Variant report

Variant	nsv588001
Chromosome Location	chr21:47966504-47986001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:122)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:47971730-47971895	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr21:47984475-47984548	K562	blood:	n/a	n/a
3	BHLHE40	chr21:47979787-47979972	HepG2	liver:	n/a	n/a
4	BHLHE40	chr21:47979309-47979386	GM12878	blood:	n/a	n/a
5	BHLHE40	chr21:47974833-47975086	K562	blood:	n/a	n/a
6	BHLHE40	chr21:47983229-47983425	K562	blood:	n/a	n/a
7	BRCA1	chr21:47968213-47968319	GM12878	blood:	n/a	n/a
8	CTCF	chr21:47971681-47971795	MCF-7	breast:	n/a	n/a
9	CTCF	chr21:47977506-47977576	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr21:47971700-47971850	HL-60	blood:	n/a	n/a
11	CTCF	chr21:47971620-47971770	GM12864	blood:	n/a	n/a
12	CTCF	chr21:47971679-47971802	MCF-7	breast:	n/a	n/a
13	CTCF	chr21:47971720-47971870	GM06990	blood:	n/a	n/a
14	CTCF	chr21:47971640-47971790	GM12864	blood:	n/a	n/a
15	CTCF	chr21:47971641-47971847	MCF-7	breast:	n/a	n/a
16	CTCF	chr21:47971680-47971830	GM12871	blood:	n/a	n/a
17	CTCF	chr21:47971620-47971770	HepG2	liver:	n/a	n/a
18	CTCF	chr21:47971681-47971836	GM13977	blood:	n/a	n/a
19	CTCF	chr21:47971613-47971810	Lung_OC	lung:	n/a	n/a
20	CTCF	chr21:47971620-47971770	GM12866	blood:	n/a	n/a
21	CTCF	chr21:47971660-47971810	GM12875	blood:	n/a	n/a
22	CTCF	chr21:47971599-47971880	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr21:47971660-47971810	NB4	blood:	n/a	n/a
24	CTCF	chr21:47971660-47971810	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr21:47971560-47971710	GM12870	blood:	n/a	n/a
26	CTCF	chr21:47971640-47971790	GM06990	blood:	n/a	n/a
27	CTCF	chr21:47971680-47971830	HEK293	kidney:	n/a	n/a
28	CTCF	chr21:47971680-47971830	GM12873	blood:	n/a	n/a
29	CTCF	chr21:47971660-47971910	GM12864	blood:	n/a	n/a
30	CTCF	chr21:47974900-47975050	HepG2	liver:	n/a	chr21:47974967-47974985 chr21:47974989-47974998 chr21:47974985-47974998
31	CTCF	chr21:47971642-47971799	GM10248	blood:	n/a	n/a
32	CTCF	chr21:47971589-47971888	GM12891	blood:	n/a	n/a
33	CTCF	chr21:47971622-47971822	GM12878	blood:	n/a	n/a
34	CTCF	chr21:47971629-47971847	MCF-7	breast:	n/a	n/a
35	CTCF	chr21:47971676-47971792	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr21:47971640-47971790	GM12874	blood:	n/a	n/a
37	CTCF	chr21:47980700-47980850	HepG2	liver:	n/a	n/a
38	CTCF	chr21:47971657-47971828	MCF-7	breast:	n/a	n/a
39	CTCF	chr21:47971708-47971734	GM12878	blood:	n/a	n/a
40	CTCF	chr21:47971570-47971909	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr21:47971700-47971850	MCF-7	breast:	n/a	n/a
42	CTCF	chr21:47971740-47971890	GM12870	blood:	n/a	n/a
43	CTCF	chr21:47971740-47971890	GM12871	blood:	n/a	n/a
44	CTCF	chr21:47971724-47971809	GM12892	blood:	n/a	n/a
45	CTCF	chr21:47971660-47971810	GM12873	blood:	n/a	n/a
46	CTCF	chr21:47971760-47971910	GM12867	blood:	n/a	n/a
47	CTCF	chr21:47971700-47971850	GM12866	blood:	n/a	n/a
48	CTCF	chr21:47971625-47971812	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr21:47971660-47971810	GM12867	blood:	n/a	n/a
50	CTCF	chr21:47971622-47971853	GM19239	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47966967-47967017	ECC-1	luminal epithelium:	n/a
2	chr21:47966967-47967017	AG09309	skin:	n/a
3	chr21:47969887-47969937	HAEpiC	amniotic membrane:	n/a
4	chr21:47966967-47967017	CMK	blood:	n/a
5	chr21:47966967-47967017	HCM	heart:	n/a
6	chr21:47966967-47967017	K562	blood:	n/a
7	chr21:47966967-47967017	HepG2	liver:	n/a
8	chr21:47966967-47967017	GM12892	blood:	n/a
9	chr21:47966967-47967017	BE2_C	brain:	n/a
10	chr21:47969887-47969937	GM19239	blood:	n/a
11	chr21:47969887-47969937	LNCaP	prostate:	n/a
12	chr21:47966967-47967017	HRCEpiC	kidney:	n/a
13	chr21:47969887-47969937	CMK	blood:	n/a
14	chr21:47966967-47967017	AoSMC	blood vessel:	n/a
15	chr21:47969887-47969937	MCF10A-Er-Src	breast:	n/a
16	chr21:47966967-47967017	PFSK-1	brain:	n/a
17	chr21:47966967-47967017	MCF-7	breast:	n/a
18	chr21:47969887-47969937	AG04450	lung:	fetal
19	chr21:47969887-47969937	PFSK-1	brain:	n/a
20	chr21:47966967-47967017	LNCaP	prostate:	n/a
21	chr21:47966967-47967017	HCF	heart:	n/a
22	chr21:47966967-47967017	MCF10A-Er-Src	breast:	n/a
23	chr21:47969887-47969937	GM12878	blood:	n/a
24	chr21:47966967-47967017	Hepatocyte	liver:	n/a
25	chr21:47969887-47969937	Caco-2	colon:	n/a
26	chr21:47969887-47969937	K562	blood:	n/a
27	chr21:47966967-47967017	SKMC	muscle:	n/a
28	chr21:47966967-47967017	AG04449	skin:	fetal
29	chr21:47969887-47969937	ECC-1	luminal epithelium:	n/a
30	chr21:47966967-47967017	H1-hESC	embryonic stem cell:	embryo
31	chr21:47969887-47969937	AoSMC	blood vessel:	n/a
32	chr21:47966967-47967017	T-47D	breast:	n/a
33	chr21:47969887-47969937	MCF-7	breast:	n/a
34	chr21:47966967-47967017	NHBE	bronchial:	n/a
35	chr21:47966967-47967017	Jurkat	blood:	n/a
36	chr21:47966967-47967017	HRE	kidney:	n/a
37	chr21:47969887-47969937	HIPEpiC	eye:	n/a
38	chr21:47966967-47967017	HUVEC	blood vessel:	n/a
39	chr21:47966967-47967017	HRPEpiC	eye:	n/a
