Variant report

Variant	nsv914147
Chromosome Location	chr21:47958657-47982652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:183)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 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	chr21:47974833-47975086	K562	blood:	n/a	n/a
3	BHLHE40	chr21:47979309-47979386	GM12878	blood:	n/a	n/a
4	BHLHE40	chr21:47979787-47979972	HepG2	liver:	n/a	n/a
5	BRCA1	chr21:47968213-47968319	GM12878	blood:	n/a	n/a
6	CEBPB	chr21:47959732-47959987	K562	blood:	n/a	n/a
7	CTCF	chr21:47971641-47971847	MCF-7	breast:	n/a	n/a
8	CTCF	chr21:47971676-47971792	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr21:47971613-47971810	Lung_OC	lung:	n/a	n/a
10	CTCF	chr21:47959800-47959950	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr21:47971700-47971850	MCF-7	breast:	n/a	n/a
12	CTCF	chr21:47971660-47971810	GM12875	blood:	n/a	n/a
13	CTCF	chr21:47971588-47971929	GM19238	blood:	n/a	n/a
14	CTCF	chr21:47959876-47959886	GM12892	blood:	n/a	n/a
15	CTCF	chr21:47964676-47964755	MCF-7	breast:	n/a	n/a
16	CTCF	chr21:47971625-47971812	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr21:47964560-47964710	MCF-7	breast:	n/a	n/a
18	CTCF	chr21:47971570-47971909	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr21:47971599-47971880	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr21:47971740-47971890	GM12871	blood:	n/a	n/a
21	CTCF	chr21:47964620-47964770	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr21:47964740-47964890	HMEC	breast:	n/a	n/a
23	CTCF	chr21:47962768-47962915	HepG2	liver:	n/a	chr21:47962892-47962905
24	CTCF	chr21:47959796-47959989	K562	blood:	n/a	n/a
25	CTCF	chr21:47962720-47962870	HepG2	liver:	n/a	n/a
26	CTCF	chr21:47959868-47959925	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr21:47965400-47965550	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr21:47971681-47971795	MCF-7	breast:	n/a	n/a
29	CTCF	chr21:47959812-47959954	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr21:47964600-47964750	HMEC	breast:	n/a	n/a
31	CTCF	chr21:47971680-47971830	GM12871	blood:	n/a	n/a
32	CTCF	chr21:47971657-47971828	MCF-7	breast:	n/a	n/a
33	CTCF	chr21:47962820-47962970	WERI-Rb-1	eye:	n/a	chr21:47962892-47962905
34	CTCF	chr21:47971680-47971830	GM12873	blood:	n/a	n/a
35	CTCF	chr21:47971700-47971850	GM12868	blood:	n/a	n/a
36	CTCF	chr21:47977506-47977576	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr21:47959904-47959923	GM12878	blood:	n/a	n/a
38	CTCF	chr21:47959788-47960007	K562	blood:	n/a	n/a
39	CTCF	chr21:47971620-47971770	HepG2	liver:	n/a	n/a
40	CTCF	chr21:47971629-47971847	MCF-7	breast:	n/a	n/a
41	CTCF	chr21:47959841-47959984	K562	blood:	n/a	n/a
42	CTCF	chr21:47971620-47971770	GM12864	blood:	n/a	n/a
43	CTCF	chr21:47971708-47971734	GM12878	blood:	n/a	n/a
44	CTCF	chr21:47971640-47971790	GM12874	blood:	n/a	n/a
45	CTCF	chr21:47971681-47971836	GM13977	blood:	n/a	n/a
46	CTCF	chr21:47971660-47971810	NB4	blood:	n/a	n/a
47	CTCF	chr21:47974900-47975050	HepG2	liver:	n/a	chr21:47974967-47974985 chr21:47974989-47974998 chr21:47974985-47974998
48	CTCF	chr21:47971560-47971710	GM12870	blood:	n/a	n/a
49	CTCF	chr21:47971660-47971910	GM12864	blood:	n/a	n/a
50	CTCF	chr21:47971724-47971809	GM12892	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47966967-47967017	ovcar-3	ovarian:	n/a
2	chr21:47965968-47966018	AoSMC	blood vessel:	n/a
3	chr21:47965968-47966018	HEK293	kidney:	embryo
4	chr21:47966967-47967017	K562	blood:	n/a
5	chr21:47969887-47969937	AG09309	skin:	n/a
6	chr21:47966967-47967017	MCF-7	breast:	n/a
7	chr21:47966967-47967017	NB4	blood:	n/a
8	chr21:47969887-47969937	MCF-7	breast:	n/a
9	chr21:47965968-47966018	H1-hESC	embryonic stem cell:	embryo
10	chr21:47969887-47969937	HRCEpiC	kidney:	n/a
11	chr21:47966967-47967017	ECC-1	luminal epithelium:	n/a
12	chr21:47969887-47969937	GM12891	blood:	n/a
13	chr21:47966967-47967017	IMR90	lung:	fetal
14	chr21:47966967-47967017	HCF	heart:	n/a
15	chr21:47966967-47967017	PrEC	prostate:	n/a
