Variant report

Variant	esv3387540
Chromosome Location	chr1:227919379-227922177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:183)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:227921528-227921561	Lung_OC	lung:	n/a	n/a
2	HEY1	chr1:227920494-227920704	K562	blood:	n/a	n/a
3	HEY1	chr1:227919386-227919825	K562	blood:	n/a	n/a
4	HMGN3	chr1:227920051-227920227	K562	blood:	n/a	n/a
5	JUN	chr1:227921816-227924147	K562	blood:	n/a	n/a
6	MAX	chr1:227922166-227923527	A549	lung:	n/a	chr1:227922598-227922607
7	MAX	chr1:227922084-227923421	K562	blood:	n/a	chr1:227922598-227922607
8	MAX	chr1:227921570-227921975	MCF-7	breast:	n/a	n/a
9	MAZ	chr1:227922175-227924196	IMR90	lung:	n/a	chr1:227922598-227922607
10	MXI1	chr1:227921582-227923837	IMR90	lung:	n/a	n/a
11	MYC	chr1:227921655-227921800	MCF-7	breast:	n/a	n/a
12	MYC	chr1:227922036-227922138	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr1:227921640-227921775	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:227921149-227921156	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:227919566-227919666	A549	lung:	n/a	n/a
16	POLR2A	chr1:227919786-227920178	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:227916248-227922017	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr1:227919768-227919781	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:227921132-227921136	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:227915592-227919533	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:227920996-227921895	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:227916272-227919690	GM12891	blood:	n/a	n/a
23	POLR2A	chr1:227917586-227919961	GM12891	blood:	n/a	n/a
24	POLR2A	chr1:227921937-227921946	K562	blood:	n/a	n/a
25	POLR2A	chr1:227921688-227921808	A549	lung:	n/a	n/a
26	POLR2A	chr1:227921145-227921195	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:227919201-227919490	K562	blood:	n/a	n/a
28	POLR2A	chr1:227920048-227920802	GM12892	blood:	n/a	n/a
29	POLR2A	chr1:227922177-227923630	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr1:227916271-227919957	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr1:227919655-227919660	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:227920263-227920267	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:227920549-227920730	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:227920732-227920785	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:227921936-227924227	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr1:227919270-227919527	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:227919619-227919688	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr1:227919636-227919640	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:227919199-227919461	A549	lung:	n/a	n/a
40	POLR2A	chr1:227917695-227919551	K562	blood:	n/a	n/a
41	POLR2A	chr1:227915700-227921841	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:227922134-227923498	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr1:227920302-227920748	GM12891	blood:	n/a	n/a
