Variant report

Variant	esv1795181
Chromosome Location	chr4:48686817-48764009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:694)
CpG islands
(count:123)
Chromatin interactive
region (count:43)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:48700373-48700768	K562	blood:	n/a	n/a
2	ARID3A	chr4:48701999-48702183	K562	blood:	n/a	n/a
3	ARID3A	chr4:48741003-48741162	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:48728717-48728995	K562	blood:	n/a	n/a
5	ARID3A	chr4:48720801-48721430	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:48689608-48689783	K562	blood:	n/a	n/a
7	ARID3A	chr4:48731313-48731501	K562	blood:	n/a	n/a
8	ARID3A	chr4:48742647-48743070	K562	blood:	n/a	n/a
9	ARID3A	chr4:48741537-48742064	K562	blood:	n/a	n/a
10	ATF1	chr4:48740483-48740490	K562	blood:	n/a	n/a
11	ATF1	chr4:48702001-48702239	K562	blood:	n/a	n/a
12	ATF1	chr4:48741571-48741881	K562	blood:	n/a	n/a
13	ATF1	chr4:48700313-48700663	K562	blood:	n/a	n/a
14	BACH1	chr4:48728776-48728924	K562	blood:	n/a	chr4:48728786-48728800
15	BACH1	chr4:48701513-48701752	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:48748891-48748969	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:48728060-48728250	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:48728808-48728887	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:48691034-48691195	K562	blood:	n/a	n/a
20	BACH1	chr4:48691147-48691178	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr4:48741561-48741867	GM12878	blood:	n/a	n/a
22	BATF	chr4:48744489-48744704	GM12878	blood:	n/a	n/a
23	BATF	chr4:48701979-48702197	GM12878	blood:	n/a	n/a
24	BATF	chr4:48758844-48759162	GM12878	blood:	n/a	n/a
25	BATF	chr4:48744530-48744776	GM12878	blood:	n/a	n/a
26	BCL3	chr4:48708896-48709192	GM12878	blood:	n/a	n/a
27	BHLHE40	chr4:48763298-48763414	K562	blood:	n/a	n/a
28	BHLHE40	chr4:48741581-48741923	K562	blood:	n/a	n/a
29	BHLHE40	chr4:48700244-48700670	K562	blood:	n/a	n/a
30	BHLHE40	chr4:48752974-48753181	GM12878	blood:	n/a	n/a
31	BRCA1	chr4:48700270-48700894	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr4:48741497-48741854	K562	blood:	n/a	n/a
33	CBX3	chr4:48728627-48728964	HCT-116	colon:	n/a	n/a
34	CBX3	chr4:48731051-48731661	K562	blood:	n/a	n/a
35	CCNT2	chr4:48742759-48742994	K562	blood:	n/a	n/a
36	CCNT2	chr4:48700302-48700990	K562	blood:	n/a	chr4:48700818-48700827 chr4:48700823-48700832
37	CCNT2	chr4:48741579-48741970	K562	blood:	n/a	n/a
38	CEBPB	chr4:48701454-48701818	IMR90	lung:	n/a	chr4:48701627-48701638 chr4:48701627-48701636 chr4:48701625-48701636
39	CEBPB	chr4:48696222-48696535	MCF-7	breast:	n/a	chr4:48696370-48696381
40	CEBPB	chr4:48701446-48702303	Hela-S3	cervix:	n/a	chr4:48701627-48701638 chr4:48701627-48701636 chr4:48701625-48701636
41	CEBPB	chr4:48758789-48759069	MCF-7	breast:	n/a	chr4:48758915-48758926
42	CEBPB	chr4:48696293-48696473	HepG2	liver:	n/a	chr4:48696370-48696381
43	CEBPB	chr4:48700306-48700651	HepG2	liver:	n/a	chr4:48700437-48700445
44	CEBPB	chr4:48708505-48708728	K562	blood:	n/a	chr4:48708587-48708598
45	CEBPB	chr4:48719537-48719749	A549	lung:	n/a	chr4:48719613-48719624
46	CEBPB	chr4:48696219-48696539	IMR90	lung:	n/a	chr4:48696370-48696381
47	CEBPB	chr4:48703257-48703597	IMR90	lung:	n/a	n/a
48	CEBPB	chr4:48700292-48700776	A549	lung:	n/a	chr4:48700437-48700445
49	CEBPB	chr4:48701348-48702385	HCT-116	colon:	n/a	chr4:48701627-48701638 chr4:48701627-48701636 chr4:48701625-48701636
50	CEBPB	chr4:48701473-48701816	HepG2	liver:	n/a	chr4:48701627-48701638 chr4:48701627-48701636 chr4:48701625-48701636

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48754953-48755003	HRE	kidney:	n/a
2	chr4:48754953-48755003	HRE	kidney:	n/a