40	chr21:47969887-47969937	RPTEC	kidney:	n/a
41	chr21:47966967-47967017	ProgFib	skin:	n/a
42	chr21:47966967-47967017	NHDF-neo	bronchial:	n/a
43	chr21:47969887-47969937	HEK293	kidney:	embryo
44	chr21:47966967-47967017	PANC-1	pancreas:	n/a
45	chr21:47969887-47969937	NHBE	bronchial:	n/a
46	chr21:47966967-47967017	HCPEpiC	choroid plexus:	n/a
47	chr21:47966967-47967017	HPAEpiC	pulmonary alveolar:	n/a
48	chr21:47969887-47969937	HCT-116	colon:	n/a
49	chr21:47969887-47969937	HEEpiC	esophagus:	n/a
50	chr21:47969887-47969937	ovcar-3	ovarian:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47877021..47880570-chr21:47984512..47987705,4	K562	blood:
2	chr21:47966167..47967910-chr21:47973256..47975447,2	MCF-7	breast:
3	chr21:47970600..47973376-chr21:47976429..47979323,2	MCF-7	breast:
4	chr21:47964144..47967545-chr21:47972969..47977002,4	K562	blood:
5	chr21:47961062..47963795-chr21:47966527..47968756,2	MCF-7	breast:
6	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
7	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
8	chr21:47980561..47982874-chr21:47984744..47986654,2	MCF-7	breast:
9	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
10	chr21:47964705..47967234-chr21:47968598..47971419,5	K562	blood:
11	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
12	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
13	chr21:47974804..47979372-chr21:47979836..47984256,6	MCF-7	breast:
14	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
15	chr17:59415209..59417169-chr21:47966964..47969396,2	MCF-7	breast:
16	chr21:47967795..47973717-chr21:47974569..47979109,7	K562	blood:
17	chr21:47972251..47974231-chr21:48053496..48055796,2	K562	blood:
18	chr21:47974804..47979372-chr21:47979836..47984256,6	MCF-7	breast:
19	chr21:47964705..47967234-chr21:47968598..47971419,5	K562	blood:
20	chr21:47976473..47979943-chr21:47981689..47985824,4	K562	blood:
21	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
22	chr21:47878343..47879844-chr21:47964827..47967163,2	MCF-7	breast:
23	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
24	chr21:47956156..47957836-chr21:47975877..47978282,2	K562	blood:
25	chr21:47966998..47969983-chr21:47970602..47975589,5	MCF-7	breast:
26	chr21:47975607..47978026-chr21:47981816..47984257,4	MCF-7	breast:
27	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
28	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
29	chr21:47967795..47973717-chr21:47974569..47979109,7	K562	blood:

No data

Variant related genes	Relation type
DIP2A	TF binding region
DIP2A	CpG island
ENSG00000160305	chromatin interactions
ENSG00000160310	chromatin interactions

Extended variants
information (count: 930 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11910506	chr21:47966504-47966505	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs546366273	chr21:47966522-47966523	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576605346	chr21:47966536-47966537	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567207064	chr21:47966576-47966577	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113831033	chr21:47966619-47966620	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12627385	chr21:47966628-47966629	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
7	rs571239437	chr21:47966633-47966634	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189714984	chr21:47966654-47966655	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557927843	chr21:47966676-47966677	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576272614	chr21:47966680-47966681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537310616	chr21:47966689-47966690	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142510621	chr21:47966717-47966718	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150498188	chr21:47966718-47966719	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181800756	chr21:47966739-47966740	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553364049	chr21:47966741-47966742	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs578017470	chr21:47966763-47966764	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545564505	chr21:47966766-47966767	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369520660	chr21:47966783-47966784	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377071071	chr21:47966790-47966791	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73152864	chr21:47966791-47966792	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374638632	chr21:47966807-47966808	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2839318	chr21:47966810-47966811	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536969836	chr21:47966820-47966821	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201130788	chr21:47966843-47966844	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374290805	chr21:47966846-47966847	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368275560	chr21:47966860-47966861	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374876420	chr21:47966861-47966862	