Variant report

Variant	nsv587966
Chromosome Location	chr21:47603387-47603953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:47603113-47603416	K562	blood:	n/a	n/a
2	BHLHE40	chr21:47603834-47605107	K562	blood:	n/a	n/a
3	CBX3	chr21:47603261-47605256	K562	blood:	n/a	n/a
4	CCNT2	chr21:47602516-47603574	K562	blood:	n/a	n/a
5	CCNT2	chr21:47603783-47605058	K562	blood:	n/a	n/a
6	CEBPB	chr21:47603263-47603964	K562	blood:	n/a	n/a
7	CEBPD	chr21:47603229-47604112	K562	blood:	n/a	n/a
8	CHD2	chr21:47603938-47605049	GM12878	blood:	n/a	n/a
9	CTCF	chr21:47603580-47603665	GM10248	blood:	n/a	n/a
10	CTCF	chr21:47603670-47603684	GM10248	blood:	n/a	n/a
11	CUX1	chr21:47603946-47604368	K562	blood:	n/a	n/a
12	E2F6	chr21:47603807-47605118	K562	blood:	n/a	n/a
13	EBF1	chr21:47603427-47603861	GM12878	blood:	n/a	n/a
14	EGR1	chr21:47603781-47604213	K562	blood:	n/a	n/a
15	EGR1	chr21:47603176-47603587	K562	blood:	n/a	n/a
16	EGR1	chr21:47603099-47603599	K562	blood:	n/a	chr21:47603156-47603180
17	EGR1	chr21:47603769-47604285	K562	blood:	n/a	n/a
18	EP300	chr21:47603795-47604332	K562	blood:	n/a	chr21:47603999-47604012
19	EP300	chr21:47603146-47603581	K562	blood:	n/a	n/a
20	GABPA	chr21:47603876-47605149	K562	blood:	n/a	n/a
21	GABPA	chr21:47603074-47603630	K562	blood:	n/a	n/a
22	GATA2	chr21:47603217-47603972	K562	blood:	n/a	n/a
23	HCFC1	chr21:47603837-47605091	K562	blood:	n/a	n/a
24	HDAC2	chr21:47603103-47603465	K562	blood:	n/a	chr21:47603157-47603176
25	HEY1	chr21:47603302-47605165	K562	blood:	n/a	n/a
26	HEY1	chr21:47603278-47604691	K562	blood:	n/a	n/a
27	HMGN3	chr21:47602423-47605064	K562	blood:	n/a	chr21:47604973-47604982 chr21:47604970-47604979
28	IRF1	chr21:47603737-47605392	K562	blood:	n/a	n/a
29	IRF1	chr21:47602908-47603426	K562	blood:	n/a	n/a
30	IRF1	chr21:47603878-47605854	K562	blood:	n/a	n/a
31	JUN	chr21:47603763-47606108	K562	blood:	n/a	chr21:47604970-47604982 chr21:47604971-47604980
32	JUND	chr21:47603940-47604073	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr21:47603133-47605414	K562	blood:	n/a	chr21:47604970-47604981 chr21:47604970-47604982 chr21:47604971-47604980
34	KAP1	chr21:47603798-47604391	K562	blood:	n/a	n/a
35	MAX	chr21:47602082-47603530	K562	blood:	n/a	n/a
36	MAX	chr21:47603767-47604438	K562	blood:	n/a	n/a
37	MAX	chr21:47603836-47605246	K562	blood:	n/a	chr21:47604971-47604980
38	MAX	chr21:47603797-47604425	K562	blood:	n/a	n/a
39	MAX	chr21:47603182-47603425	K562	blood:	n/a	n/a
40	MAZ	chr21:47602468-47605254	K562	blood:	n/a	chr21:47604971-47604980
41	MTA3	chr21:47603918-47604349	GM12878	blood:	n/a	n/a
42	MXI1	chr21:47603947-47604439	K562	blood:	n/a	n/a
43	MXI1	chr21:47603784-47605274	IMR90	lung:	n/a	n/a
44	MYC	chr21:47603409-47603414	K562	blood:	n/a	n/a
45	MYC	chr21:47603760-47605410	K562	blood:	n/a	chr21:47604971-47604980
46	MYC	chr21:47603747-47605248	K562	blood:	n/a	chr21:47604971-47604980
47	NFYA	chr21:47603897-47605271	K562	blood:	n/a	n/a
48	NFYB	chr21:47603837-47605189	K562	blood:	n/a	n/a
49	NFYB	chr21:47603918-47605207	GM12878	blood:	n/a	n/a
50	NR2F2	chr21:47602997-47605269	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47563633..47565565-chr21:47603562..47606281,2	K562	blood:
2	chr21:47602452..47604357-chr21:47877079..47880272,3	K562	blood:
3	chr21:47602500..47604164-chr21:47614586..47616622,2	K562	blood:
4	chr21:47568990..47571521-chr21:47602008..47603891,2	K562	blood:
5	chr21:47601203..47604335-chr21:47632751..47634921,3	K562	blood:
6	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
7	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
8	chr21:47602847..47606841-chr21:47742668..47745795,6	K562	blood:
9	chr21:47603167..47605215-chr21:47743246..47745709,3	K562	blood:
10	chr21:47563716..47566123-chr21:47602803..47604796,2	K562	blood:
11	chr21:47571733..47573390-chr21:47601169..47604058,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228404	TF binding region
ENSG00000160282	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000160298	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56293013	chr21:47603413-47603414	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141064018	chr21:47603426-47603427	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs55730748	chr21:47603465-47603466	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs556264500	chr21:47603500-47603501	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs541891340	chr21:47603502-47603503	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs35960150	chr21:47603509-47603510	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs572450358	chr21:47603514-47603515	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs554317959	chr21:47603532-47603533	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs546077816	chr21:47603533-47603534	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs564346349	chr21:47603535-47603536	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs531787297	chr21:47603582-47603583	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs373960010	chr21:47603636-47603637	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs28788544	chr21:47603640-47603641	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs28839323	chr21:47603657-47603658	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs561668170	chr21:47603658-47603659	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs528963626	chr21:47603663-47603664	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs547125191	chr21:47603711-47603712	