44	POLR2A	chr1:227916302-227920154	PBDE	blood:	n/a	n/a
45	POLR2A	chr1:227922154-227923557	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:227918934-227920392	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:227921954-227921966	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:227921425-227921973	HL-60	blood:	n/a	n/a
49	POLR2A	chr1:227915746-227919787	GM19099	blood:	n/a	n/a
50	POLR2A	chr1:227919913-227919994	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227921688-227921738	SK-N-SH	brain:	n/a
2	chr1:227919729-227919779	Hela-S3	cervix:	n/a
3	chr1:227921688-227921738	A549	lung:	n/a
4	chr1:227921688-227921738	NHBE	bronchial:	n/a
5	chr1:227921688-227921738	BJ	skin:	n/a
6	chr1:227921688-227921738	HMEC	breast:	n/a
7	chr1:227921688-227921738	NB4	blood:	n/a
8	chr1:227921688-227921738	MCF-7	breast:	n/a
9	chr1:227921688-227921738	HIPEpiC	eye:	n/a
10	chr1:227921688-227921738	AoSMC	blood vessel:	n/a
11	chr1:227919729-227919779	HMEC	breast:	n/a
12	chr1:227920667-227920717	HEK293	kidney:	embryo
13	chr1:227921688-227921738	Caco-2	colon:	n/a
14	chr1:227921688-227921738	GM19239	blood:	n/a
15	chr1:227920667-227920717	AG10803	skin:	n/a
16	chr1:227920667-227920717	Hela-S3	cervix:	n/a
17	chr1:227920667-227920717	PrEC	prostate:	n/a
18	chr1:227921688-227921738	PrEC	prostate:	n/a
19	chr1:227920667-227920717	MCF-7	breast:	n/a
20	chr1:227921688-227921738	AG09309	skin:	n/a
21	chr1:227920667-227920717	T-47D	breast:	n/a
22	chr1:227919729-227919779	BE2_C	brain:	n/a
23	chr1:227920667-227920717	HCF	heart:	n/a
24	chr1:227921688-227921738	NT2-D1	testis:	n/a
25	chr1:227919729-227919779	HEEpiC	esophagus:	n/a
26	chr1:227919729-227919779	SK-N-SH	brain:	n/a
27	chr1:227920667-227920717	A549	lung:	n/a
28	chr1:227921688-227921738	NH-A	brain:	n/a
29	chr1:227919729-227919779	GM12878	blood:	n/a
30	chr1:227921688-227921738	CMK	blood:	n/a
31	chr1:227920667-227920717	GM06990	blood:	n/a
32	chr1:227921688-227921738	HRCEpiC	kidney:	n/a
33	chr1:227919729-227919779	SK-N-MC	brain:	n/a
34	chr1:227921688-227921738	ovcar-3	ovarian:	n/a
35	chr1:227921688-227921738	ProgFib	skin:	n/a
36	chr1:227919729-227919779	HEK293	kidney:	embryo
37	chr1:227919729-227919779	SK-N-SH_RA	brain:	n/a
38	chr1:227919729-227919779	HIPEpiC	eye:	n/a
39	chr1:227921688-227921738	SK-N-MC	brain:	n/a
40	chr1:227921688-227921738	HCT-116	colon:	n/a
41	chr1:227921688-227921738	BE2_C	brain:	n/a
42	chr1:227919729-227919779	GM06990	blood:	n/a
43	chr1:227921688-227921738	T-47D	breast:	n/a
44	chr1:227921688-227921738	HEK293	kidney:	embryo
45	chr1:227921688-227921738	HAEpiC	amniotic membrane:	n/a
46	chr1:227921688-227921738	IMR90	lung:	fetal
47	chr1:227919729-227919779	MCF-7	breast:	n/a
48	chr1:227920667-227920717	PFSK-1	brain:	n/a
49	chr1:227919729-227919779	CMK	blood:	n/a
50	chr1:227921688-227921738	H1-hESC	embryonic stem cell:	embryo

