Variant report

Variant	esv1005792
Chromosome Location	chr21:45741649-45742840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45742040-45742190	NHEK	skin:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
2	CTCF	chr21:45742691-45742772	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr21:45742076-45742191	H1-hESC	embryonic stem cell:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
4	CTCF	chr21:45742000-45742150	SK-N-SH_RA	brain:	n/a	chr21:45742092-45742105
5	CTCF	chr21:45742040-45742190	WERI-Rb-1	eye:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
6	CTCF	chr21:45742060-45742210	Hela-S3	cervix:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
7	CTCF	chr21:45742048-45742258	H1-hESC	embryonic stem cell:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
8	CTCF	chr21:45742080-45742230	HepG2	liver:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
9	CTCF	chr21:45742100-45742250	GM12874	blood:	n/a	chr21:45742147-45742160 chr21:45742144-45742152
10	CTCF	chr21:45742060-45742210	HEK293	kidney:	n/a	chr21:45742147-45742160 chr21:45742144-45742152 chr21:45742092-45742105
11	HMGN3	chr21:45741788-45742010	K562	blood:	n/a	n/a
12	POLR2A	chr21:45742001-45742006	K562	blood:	n/a	n/a
13	POLR2A	chr21:45741535-45741798	K562	blood:	n/a	n/a
14	POLR2A	chr21:45741863-45742012	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr21:45742327-45742503	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:45741684-45741843	MCF-7	breast:	n/a	n/a
17	POLR2A	chr21:45742249-45743062	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr21:45742795-45742816	ProgFib	skin:	n/a	n/a
19	POLR2A	chr21:45741606-45741935	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:45742033-45742053	HepG2	liver:	n/a	n/a
21	POLR2A	chr21:45741842-45741918	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr21:45742679-45742806	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:45742793-45743074	GM12892	blood:	n/a	n/a
24	POLR2A	chr21:45742272-45742285	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:45742614-45742750	ProgFib	skin:	n/a	n/a
26	POLR2A	chr21:45742330-45742332	K562	blood:	n/a	n/a
27	POLR2A	chr21:45742368-45742675	MCF-7	breast:	n/a	n/a
28	POLR2A	chr21:45741789-45741827	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr21:45742140-45742414	GM12891	blood:	n/a	n/a
30	POLR2A	chr21:45741310-45744615	K562	blood:	n/a	n/a
31	POLR2A	chr21:45742698-45743095	GM12892	blood:	n/a	n/a
32	POLR2A	chr21:45742175-45742900	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:45742693-45742846	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr21:45742071-45742202	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr21:45742503-45742924	GM12878	blood:	n/a	n/a
36	POLR2A	chr21:45742666-45742917	GM12891	blood:	n/a	n/a
37	POLR2A	chr21:45741468-45746485	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:45742234-45742259	GM12878	blood:	n/a	n/a
39	POLR2A	chr21:45742000-45742825	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:45742057-45744345	K562	blood:	n/a	n/a
41	POLR2A	chr21:45742056-45742104	MCF-7	breast:	n/a	n/a
42	POLR2A	chr21:45741594-45741760	GM12878	blood:	n/a	n/a
43	POLR2A	chr21:45742293-45742347	HepG2	liver:	n/a	n/a
44	POLR2A	chr21:45742246-45742439	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr21:45741981-45742052	MCF-7	breast:	n/a	n/a
46	POLR2A	chr21:45742548-45742855	GM12891	blood:	n/a	n/a
47	POLR2A	chr21:45741539-45741726	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr21:45741806-45742142	GM12878	blood:	n/a	n/a
49	POLR2A	chr21:45741517-45742031	HepG2	liver:	n/a	n/a
50	POLR2A	chr21:45741711-45742679	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45742621-45742671	HEEpiC	esophagus:	n/a
2	chr21:45742621-45742671	CMK	blood:	n/a
3	chr21:45742747-45742797	HAEpiC	amniotic membrane:	n/a
4	chr21:45742621-45742671	SK-N-SH	brain:	n/a
5	chr21:45742621-45742671	Jurkat	blood:	n/a
6	chr21:45742747-45742797	HL-60	blood:	n/a
7	chr21:45742671-45742721	HCT-116	colon:	n/a
8	chr21:45742621-45742671	IMR90	lung:	fetal
9	chr21:45742621-45742671	HPAEpiC	pulmonary alveolar:	n/a
10	chr21:45742747-45742797	NT2-D1	testis:	n/a
11	chr21:45742621-45742671	ovcar-3	ovarian:	n/a
12	chr21:45742671-45742721	GM12878	blood:	n/a
13	chr21:45742621-45742671	AG09309	skin:	n/a
14	chr21:45742747-45742797	NH-A	brain:	n/a
15	chr21:45742747-45742797	LNCaP	prostate:	n/a
16	chr21:45742621-45742671	SKMC	muscle:	n/a
17	chr21:45742671-45742721	SKMC	muscle:	n/a
18	chr21:45742621-45742671	NB4	blood:	n/a
19	chr21:45742671-45742721	HRE	kidney:	n/a
20	chr21:45742747-45742797	ECC-1	luminal epithelium:	n/a
21	chr21:45742621-45742671	SAEC	small airway:	n/a
22	chr21:45742747-45742797	Hela-S3	cervix:	n/a
23	chr21:45742621-45742671	NHBE	bronchial:	n/a
