Variant report

Variant	nsv587927
Chromosome Location	chr21:47389144-47393268
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	chr21:47389198..47390888-chr21:47465741..47468426,2	K562	blood:
2	chr21:47387372..47388982-chr21:47392168..47393871,2	MCF-7	breast:
3	chr21:47390651..47391646-chr21:47745274..47746230,2	MCF-7	breast:
4	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:
5	chr21:47391035..47393326-chr21:47704879..47707195,2	MCF-7	breast:
6	chr21:47390294..47391149-chr21:47517550..47518205,2	MCF-7	breast:
7	chr21:47389572..47393249-chr21:47393676..47397258,4	K562	blood:
8	chr21:47388213..47390098-chr21:47396842..47399384,2	MCF-7	breast:
9	chr21:47390231..47390753-chr21:47630052..47630891,2	MCF-7	breast:
10	chr21:47390319..47391231-chr21:47563516..47564070,2	MCF-7	breast:
11	chr21:47393227..47394175-chr21:47566798..47568083,5	MCF-7	breast:
12	chr21:47393160..47394496-chr21:47517520..47518577,7	MCF-7	breast:
13	chr21:47393205..47395473-chr21:47397498..47399697,5	K562	blood:
14	chr21:47390635..47391181-chr21:47555465..47556047,2	MCF-7	breast:
15	chr21:47342692..47343850-chr21:47390349..47391235,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-1	chr21:47392863-47393090	XLOC_013986
2	lnc-COL6A1-1	chr21:47392884-47393090	NR_109931
3	lnc-COL6A1-1	chr21:47392727-47393090	XLOC_013986

No data

Variant related genes	Relation type
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000142173	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563437017	chr21:47389188-47389189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551686272	chr21:47389290-47389291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569490806	chr21:47389295-47389296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2026285	chr21:47389330-47389331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201289706	chr21:47389406-47389407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548778464	chr21:47389407-47389408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568173007	chr21:47389410-47389411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535992416	chr21:47389489-47389490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573147157	chr21:47389685-47389686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566101085	chr21:47389756-47389757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373862289	chr21:47389757-47389758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187278847	chr21:47389815-47389816	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191724193	chr21:47389836-47389837	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145223446	chr21:47389837-47389838	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542257200	chr21:47389863-47389864	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367639507	chr21:47389914-47389915	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148773502	chr21:47389951-47389952	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2065336	chr21:47389993-47389994	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2026286	chr21:47390001-47390002	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs546867006	chr21:47390004-47390005	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541158350	chr21:47390014-47390015	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114822736	chr21:47390032-47390033	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532969883	chr21:47390038-47390039	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184714397	chr21:47390047-47390048	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544696662	chr21:47390070-47390071	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78221046	chr21:47390121-47390122	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530719610	chr21:47390148-47390149	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189806432	chr21:47390163-47390164	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73374735	chr21:47390167-47390168	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs118087010	chr21:47390239-47390240	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11908797	chr21:47390274-47390275	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs578118867	chr21:47390285-47390286	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs8134464	chr21:47390293-47390294	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539785354	chr21:47390361-47390362	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558192595	chr21:47390380-47390381	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs8127123	chr21:47390425-47390426	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117692002	chr21:47390438-47390439	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11700474	chr21:47390448-47390449	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555983964	chr21:47390456-47390457	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10432966	chr21:47390475-47390476	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534396981	chr21:47390482-47390483	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370026679	chr21:47390489-47390490	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553002288	chr21:47390508-47390509	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577675352	chr21:47390509-47390510	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142387029	chr21:47390532-47390533	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575178570	chr21:47390574-47390575	Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77739282	chr21:47390619-47390620	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560728458	chr21:47390689-47390690	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182432627	chr21:47390715-47390716	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs151332478	chr21:47390747-47390748	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	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:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47379800-47392000	Weak transcription	Right Atrium	heart
2	chr21:47383600-47390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:47385000-47390000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:47385400-47389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:47385800-47390400	Weak transcription	Liver	Liver
6	chr21:47386000-47390000	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:47386000-47390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:47387200-47390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:47389800-47390200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47389800-47390800	Enhancers	Fetal Stomach	stomach
11	chr21:47390000-47390200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr21:47390000-47390200	Enhancers	Fetal Muscle Trunk	muscle
13	chr21:47390000-47390400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:47390000-47390600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:47390000-47391200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:47390000-47392000	Enhancers	Placenta	Placenta
17	chr21:47390000-47392400	Enhancers	Fetal Muscle Leg	muscle
18	chr21:47390200-47390400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr21:47390200-47390400	Enhancers	Stomach Smooth Muscle	stomach
20	chr21:47390200-47390400	Bivalent Enhancer	HepG2	liver
21	chr21:47390200-47390600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:47390200-47391000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:47390200-47391400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:47390200-47391400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:47390200-47391400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr21:47390200-47391600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr21:47390200-47392000	Enhancers	Colon Smooth Muscle	Colon
28	chr21:47390200-47392000	Enhancers	Rectal Smooth Muscle	rectum
29	chr21:47390200-47392200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr21:47390200-47393400	Enhancers	Fetal Lung	lung
31	chr21:47390200-47393800	Enhancers	Fetal Heart	heart
32	chr21:47390400-47390600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr21:47390400-47390600	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr21:47390400-47390600	Enhancers	Esophagus	oesophagus
35	chr21:47390400-47390800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr21:47390400-47390800	Enhancers	Pancreas	Pancrea
37	chr21:47390400-47390800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr21:47390400-47390800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr21:47390400-47391000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:47390400-47391000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:47390400-47391000	Enhancers	Liver	Liver
42	chr21:47390400-47391000	Enhancers	Right Ventricle	heart
43	chr21:47390400-47391200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:47390400-47391200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr21:47390400-47391400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:47390400-47391400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:47390400-47391400	Enhancers	Fetal Brain Male	brain
48	chr21:47390400-47391600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr21:47390400-47392000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr21:47390400-47392000	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links