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227917861..227920741-chr1:228675887..228677861,2	MCF-7	breast:
2	chr1:227921488..227923041-chr1:228269667..228272192,2	MCF-7	breast:
3	chr1:227919572..227920424-chr3:50273473..50274015,2	NB4	blood:
4	chr1:227754198..227755750-chr1:227920040..227921876,2	K562	blood:
5	chr1:227919994..227921711-chr6:43019722..43021797,2	MCF-7	breast:
6	chr1:227921956..227924183-chr1:227932541..227935696,3	MCF-7	breast:
7	chr1:227672982..227674850-chr1:227918666..227921281,2	MCF-7	breast:
8	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
9	chr1:227750240..227752795-chr1:227921793..227923560,2	K562	blood:
10	chr1:227916734..227919516-chr1:228336405..228338652,2	MCF-7	breast:
11	chr1:227921068..227921710-chr6:7312779..7313456,2	Hela-S3	cervix:
12	chr1:227917727..227921370-chr1:227944241..227947517,4	MCF-7	breast:
13	chr1:227921116..227923050-chr1:228289460..228292114,2	MCF-7	breast:
14	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:

No data

Variant related genes	Relation type
SNAP47	TF binding region
JMJD4	TF binding region
SNAP47	CpG island
JMJD4	CpG island
ENSG00000198835	chromatin interactions
ENSG00000181450	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000230005	chromatin interactions
ENSG00000114353	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000124783	chromatin interactions
ENSG00000143816	chromatin interactions
ENSG00000143740	chromatin interactions
ENSG00000044090	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555289027	chr1:227919431-227919432	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs117402061	chr1:227919448-227919449	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs75661503	chr1:227919466-227919467	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs556183775	chr1:227919476-227919477	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs61826976	chr1:227919500-227919501	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545070023	chr1:227919568-227919569	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560168673	chr1:227919592-227919593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs573613279	chr1:227919623-227919624	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs369104359	chr1:227919669-227919670	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs562163555	chr1:227919690-227919691	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs550803634	chr1:227919691-227919692	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs562692046	chr1:227919729-227919730	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs535333733	chr1:227919777-227919778	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs150014478	chr1:227919791-227919792	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs551397670	chr1:227919805-227919806	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs548905685	chr1:227919820-227919821	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs568668594	chr1:227919826-227919827	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs376425822	chr1:227919855-227919856	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs537608190	chr1:227919893-227919894	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs533865821	chr1:227919924-227919925	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs549214992	chr1:227919928-227919929	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs189409794	chr1:227919938-227919939	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs538085389	chr1:227919959-227919960	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs556080543	chr1:227919966-227919967	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs145226245	chr1:227919985-227919986	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs74365220	chr1:227920013-227920014	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs112127815	chr1:227920016-227920017	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs572040900	chr1:227920028-227920029	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs528580525	chr1:227920041-227920042	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs374922589	chr1:227920048-227920049	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs1060295	chr1:227920061-227920062	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs371205025	chr1:227920069-227920070	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs375100252	chr1:227920084-227920085	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs374619250	chr1:227920085-227920086	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs574239761	chr1:227920089-227920090	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs569265518	chr1:227920095-227920096	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs368092354	chr1:227920096-227920097	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs3087908	chr1:227920103-227920104	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs192897240	chr1:227920128-227920129	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs200154371	chr1:227920136-227920137	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs546737411	chr1:227920138-227920139	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs137911301	chr1:227920162-227920163	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs370895087	chr1:227920163-227920164	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs184539341	chr1:227920165-227920166	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs35575794	chr1:227920186-227920187	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
46	rs566082278	chr1:227920189-227920190	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs202108503	chr1:227920194-227920195	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs201553155	chr1:227920196-227920197	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs368349932	chr1:227920200-227920201	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs751747	chr1:227920218-227920219	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227916600-227919600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:227916800-227919400	Weak transcription	Aorta	Aorta
3	chr1:227916800-227919400	Weak transcription	Osteobl	bone
4	chr1:227916800-227921600	Weak transcription	HUVEC	blood vessel
5	chr1:227917000-227919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:227917000-227921000	Weak transcription	Hela-S3	cervix
7	chr1:227917000-227921800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:227917000-227921800	Weak transcription	Psoas Muscle	Psoas
9	chr1:227917200-227919600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:227917200-227920400	Genic enhancers	Spleen	Spleen
11	chr1:227917200-227921400	Weak transcription	Fetal Brain Male	brain
12	chr1:227917200-227921400	Weak transcription	NH-A	brain
13	chr1:227917200-227921600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:227917200-227921600	Weak transcription	Stomach Mucosa	stomach
15	chr1:227917200-227922000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:227917400-227919600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:227917400-227919600	Weak transcription	GM12878-XiMat	blood
18	chr1:227917400-227921400	Weak transcription	Primary B cells from cord blood	blood
19	chr1:227917400-227921400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:227917600-227919400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:227917600-227919400	Enhancers	Liver	Liver
22	chr1:227917600-227919600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:227917600-227921400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:227917800-227919400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:227917800-227920200	Strong transcription	Fetal Brain Female	brain
26	chr1:227917800-227921400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:227918000-227919400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:227918000-227920000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:227918000-227921600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:227918200-227919600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:227918200-227919800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:227918200-227921200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:227918200-227921800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr1:227918400-227919600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:227918400-227919800	Strong transcription	Dnd41	blood
36	chr1:227918400-227921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:227918400-227921200	Strong transcription	Fetal Stomach	stomach
38	chr1:227918400-227921200	Strong transcription	Thymus	Thymus
39	chr1:227918400-227921800	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr1:227918400-227922000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:227918600-227919400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:227918600-227919400	Enhancers	HepG2	liver
43	chr1:227918600-227919600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:227918600-227920400	Weak transcription	NHDF-Ad	bronchial
45	chr1:227918600-227920600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:227918600-227921000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:227918600-227921000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:227918600-227921000	Strong transcription	Esophagus	oesophagus
49	chr1:227918600-227921200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:227918600-227921200	Strong transcription	HSMMtube	muscle

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