Variant report

Variant	nsv587953
Chromosome Location	chr21:47550595-47556809
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:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47537967..47540415-chr21:47549344..47551448,2	MCF-7	breast:
2	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
3	chr21:47552136..47555108-chr21:47567906..47569814,2	K562	blood:
4	chr21:47554448..47556886-chr21:47563451..47566094,3	MCF-7	breast:
5	chr21:47550847..47553027-chr21:47555811..47558227,2	K562	blood:
6	chr21:47551026..47553790-chr21:47731962..47734784,2	K562	blood:
7	chr21:47547417..47550838-chr21:47552668..47556844,4	K562	blood:
8	chr21:47555174..47557308-chr21:47557568..47559143,2	K562	blood:
9	chr21:47390635..47391181-chr21:47555465..47556047,2	MCF-7	breast:
10	chr21:47556297..47557991-chr21:47561271..47563957,3	K562	blood:
11	chr21:47544449..47547894-chr21:47549368..47551933,4	K562	blood:
12	chr21:47555174..47557068-chr21:47557643..47559469,2	K562	blood:
13	chr21:47547743..47554326-chr21:47559264..47565052,9	K562	blood:
14	chr21:47542756..47544736-chr21:47549533..47552490,2	K562	blood:
15	chr21:47545773..47548118-chr21:47549714..47552421,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTCD-4	chr21:47555044-47555257	NONHSAT083019
2	lnc-FTCD-4	chr21:47555352-47555666	NONHSAT083019
3	lnc-FTCD-3	chr21:47556176-47556408	NONHSAT083020

No data

Variant related genes	Relation type
ENSG00000160282	chromatin interactions

Extended variants
information (count: 667 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16978897	chr21:47550595-47550596	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9976171	chr21:47550620-47550621	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564125386	chr21:47550643-47550644	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141850355	chr21:47550657-47550658	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146303986	chr21:47550672-47550673	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148498358	chr21:47550696-47550697	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141902436	chr21:47550698-47550699	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547338934	chr21:47550703-47550704	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193009395	chr21:47550712-47550713	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539209658	chr21:47550718-47550719	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551155871	chr21:47550724-47550725	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2839117	chr21:47550754-47550755	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs150647821	chr21:47550760-47550761	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564007757	chr21:47550761-47550762	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574716200	chr21:47550782-47550783	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536165027	chr21:47550783-47550784	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554132265	chr21:47550801-47550802	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2839118	chr21:47550805-47550806	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs527409169	chr21:47550806-47550807	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs386819408	chr21:47550815-47550816	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116138459	chr21:47550816-47550817	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386819409	chr21:47550817-47550818	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543515765	chr21:47550818-47550819	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535651633	chr21:47550829-47550830	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183654023	chr21:47550834-47550835	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533007899	chr21:47550835-47550836	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2839119	chr21:47550849-47550850	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539649811	chr21:47550900-47550901	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559433527	chr21:47550901-47550902	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2839120	chr21:47550912-47550913	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs551193366	chr21:47550930-47550931	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2839121	chr21:47550931-47550932	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139759203	chr21:47550938-47550939	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549831231	chr21:47550945-47550946	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546399337	chr21:47550973-47550974	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535436924	chr21:47551030-47551031	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186547676	chr21:47551048-47551049	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs71318045	chr21:47551053-47551054	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535839666	chr21:47551070-47551071	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113760186	chr21:47551091-47551092	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540121818	chr21:47551097-47551098	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149835480	chr21:47551108-47551109	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147929234	chr21:47551121-47551122	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560141407	chr21:47551122-47551123	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561580304	chr21:47551125-47551126	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572834256	chr21:47551135-47551136	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140193825	chr21:47551137-47551138	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111355884	chr21:47551158-47551159	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573675979	chr21:47551163-47551164	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2236492	chr21:47551164-47551165	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47530800-47563600	Weak transcription	Right Atrium	heart
2	chr21:47535000-47554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:47535200-47551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:47535200-47552000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:47535200-47552000	Strong transcription	NHLF	lung
6	chr21:47535200-47552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47535200-47552800	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:47535600-47551000	Strong transcription	Fetal Intestine Small	intestine
9	chr21:47538200-47563600	Weak transcription	Brain Anterior Caudate	brain
10	chr21:47542400-47552000	Weak transcription	HSMM	muscle
11	chr21:47542600-47551200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:47542600-47551400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47542600-47552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:47542800-47550600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:47542800-47552400	Strong transcription	NHDF-Ad	bronchial
16	chr21:47543600-47553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:47544000-47553400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:47544200-47553800	Strong transcription	Osteobl	bone
19	chr21:47545000-47556200	Weak transcription	HSMMtube	muscle
20	chr21:47546000-47550800	Enhancers	Fetal Heart	heart
21	chr21:47546200-47556200	Weak transcription	Fetal Lung	lung
22	chr21:47546400-47551400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:47546400-47552000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr21:47546800-47552000	Weak transcription	Esophagus	oesophagus
25	chr21:47547600-47558400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:47547800-47555000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:47548000-47557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:47548000-47563600	Weak transcription	Gastric	stomach
29	chr21:47548200-47555000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:47548200-47557600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:47548600-47550600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:47548600-47550600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr21:47548600-47552000	Weak transcription	Liver	Liver
34	chr21:47548800-47552600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr21:47548800-47553400	Strong transcription	Fetal Stomach	stomach
36	chr21:47549000-47550800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:47549200-47551000	Weak transcription	Lung	lung
38	chr21:47549200-47553000	Weak transcription	NH-A	brain
39	chr21:47549200-47556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:47549400-47551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:47549400-47553000	Weak transcription	Colonic Mucosa	Colon
42	chr21:47549400-47557000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr21:47549400-47557800	Weak transcription	Aorta	Aorta
44	chr21:47549600-47551400	Weak transcription	Fetal Intestine Large	intestine
45	chr21:47549600-47552800	Weak transcription	Colon Smooth Muscle	Colon
46	chr21:47549600-47553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr21:47549600-47553800	Weak transcription	Adipose Nuclei	Adipose
48	chr21:47549600-47555200	Weak transcription	Left Ventricle	heart
49	chr21:47549800-47551000	Active TSS	Spleen	Spleen
50	chr21:47549800-47563600	Weak transcription	Brain Inferior Temporal Lobe	brain

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