-47419747	HRE	kidney:	n/a
6	chr21:47419697-47419747	HL-60	blood:	n/a
7	chr21:47419697-47419747	SK-N-SH_RA	brain:	n/a
8	chr21:47419697-47419747	MCF-7	breast:	n/a
9	chr21:47419697-47419747	GM12892	blood:	n/a
10	chr21:47419697-47419747	H1-hESC	embryonic stem cell:	embryo
11	chr21:47419697-47419747	HNPCEpiC	eye:	n/a
12	chr21:47419697-47419747	HCM	heart:	n/a
13	chr21:47419697-47419747	AoSMC	blood vessel:	n/a
14	chr21:47419697-47419747	NHBE	bronchial:	n/a
15	chr21:47419697-47419747	HAEpiC	amniotic membrane:	n/a
16	chr21:47419697-47419747	Jurkat	blood:	n/a
17	chr21:47419697-47419747	NH-A	brain:	n/a
18	chr21:47419697-47419747	HCT-116	colon:	n/a
19	chr21:47419697-47419747	AG09309	skin:	n/a
20	chr21:47419697-47419747	HEEpiC	esophagus:	n/a
21	chr21:47419697-47419747	GM19239	blood:	n/a
22	chr21:47419697-47419747	K562	blood:	n/a
23	chr21:47419697-47419747	AG10803	skin:	n/a
24	chr21:47419697-47419747	HPAEpiC	pulmonary alveolar:	n/a
25	chr21:47419697-47419747	PrEC	prostate:	n/a
26	chr21:47419697-47419747	HMEC	breast:	n/a
27	chr21:47419697-47419747	Hepatocyte	liver:	n/a
28	chr21:47419697-47419747	SKMC	muscle:	n/a
29	chr21:47419697-47419747	ProgFib	skin:	n/a
30	chr21:47419697-47419747	PFSK-1	brain:	n/a
31	chr21:47419697-47419747	HEK293	kidney:	embryo
32	chr21:47419697-47419747	T-47D	breast:	n/a
33	chr21:47419697-47419747	SK-N-SH	brain:	n/a
34	chr21:47419697-47419747	HCPEpiC	choroid plexus:	n/a
35	chr21:47419697-47419747	IMR90	lung:	fetal
36	chr21:47419697-47419747	NB4	blood:	n/a
37	chr21:47419697-47419747	RPTEC	kidney:	n/a
38	chr21:47419697-47419747	CMK	blood:	n/a
39	chr21:47419697-47419747	U87	brain:	n/a
40	chr21:47419697-47419747	HIPEpiC	eye:	n/a
41	chr21:47419697-47419747	Hela-S3	cervix:	n/a
42	chr21:47419697-47419747	LNCaP	prostate:	n/a
43	chr21:47419697-47419747	HRCEpiC	kidney:	n/a
44	chr21:47419697-47419747	GM12878	blood:	n/a
45	chr21:47419697-47419747	SK-N-MC	brain:	n/a
46	chr21:47419697-47419747	NT2-D1	testis:	n/a
47	chr21:47419697-47419747	BE2_C	brain:	n/a
48	chr21:47419697-47419747	ECC-1	luminal epithelium:	n/a
49	chr21:47419697-47419747	Caco-2	colon:	n/a
50	chr21:47419697-47419747	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46961078..46962785-chr21:47417789..47420284,2	K562	blood:

No data

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island
ENSG00000173638	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141125798	chr21:47419731-47419732	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368886555	chr21:47419747-47419748	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567337377	chr21:47419749-47419750	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73908116	chr21:47419770-47419771	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs8130255	chr21:47419780-47419781	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147235439	chr21:47419787-47419788	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs8126900	chr21:47419794-47419795	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs8131227	chr21:47419804-47419805	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79767796	chr21:47419817-47419818	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs367631213	chr21:47419830-47419831	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73159609	chr21:47419832-47419833	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79982562	chr21:47419835-47419836	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112799154	chr21:47419850-47419851	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191923111	chr21:47419852-47419853	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs386819392	chr21:47419853-47419854	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116867483	chr21:47419854-47419855	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs140498992	chr21:47419855-47419856	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs78135600	chr21:47419859-47419860	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375191397	chr21:47419872-47419873	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs68008545	chr21:47419876-47419877	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563227704	chr21:47419879-47419880	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530833979	chr21:47419885-47419886	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs67900630	chr21:47419886-47419887	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370917101	chr21:47419891-47419892	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373747951	chr21:47419893-47419894	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74198723	chr21:47419896-47419897	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79461716	chr21:47419897-47419898	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
2	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
5	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
14	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
16	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:47408600-47419800	Strong transcription	Brain Germinal Matrix	brain
22	chr21:47409000-47425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:47409200-47425000	Strong transcription	Ovary	ovary
24	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:47410000-47422600	Weak transcription	Liver	Liver
26	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
27	chr21:47412400-47423000	Strong transcription	Colonic Mucosa	Colon
28	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr21:47412600-47422400	Weak transcription	Brain Hippocampus Middle	brain
30	chr21:47412600-47425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr21:47413600-47420200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:47413800-47425200	Strong transcription	NHLF	lung
33	chr21:47414000-47421200	Strong transcription	Spleen	Spleen
34	chr21:47414200-47424800	Strong transcription	Right Ventricle	heart
35	chr21:47414600-47421200	Strong transcription	Placenta	Placenta
36	chr21:47414800-47425200	Strong transcription	Osteobl	bone
37	chr21:47415200-47425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:47415400-47420400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:47415400-47420800	Strong transcription	NHDF-Ad	bronchial
40	chr21:47415400-47422200	Weak transcription	HSMMtube	muscle
41	chr21:47415400-47423400	Weak transcription	HSMM	muscle
42	chr21:47415400-47424600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:47415400-47424600	Strong transcription	Adipose Nuclei	Adipose
44	chr21:47415400-47425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:47415400-47425000	Weak transcription	Brain Anterior Caudate	brain
46	chr21:47415600-47425400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:47415800-47420000	Strong transcription	Fetal Muscle Leg	muscle
48	chr21:47415800-47420200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:47416000-47425400	Strong transcription	Fetal Intestine Small	intestine
50	chr21:47416200-47422800	Strong transcription	Colon Smooth Muscle	Colon

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