24	chr21:45742671-45742721	HCF	heart:	n/a
25	chr21:45742671-45742721	AG09309	skin:	n/a
26	chr21:45742621-45742671	BJ	skin:	n/a
27	chr21:45742747-45742797	HEK293	kidney:	embryo
28	chr21:45742671-45742721	PANC-1	pancreas:	n/a
29	chr21:45742671-45742721	BJ	skin:	n/a
30	chr21:45742671-45742721	HMEC	breast:	n/a
31	chr21:45742671-45742721	ProgFib	skin:	n/a
32	chr21:45742747-45742797	AG09309	skin:	n/a
33	chr21:45742621-45742671	HRCEpiC	kidney:	n/a
34	chr21:45742621-45742671	U87	brain:	n/a
35	chr21:45742747-45742797	HCF	heart:	n/a
36	chr21:45742747-45742797	SK-N-MC	brain:	n/a
37	chr21:45742747-45742797	GM12878	blood:	n/a
38	chr21:45742671-45742721	PFSK-1	brain:	n/a
39	chr21:45742621-45742671	K562	blood:	n/a
40	chr21:45742621-45742671	SK-N-MC	brain:	n/a
41	chr21:45742621-45742671	HCT-116	colon:	n/a
42	chr21:45742747-45742797	HPAEpiC	pulmonary alveolar:	n/a
43	chr21:45742747-45742797	GM12891	blood:	n/a
44	chr21:45742747-45742797	GM06990	blood:	n/a
45	chr21:45742621-45742671	HCF	heart:	n/a
46	chr21:45742621-45742671	MCF-7	breast:	n/a
47	chr21:45742671-45742721	Jurkat	blood:	n/a
48	chr21:45742621-45742671	HCM	heart:	n/a
49	chr21:45742621-45742671	HRPEpiC	eye:	n/a
50	chr21:45742747-45742797	SK-N-SH	brain:	n/a

Variant related genes	Relation type
PFKL	TF binding region
PFKL	CpG island

Extended variants
information (count: 80 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377612487	chr21:45741650-45741651	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142622427	chr21:45741653-45741654	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370654012	chr21:45741661-45741662	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150413035	chr21:45741671-45741672	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs373338252	chr21:45741682-45741683	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138123944	chr21:45741688-45741689	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200562964	chr21:45741694-45741695	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs376101376	chr21:45741713-45741714	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367845090	chr21:45741719-45741720	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371741801	chr21:45741731-45741732	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201866590	chr21:45741767-45741768	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs183169011	chr21:45741769-45741770	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200853088	chr21:45741795-45741796	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs568234418	chr21:45741834-45741835	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs4818904	chr21:45741854-45741855	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114738809	chr21:45741875-45741876	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561695483	chr21:45741883-45741884	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528881380	chr21:45741884-45741885	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112570903	chr21:45741885-45741886	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187534699	chr21:45741900-45741901	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs559489241	chr21:45741914-45741915	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs533572719	chr21:45741926-45741927	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs551644121	chr21:45741928-45741929	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs34012756	chr21:45741964-45741965	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570346588	chr21:45741989-45741990	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531135307	chr21:45742001-45742002	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs369944587	chr21:45742015-45742016	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374284583	chr21:45742030-45742031	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549634306	chr21:45742033-45742034	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs142617054	chr21:45742045-45742046	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377152822	chr21:45742103-45742104	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369542489	chr21:45742108-45742109	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2277808	chr21:45742115-45742116	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs565415846	chr21:45742140-45742141	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs377372056	chr21:45742143-45742144	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs193013804	chr21:45742266-45742267	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs151330277	chr21:45742271-45742272	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs184151905	chr21:45742296-45742297	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187494223	