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200230119	chr21:47966864-47966865	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201517392	chr21:47966871-47966872	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367788167	chr21:47966883-47966884	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546258521	chr21:47966892-47966893	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371626954	chr21:47966903-47966904	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377302362	chr21:47966907-47966908	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201728465	chr21:47966914-47966915	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372643493	chr21:47966918-47966919	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376532274	chr21:47966921-47966922	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201247049	chr21:47966923-47966924	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190412233	chr21:47966929-47966930	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200409878	chr21:47966952-47966953	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369805723	chr21:47966962-47966963	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373435101	chr21:47966963-47966964	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375260481	chr21:47966968-47966969	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs16979358	chr21:47966977-47966978	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
44	rs372557115	chr21:47966978-47966979	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375572494	chr21:47966979-47966980	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371079949	chr21:47966980-47966981	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181899821	chr21:47966981-47966982	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185495426	chr21:47967027-47967028	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553088848	chr21:47967035-47967036	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578100134	chr21:47967061-47967062	Strong transcription Weak transcription ZNF genes & repeats	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:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47933000-47967200	Weak transcription	Fetal Kidney	kidney
2	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
3	chr21:47947200-47975200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:47947600-47967200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:47947600-47989000	Strong transcription	Dnd41	blood
6	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
7	chr21:47948000-47968400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr21:47948400-47971600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:47948600-47971400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
14	chr21:47948800-47969000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:47948800-47970400	Strong transcription	Placenta	Placenta
16	chr21:47948800-47979400	Strong transcription	Liver	Liver
17	chr21:47949000-47969000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:47949000-47979000	Strong transcription	Adipose Nuclei	Adipose
19	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr21:47949600-47968600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr21:47949600-47970200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr21:47949800-47967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47950000-47968800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr21:47950400-47971800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr21:47950400-47974400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:47952000-47978600	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:47952200-47968200	Strong transcription	Fetal Brain Female	brain
33	chr21:47953000-47974800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:47953000-47988200	Strong transcription	Gastric	stomach
35	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:47953200-47967000	Strong transcription	Brain Substantia Nigra	brain
37	chr21:47953200-47968400	Strong transcription	Lung	lung
38	chr21:47953200-47968400	Strong transcription	Spleen	Spleen
39	chr21:47953200-47968600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr21:47953200-47968800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr21:47953200-47971800	Strong transcription	Thymus	Thymus
42	chr21:47953200-47972000	Strong transcription	Ovary	ovary
43	chr21:47953200-47983400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr21:47953200-47988400	Strong transcription	Fetal Intestine Small	intestine
45	chr21:47953200-47993000	Strong transcription	Osteobl	bone
46	chr21:47953400-47967600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:47953400-47969200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:47953400-47969200	Strong transcription	HSMMtube	muscle
49	chr21:47953400-47972000	Strong transcription	Brain Angular Gyrus	brain
50	chr21:47953400-47988000	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links