16	chr21:47965968-47966018	HNPCEpiC	eye:	n/a
17	chr21:47965968-47966018	SK-N-MC	brain:	n/a
18	chr21:47965968-47966018	HPAEpiC	pulmonary alveolar:	n/a
19	chr21:47965968-47966018	Caco-2	colon:	n/a
20	chr21:47965968-47966018	AG04449	skin:	fetal
21	chr21:47965968-47966018	NT2-D1	testis:	n/a
22	chr21:47969887-47969937	MCF10A-Er-Src	breast:	n/a
23	chr21:47966967-47967017	AG10803	skin:	n/a
24	chr21:47969887-47969937	GM06990	blood:	n/a
25	chr21:47965968-47966018	SK-N-SH	brain:	n/a
26	chr21:47966967-47967017	LNCaP	prostate:	n/a
27	chr21:47965968-47966018	NH-A	brain:	n/a
28	chr21:47965968-47966018	GM12878	blood:	n/a
29	chr21:47969887-47969937	NHDF-neo	bronchial:	n/a
30	chr21:47969887-47969937	HUVEC	blood vessel:	n/a
31	chr21:47966967-47967017	SKMC	muscle:	n/a
32	chr21:47965968-47966018	A549	lung:	n/a
33	chr21:47966967-47967017	AG04449	skin:	fetal
34	chr21:47966967-47967017	U87	brain:	n/a
35	chr21:47966967-47967017	SK-N-SH	brain:	n/a
36	chr21:47966967-47967017	AG04450	lung:	fetal
37	chr21:47969887-47969937	PFSK-1	brain:	n/a
38	chr21:47966967-47967017	Hela-S3	cervix:	n/a
39	chr21:47965968-47966018	HCM	heart:	n/a
40	chr21:47965968-47966018	U87	brain:	n/a
41	chr21:47969887-47969937	AG04449	skin:	fetal
42	chr21:47969887-47969937	HCM	heart:	n/a
43	chr21:47965968-47966018	Hela-S3	cervix:	n/a
44	chr21:47966967-47967017	AoSMC	blood vessel:	n/a
45	chr21:47969887-47969937	A549	lung:	n/a
46	chr21:47966967-47967017	CMK	blood:	n/a
47	chr21:47966967-47967017	RPTEC	kidney:	n/a
48	chr21:47966967-47967017	HRPEpiC	eye:	n/a
49	chr21:47965968-47966018	HUVEC	blood vessel:	n/a
50	chr21:47969887-47969937	HAEpiC	amniotic membrane:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47967795..47973717-chr21:47974569..47979109,7	K562	blood:
2	chr21:47966998..47969983-chr21:47970602..47975589,5	MCF-7	breast:
3	chr21:47966167..47967910-chr21:47973256..47975447,2	MCF-7	breast:
4	chr21:47955962..47958891-chr21:47961483..47965848,4	MCF-7	breast:
5	chr21:47964705..47967234-chr21:47968598..47971419,5	K562	blood:
6	chr21:47961062..47963795-chr21:47966527..47968756,2	MCF-7	breast:
7	chr21:47975607..47978026-chr21:47981816..47984257,4	MCF-7	breast:
8	chr21:47961860..47963778-chr21:47982193..47984274,2	K562	blood:
9	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
10	chr21:47961062..47963795-chr21:47966527..47968756,2	MCF-7	breast:
11	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
12	chr21:47878343..47879844-chr21:47964827..47967163,2	MCF-7	breast:
13	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
14	chr21:47974804..47979372-chr21:47979836..47984256,6	MCF-7	breast:
15	chr21:47953839..47956142-chr21:47957662..47960232,2	K562	blood:
16	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
17	chr21:47964705..47967234-chr21:47968598..47971419,5	K562	blood:
18	chr21:47956395..47958346-chr21:47958999..47961279,2	K562	blood:
19	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
20	chr21:47974804..47979372-chr21:47979836..47984256,6	MCF-7	breast:
21	chr21:47959900..47962353-chr21:47964256..47965869,2	K562	blood:
22	chr21:47956395..47958926-chr21:47959056..47961710,3	K562	blood:
23	chr21:47967795..47973717-chr21:47974569..47979109,7	K562	blood:
24	chr21:47976473..47979943-chr21:47981689..47985824,4	K562	blood:
25	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
26	chr21:47972251..47974231-chr21:48053496..48055796,2	K562	blood:
27	chr21:47956156..47957836-chr21:47975877..47978282,2	K562	blood:
28	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
29	chr21:47970600..47973376-chr21:47976429..47979323,2	MCF-7	breast:
30	chr21:47949927..47954811-chr21:47962745..47966393,6	K562	blood:
31	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
32	chr21:47959900..47962353-chr21:47964256..47965869,2	K562	blood:
33	chr21:47393731..47395290-chr21:47958756..47960479,2	K562	blood:
34	chr21:47964144..47967545-chr21:47972969..47977002,4	K562	blood:
35	chr17:59415209..59417169-chr21:47966964..47969396,2	MCF-7	breast:

