Variant report

Variant	esv2751931
Chromosome Location	chr21:45990446-46031810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:511)
CpG islands
(count:1098)
Chromatin interactive
region (count:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46013768-46014182	K562	blood:	n/a	n/a
2	ARID3A	chr21:46013320-46013718	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46003779-46003798	HepG2	liver:	n/a	n/a
4	ATF1	chr21:45993004-45993077	K562	blood:	n/a	n/a
5	ATF1	chr21:46001857-46002317	K562	blood:	n/a	n/a
6	ATF1	chr21:46013788-46014363	K562	blood:	n/a	n/a
7	ATF3	chr21:46013551-46013831	HepG2	liver:	n/a	n/a
8	BACH1	chr21:46013828-46013867	K562	blood:	n/a	n/a
9	BATF	chr21:46003684-46003988	GM12878	blood:	n/a	chr21:46003842-46003853
10	BATF	chr21:46003684-46003941	GM12878	blood:	n/a	chr21:46003842-46003853
11	BCLAF1	chr21:46003696-46003953	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:46003254-46003447	K562	blood:	n/a	n/a
13	BHLHE40	chr21:46013465-46013847	HepG2	liver:	n/a	n/a
14	BHLHE40	chr21:46003781-46003870	HepG2	liver:	n/a	n/a
15	BHLHE40	chr21:45993089-45993220	K562	blood:	n/a	n/a
16	BHLHE40	chr21:46013480-46013870	HepG2	liver:	n/a	n/a
17	BHLHE40	chr21:46003715-46003915	GM12878	blood:	n/a	n/a
18	BHLHE40	chr21:46024003-46024103	K562	blood:	n/a	chr21:46024066-46024079 chr21:46024069-46024078 chr21:46024068-46024077 chr21:46024068-46024077
19	BHLHE40	chr21:46022581-46022689	K562	blood:	n/a	n/a
20	BHLHE40	chr21:45993089-45993414	HepG2	liver:	n/a	n/a
21	BHLHE40	chr21:46013494-46014296	K562	blood:	n/a	n/a
22	BHLHE40	chr21:46001901-46002243	K562	blood:	n/a	n/a
23	BRCA1	chr21:46013003-46013117	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr21:46013585-46014139	K562	blood:	n/a	n/a
25	CCNT2	chr21:46001980-46002156	K562	blood:	n/a	n/a
26	CCNT2	chr21:46013834-46014226	K562	blood:	n/a	n/a
27	CEBPB	chr21:45992071-45992108	HepG2	liver:	n/a	n/a
28	CEBPB	chr21:45992965-45993094	HepG2	liver:	n/a	n/a
29	CEBPB	chr21:46013387-46013649	HepG2	liver:	n/a	n/a
30	CEBPB	chr21:46013656-46014348	K562	blood:	n/a	n/a
31	CEBPB	chr21:46013697-46014257	K562	blood:	n/a	n/a
32	CEBPB	chr21:46013452-46013488	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr21:45994898-45995082	HepG2	liver:	n/a	n/a
34	CEBPB	chr21:45992028-45992129	K562	blood:	n/a	chr21:45992102-45992113
35	CEBPD	chr21:46013758-46014309	K562	blood:	n/a	n/a
36	CEBPD	chr21:46013737-46014144	K562	blood:	n/a	n/a
37	CHD2	chr21:45994914-45995251	HepG2	liver:	n/a	chr21:45995063-45995073
38	CREB1	chr21:46003637-46004073	GM12878	blood:	n/a	n/a
39	CREB1	chr21:46003590-46003944	GM12878	blood:	n/a	n/a
40	CTCF	chr21:46000126-46000341	MCF-7	breast:	n/a	n/a
41	CTCF	chr21:45994360-45994510	K562	blood:	n/a	n/a
42	CTCF	chr21:46021108-46021346	NHEK	skin:	n/a	n/a
43	CTCF	chr21:45994440-45994590	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr21:46000244-46000295	LNCaP	prostate:	n/a	n/a
45	CTCF	chr21:46021180-46021330	HepG2	liver:	n/a	n/a
46	CTCF	chr21:46000188-46000237	Gliobla	brain:	n/a	n/a
47	CTCF	chr21:46003778-46003834	ProgFib	skin:	n/a	n/a
48	CTCF	chr21:45993986-45994189	Lung_OC	lung:	n/a	n/a
49	CTCF	chr21:45994233-45994308	K562	blood:	n/a	n/a
50	CTCF	chr21:45994380-45994530	SK-N-SH_RA	brain:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46012520-46012570	HL-60	blood:	n/a
2	chr21:46011329-46011379	NHBE	bronchial:	n/a
3	chr21:46013658-46013708	SAEC	small airway:	n/a
4	chr21:46001680-46001730	ProgFib	skin:	n/a
5	chr21:45994842-45994892	HCT-116	colon:	n/a
6	chr21:46001680-46001730	HEK293	kidney:	embryo
7	chr21:45992414-45992464	HCF	heart:	n/a
8	chr21:45992414-45992464	U87	brain:	n/a
9	chr21:45992152-45992202	GM12878	blood:	n/a
10	chr21:46031707-46031757	IMR90	lung:	fetal
11	chr21:46020126-46020176	HRCEpiC	kidney:	n/a
12	chr21:46021988-46022038	HCM	heart:	n/a
13	chr21:46021244-46021294	HEK293	kidney:	embryo
14	chr21:46013658-46013708	PFSK-1	brain:	n/a
15	chr21:46031707-46031757	HCT-116	colon:	n/a
16	chr21:45994842-45994892	AG09309	skin:	n/a
17	chr21:46019570-46019620	HAEpiC	amniotic membrane:	n/a
18	chr21:46031707-46031757	AG09319	gingival:	n/a
19	chr21:46021244-46021294	HCPEpiC	choroid plexus:	n/a
20	chr21:46031741-46031791	NB4	blood:	n/a
21	chr21:46031741-46031791	ECC-1	luminal epithelium:	n/a
22	chr21:46012520-46012570	NHDF-neo	bronchial:	n/a
23	chr21:46001928-46001978	IMR90	lung:	fetal
24	chr21:45999571-45999621	GM06990	blood:	n/a
25	chr21:45999571-45999621	HIPEpiC	eye:	n/a
26	chr21:45992414-45992464	BE2_C	brain:	n/a
27	chr21:46020461-46020511	ovcar-3	ovarian:	n/a
28	chr21:46021988-46022038	HepG2	liver:	n/a
29	chr21:46031707-46031757	SKMC	muscle:	n/a
30	chr21:46013658-46013708	SK-N-SH	brain:	n/a
31	chr21:46001680-46001730	A549	lung:	n/a
32	chr21:46019570-46019620	K562	blood:	n/a
33	chr21:46001680-46001730	HAEpiC	amniotic membrane:	n/a
34	chr21:46001680-46001730	HRPEpiC	eye:	n/a
35	chr21:45999571-45999621	HAEpiC	amniotic membrane:	n/a
36	chr21:46001680-46001730	NHBE	bronchial:	n/a
37	chr21:46031741-46031791	HCT-116	colon:	n/a
38	chr21:46012520-46012570	GM12892	blood:	n/a
39	chr21:46012520-46012570	GM19239	blood:	n/a
40	chr21:46001680-46001730	GM06990	blood:	n/a
41	chr21:46020126-46020176	HMEC	breast:	n/a
42	chr21:46012520-46012570	GM12878	blood:	n/a