chr21:45742297-45742298	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557299633	chr21:45742306-45742307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368559052	chr21:45742311-45742312	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs577142580	chr21:45742329-45742330	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs576163903	chr21:45742335-45742336	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs543388470	chr21:45742355-45742356	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555691566	chr21:45742376-45742377	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs573727793	chr21:45742403-45742404	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs540983806	chr21:45742414-45742415	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371926498	chr21:45742425-45742426	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs34835108	chr21:45742468-45742469	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538486302	chr21:45742470-45742471	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Williams-beuren syndrome	16826523	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45721000-45757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45724600-45744000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:45724800-45748400	Strong transcription	Dnd41	blood
4	chr21:45725000-45758000	Weak transcription	Right Atrium	heart
5	chr21:45725400-45747800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45725400-45748000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45725600-45747600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr21:45725600-45748000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:45725600-45752800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:45725800-45757400	Strong transcription	Thymus	Thymus
11	chr21:45726000-45747800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:45726000-45749200	Strong transcription	NHLF	lung
13	chr21:45726200-45747000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:45726200-45747600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr21:45726200-45747600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr21:45726200-45747600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr21:45726200-45748000	Strong transcription	Colonic Mucosa	Colon
18	chr21:45726200-45748200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr21:45726200-45753200	Strong transcription	Fetal Stomach	stomach
20	chr21:45726400-45747600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:45726400-45747800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:45726400-45748400	Strong transcription	Adipose Nuclei	Adipose
23	chr21:45726400-45751600	Strong transcription	Fetal Muscle Leg	muscle
24	chr21:45726600-45746400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr21:45726600-45747600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr21:45726600-45747800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr21:45726600-45747800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:45726600-45747800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr21:45726600-45748200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:45726600-45748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45726600-45748600	Strong transcription	Liver	Liver
32	chr21:45726600-45749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:45726600-45749400	Strong transcription	Brain Germinal Matrix	brain
34	chr21:45726600-45749400	Strong transcription	Fetal Intestine Large	intestine
35	chr21:45726600-45753200	Strong transcription	Gastric	stomach
36	chr21:45726600-45757200	Strong transcription	Fetal Intestine Small	intestine
37	chr21:45726800-45743000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr21:45726800-45748400	Strong transcription	Right Ventricle	heart
39	chr21:45727000-45750600	Strong transcription	Fetal Brain Female	brain
40	chr21:45727200-45748400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:45727400-45747600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr21:45727600-45750200	Weak transcription	NHDF-Ad	bronchial
43	chr21:45727600-45751200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr21:45727800-45751800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:45728800-45747800	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr21:45729000-45742600	Strong transcription	Fetal Thymus	thymus
47	chr21:45729000-45747600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr21:45729200-45747800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:45729400-45747400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:45729400-45752800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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