No data

Variant related genes	Relation type
DIP2A	TF binding region
DIP2A	CpG island
ENSG00000272283	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000160305	chromatin interactions

Extended variants
information (count: 1115 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839313	chr21:47958657-47958658	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530286577	chr21:47958658-47958659	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144868728	chr21:47958663-47958664	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560701042	chr21:47958723-47958724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371543073	chr21:47958760-47958761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111238913	chr21:47958841-47958842	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141976645	chr21:47958843-47958844	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146287723	chr21:47958868-47958869	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148536104	chr21:47958869-47958870	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549979200	chr21:47958924-47958925	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11909840	chr21:47958964-47958965	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142523003	chr21:47958972-47958973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553483368	chr21:47958984-47958985	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149943813	chr21:47958999-47959000	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568231463	chr21:47959001-47959002	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs59781863	chr21:47959007-47959008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs8127475	chr21:47959008-47959009	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200494570	chr21:47959011-47959012	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535587827	chr21:47959030-47959031	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553531992	chr21:47959039-47959040	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191624596	chr21:47959083-47959084	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539345478	chr21:47959126-47959127	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141886685	chr21:47959161-47959162	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150678902	chr21:47959212-47959213	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543425001	chr21:47959278-47959279	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561729451	chr21:47959296-47959297	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573764854	chr21:47959314-47959315	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574918966	chr21:47959340-47959341	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541155495	chr21:47959382-47959383	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560664133	chr21:47959385-47959386	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570955447	chr21:47959397-47959398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184558193	chr21:47959398-47959399	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552549782	chr21:47959436-47959437	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34649754	chr21:47959463-47959464	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139857908	chr21:47959483-47959484	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531573432	chr21:47959519-47959520	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549749181	chr21:47959531-47959532	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568146753	chr21:47959543-47959544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535553154	chr21:47959613-47959614	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113022682	chr21:47959642-47959643	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370732468	chr21:47959668-47959669	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1008548	chr21:47959692-47959693	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs1008549	chr21:47959698-47959699	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs557737983	chr21:47959707-47959708	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117443865	chr21:47959731-47959732	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536977609	chr21:47959749-47959750	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372755559	chr21:47959752-47959753	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377314850	chr21:47959762-47959763	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201088931	chr21:47959764-47959765	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374778584	chr21:47959765-47959766	Weak transcription Strong transcription Genic enhancers Enhancers	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:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47932000-47961400	Weak transcription	Fetal Brain Male	brain
2	chr21:47933000-47967200	Weak transcription	Fetal Kidney	kidney
3	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
4	chr21:47947200-47975200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr21:47947400-47965600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:47947600-47967200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:47947600-47989000	Strong transcription	Dnd41	blood
8	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
9	chr21:47948000-47960200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr21:47948000-47968400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:47948400-47971600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:47948600-47971400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
17	chr21:47948800-47969000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:47948800-47970400	Strong transcription	Placenta	Placenta
19	chr21:47948800-47979400	Strong transcription	Liver	Liver
20	chr21:47949000-47965000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:47949000-47965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:47949000-47969000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr21:47949000-47979000	Strong transcription	Adipose Nuclei	Adipose
24	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:47949600-47962400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr21:47949600-47968600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr21:47949600-47970200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr21:47949800-47967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:47950000-47965200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:47950000-47968800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:47950200-47959400	Strong transcription	Primary B cells from cord blood	blood
36	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr21:47950400-47971800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr21:47950400-47974400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:47950600-47963800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr21:47952000-47965200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:47952000-47978600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:47952200-47968200	Strong transcription	Fetal Brain Female	brain
43	chr21:47952400-47962600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr21:47952800-47961200	Strong transcription	Primary T cells from cord blood	blood
45	chr21:47953000-47974800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:47953000-47988200	Strong transcription	Gastric	stomach
47	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:47953200-47963200	Strong transcription	Fetal Lung	lung
49	chr21:47953200-47964600	Strong transcription	Esophagus	oesophagus
50	chr21:47953200-47965000	Strong transcription	NHEK	skin

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