43	chr21:46021244-46021294	MCF10A-Er-Src	breast:	n/a
44	chr21:45992414-45992464	GM19239	blood:	n/a
45	chr21:46020461-46020511	T-47D	breast:	n/a
46	chr21:46021988-46022038	NHBE	bronchial:	n/a
47	chr21:46001680-46001730	NT2-D1	testis:	n/a
48	chr21:45992152-45992202	AG09319	gingival:	n/a
49	chr21:46001680-46001730	RPTEC	kidney:	n/a
50	chr21:45999571-45999621	PFSK-1	brain:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46023116..46026036-chr21:46032352..46034707,2	K562	blood:
2	chr21:46023322..46027722-chr21:46030622..46034722,4	MCF-7	breast:
3	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:
4	chr21:46013451..46015943-chr21:46020098..46022022,2	K562	blood:
5	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:
6	chr21:45996027..45998365-chr21:45999932..46001503,2	MCF-7	breast:
7	chr21:45987563..45989403-chr21:45990992..45992920,2	MCF-7	breast:
8	chr21:46021562..46023632-chr21:46186668..46188181,2	K562	blood:
9	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:
10	chr21:46013183..46015349-chr21:46017921..46020365,2	MCF-7	breast:
11	chr21:46001819..46004380-chr21:46009202..46011051,3	K562	blood:
12	chr21:45989841..45993258-chr21:45994452..45997591,3	MCF-7	breast:
13	chr21:45947897..45950026-chr21:45993818..45996487,2	MCF-7	breast:
14	chr21:46001819..46004380-chr21:46009202..46011051,3	K562	blood:
15	chr21:46004403..46006273-chr21:46126860..46128813,2	MCF-7	breast:
16	chr21:45997782..46000332-chr21:46014593..46016862,2	MCF-7	breast:
17	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:
18	chr21:45989841..45993258-chr21:45994452..45997591,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRTAP10-4-1	chr21:45997192-45997328	NONHSAT082869
2	lnc-KRTAP10-4-1	chr21:45994970-45995428	NONHSAT082869
3	lnc-KRTAP10-4-1	chr21:45995808-45995960	NONHSAT082869
4	lnc-KRTAP10-5-1	chr21:45999254-45999677	NONHSAT082870

No data

Variant related genes	Relation type
KRTAP10-7	TF binding region
TSPEAR	TF binding region
KRTAP10-5	TF binding region
ENSG00000256212	TF binding region
KRTAP10-4	TF binding region
KRTAP10-8	TF binding region
KRTAP10-6	TF binding region
KRTAP10-7	CpG island
TSPEAR	CpG island
KRTAP10-5	CpG island
ENSG00000256212	CpG island
KRTAP10-4	CpG island
KRTAP10-8	CpG island
KRTAP10-6	CpG island
ENSG00000256212	chromatin interactions
ENSG00000241123	chromatin interactions
ENSG00000187766	chromatin interactions
ENSG00000205441	chromatin interactions
ENSG00000188155	chromatin interactions

Extended variants
information (count: 2303 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2303 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs233275	chr21:45990446-45990447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193090489	chr21:45990458-45990459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117267229	chr21:45990470-45990471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370923032	chr21:45990522-45990523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373430289	chr21:45990535-45990536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587774855	chr21:45990576-45990577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587640296	chr21:45990580-45990581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587705504	chr21:45990636-45990637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185487316	chr21:45990639-45990640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147807342	chr21:45990665-45990666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113485348	chr21:45990707-45990708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587724329	chr21:45990732-45990733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190424091	chr21:45990755-45990756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587679574	chr21:45990765-45990766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587738740	chr21:45990784-45990785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139575647	chr21:45990791-45990792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs233276	chr21:45990819-45990820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs180720269	chr21:45990839-45990840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34030467	chr21:45990841-45990842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397867625	chr21:45990843-45990844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375124964	chr21:45990848-45990849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185161005	chr21:45990852-45990853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74572654	chr21:45990898-45990899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587715199	chr21:45990928-45990929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587771526	chr21:45991015-45991016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587647749	chr21:45991026-45991027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs9637184	chr21:45991038-45991039	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370602721	chr21:45991146-45991147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188456197	chr21:45991165-45991166	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375131241	chr21:45991174-45991175	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587763036	