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs565671441	chr21:47603713-47603714	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs561983002	chr21:47603740-47603741	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs111518696	chr21:47603762-47603763	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs111896877	chr21:47603765-47603766	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs111256218	chr21:47603789-47603790	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs79463386	chr21:47603831-47603832	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs79434313	chr21:47603833-47603834	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs192328596	chr21:47603835-47603836	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs77979899	chr21:47603836-47603837	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs79044044	chr21:47603849-47603850	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
28	rs79674469	chr21:47603851-47603852	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs78690721	chr21:47603854-47603855	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs76817810	chr21:47603867-47603868	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs77451346	chr21:47603869-47603870	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs560736153	chr21:47603871-47603872	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs75940785	chr21:47603872-47603873	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs76059874	chr21:47603882-47603883	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs74350131	chr21:47603885-47603886	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs75265001	chr21:47603887-47603888	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs371304881	chr21:47603888-47603889	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs73144734	chr21:47603893-47603894	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs368123661	chr21:47603921-47603922	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 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:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47573800-47603800	Weak transcription	Right Atrium	heart
2	chr21:47582400-47603800	Weak transcription	Thymus	Thymus
3	chr21:47594200-47603800	Weak transcription	Fetal Intestine Small	intestine
4	chr21:47597200-47603800	Weak transcription	Fetal Brain Female	brain
5	chr21:47598000-47603400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:47598600-47603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:47600200-47603600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr21:47600600-47603400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:47600800-47603800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr21:47601000-47603800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:47601200-47603800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:47601200-47603800	Weak transcription	Colon Smooth Muscle	Colon
13	chr21:47601200-47604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr21:47602000-47603800	Enhancers	Gastric	stomach
15	chr21:47602000-47604000	Enhancers	Spleen	Spleen
16	chr21:47602200-47603600	Enhancers	Brain Anterior Caudate	brain
17	chr21:47602200-47603800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr21:47602400-47603800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:47602400-47604000	Enhancers	Fetal Brain Male	brain
20	chr21:47602600-47603400	Transcr. at gene 5' and 3'	K562	blood
21	chr21:47602600-47603800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47602600-47603800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:47602600-47603800	Enhancers	Fetal Muscle Trunk	muscle
24	chr21:47602800-47603600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:47602800-47603600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr21:47602800-47603600	Enhancers	Ovary	ovary
27	chr21:47602800-47603800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:47602800-47603800	Enhancers	Esophagus	oesophagus
29	chr21:47602800-47603800	Enhancers	Lung	lung
30	chr21:47602800-47603800	Enhancers	Pancreas	Pancrea
31	chr21:47602800-47603800	Enhancers	Right Ventricle	heart
32	chr21:47602800-47603800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr21:47602800-47603800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr21:47602800-47605600	Active TSS	Brain Angular Gyrus	brain
35	chr21:47603000-47603400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:47603000-47603400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:47603000-47603400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:47603000-47603400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr21:47603000-47603400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:47603000-47603400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr21:47603000-47603400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr21:47603000-47603400	Enhancers	Placenta	Placenta
43	chr21:47603000-47603400	Flanking Active TSS	HepG2	liver
44	chr21:47603000-47603600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr21:47603000-47603800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:47603000-47603800	Enhancers	Primary B cells from peripheral blood	blood
47	chr21:47603000-47603800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr21:47603000-47603800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr21:47603000-47603800	Enhancers	Brain Hippocampus Middle	brain
50	chr21:47603000-47603800	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links