chr21:45991196-45991197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181329969	chr21:45991262-45991263	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs458178	chr21:45991288-45991289	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186749637	chr21:45991302-45991303	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs587681451	chr21:45991328-45991329	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs587706086	chr21:45991364-45991365	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs465883	chr21:45991389-45991390	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs587653682	chr21:45991440-45991441	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116430631	chr21:45991475-45991476	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs149923830	chr21:45991517-45991518	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs191644172	chr21:45991529-45991530	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs587752332	chr21:45991537-45991538	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs587648131	chr21:45991578-45991579	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs587719520	chr21:45991579-45991580	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115805688	chr21:45991580-45991581	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs587632137	chr21:45991584-45991585	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs114534764	chr21:45991585-45991586	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587768629	chr21:45991628-45991629	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs367595654	chr21:45991630-45991631	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs145005525	chr21:45991661-45991662	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45978400-45994400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:45989000-45994200	Weak transcription	Gastric	stomach
3	chr21:45989400-45991200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45991200-45991600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:45991200-45992200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:45991400-45991800	Bivalent Enhancer	HepG2	liver
7	chr21:45991600-45992000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45991800-45994400	Enhancers	HepG2	liver
9	chr21:45992000-45992800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45992200-45994400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:45992600-45994000	Enhancers	Stomach Mucosa	stomach
12	chr21:45992800-45993000	Bivalent Enhancer	Osteobl	bone
13	chr21:45992800-45993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:45993200-45993400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:45993200-45993400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45993200-45993400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
17	chr21:45993200-45993600	Enhancers	Fetal Brain Male	brain
18	chr21:45993400-45994200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr21:45993400-45994400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:45994200-45994400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr21:45994200-45994400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr21:45994200-45994600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr21:45994200-45994600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr21:45994200-45994800	Enhancers	Esophagus	oesophagus
25	chr21:45994200-45995000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr21:45994200-45995000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr21:45994200-45995000	Enhancers	Gastric	stomach
28	chr21:45994200-45995600	Enhancers	Liver	Liver
29	chr21:45994400-45994600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr21:45994400-45994600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:45994400-45994600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr21:45994400-45994600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
33	chr21:45994400-45994800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr21:45994400-45994800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr21:45994400-45995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:45994400-45995000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:45994400-45995000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr21:45994400-45995000	Enhancers	Pancreas	Pancrea
39	chr21:45994400-45995000	Flanking Active TSS	HepG2	liver
40	chr21:45994400-45995200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:45994400-45995200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr21:45994400-45995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:45994400-45995400	Enhancers	Spleen	Spleen
44	chr21:45994600-45995000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr21:45994600-45995200	Bivalent Enhancer	Stomach Mucosa	stomach
46	chr21:45994600-45995400	Enhancers	Colonic Mucosa	Colon
47	chr21:45994600-45995400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr21:45994600-46003800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:45994800-45995000	Active TSS	Duodenum Mucosa	Duodenum
50	chr21:45994800-45995000	Bivalent Enhancer	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links