3	chr4:48695242-48695292	AG09319	gingival:	n/a
4	chr4:48754953-48755003	GM06990	blood:	n/a
5	chr4:48754953-48755003	SK-N-SH_RA	brain:	n/a
6	chr4:48695242-48695292	HCM	heart:	n/a
7	chr4:48695242-48695292	SK-N-MC	brain:	n/a
8	chr4:48695242-48695292	BE2_C	brain:	n/a
9	chr4:48695242-48695292	HCT-116	colon:	n/a
10	chr4:48754953-48755003	HEK293	kidney:	embryo
11	chr4:48695242-48695292	GM19239	blood:	n/a
12	chr4:48754953-48755003	GM19239	blood:	n/a
13	chr4:48754953-48755003	HCT-116	colon:	n/a
14	chr4:48754953-48755003	BJ	skin:	n/a
15	chr4:48695242-48695292	NB4	blood:	n/a
16	chr4:48754953-48755003	IMR90	lung:	fetal
17	chr4:48695242-48695292	PANC-1	pancreas:	n/a
18	chr4:48695242-48695292	HRE	kidney:	n/a
19	chr4:48754953-48755003	HMEC	breast:	n/a
20	chr4:48754953-48755003	T-47D	breast:	n/a
21	chr4:48754953-48755003	SK-N-SH	brain:	n/a
22	chr4:48754953-48755003	K562	blood:	n/a
23	chr4:48754953-48755003	AG09319	gingival:	n/a
24	chr4:48754953-48755003	RPTEC	kidney:	n/a
25	chr4:48695242-48695292	A549	lung:	n/a
26	chr4:48754953-48755003	Hela-S3	cervix:	n/a
27	chr4:48695242-48695292	MCF10A-Er-Src	breast:	n/a
28	chr4:48695242-48695292	PrEC	prostate:	n/a
29	chr4:48695242-48695292	T-47D	breast:	n/a
30	chr4:48695242-48695292	HRPEpiC	eye:	n/a
31	chr4:48754953-48755003	NH-A	brain:	n/a
32	chr4:48754953-48755003	HRPEpiC	eye:	n/a
33	chr4:48754953-48755003	AG09309	skin:	n/a
34	chr4:48754953-48755003	SKMC	muscle:	n/a
35	chr4:48695242-48695292	NH-A	brain:	n/a
36	chr4:48754953-48755003	ProgFib	skin:	n/a
37	chr4:48754953-48755003	SAEC	small airway:	n/a
38	chr4:48695242-48695292	Jurkat	blood:	n/a
39	chr4:48754953-48755003	HL-60	blood:	n/a
40	chr4:48695242-48695292	ECC-1	luminal epithelium:	n/a
41	chr4:48754953-48755003	U87	brain:	n/a
42	chr4:48754953-48755003	GM12892	blood:	n/a
43	chr4:48754953-48755003	HepG2	liver:	n/a
44	chr4:48695242-48695292	HRCEpiC	kidney:	n/a
45	chr4:48695242-48695292	MCF-7	breast:	n/a
46	chr4:48754953-48755003	AG04449	skin:	fetal
47	chr4:48754953-48755003	AG10803	skin:	n/a
48	chr4:48754953-48755003	BE2_C	brain:	n/a
49	chr4:48695242-48695292	U87	brain:	n/a
50	chr4:48754953-48755003	Jurkat	blood:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48699629..48702108-chr4:48781751..48783665,2	MCF-7	breast:
2	chr4:48725723..48728772-chr4:48781699..48784072,3	MCF-7	breast:
3	chr4:48691449..48693997-chr4:48694724..48696610,2	MCF-7	breast:
4	chr4:48682524..48684809-chr4:48686998..48690088,3	K562	blood:
5	chr4:48687679..48689776-chr4:48780606..48783183,3	MCF-7	breast:
6	chr4:48685624..48689755-chr4:48691004..48694286,4	K562	blood:
7	chr4:48691449..48693997-chr4:48694724..48696610,2	MCF-7	breast:
8	chr4:48753245..48755972-chr4:48780060..48782749,2	MCF-7	breast:
9	chr4:48687862..48689667-chr4:48836444..48838166,2	MCF-7	breast:
10	chr4:48700525..48703151-chr4:48906796..48908721,2	MCF-7	breast:
11	chr4:48685624..48689755-chr4:48691004..48694286,4	K562	blood:
12	chr4:48699623..48702132-chr4:48702246..48705129,3	K562	blood:
13	chr4:48685998..48688837-chr4:48699802..48703602,5	K562	blood:
14	chr4:48699623..48702132-chr4:48702246..48705129,3	K562	blood:
15	chr4:48749888..48752045-chr4:48754340..48756455,2	K562	blood:
16	chr4:48689702..48692594-chr4:48697555..48699219,2	K562	blood:
17	chr4:48722783..48724508-chr4:48831559..48833358,2	MCF-7	breast:
18	chr4:48749888..48752045-chr4:48754340..48756455,2	K562	blood:
19	chr4:48751207..48753110-chr4:48754694..48756381,2	MCF-7	breast:
20	chr4:48737815..48740027-chr4:48780633..48782409,2	MCF-7	breast:
21	chr4:48720217..48721926-chr4:48727442..48730398,2	MCF-7	breast:
22	chr4:48702489..48705093-chr4:48707646..48709743,2	MCF-7	breast:
23	chr4:48700621..48702937-chr4:48705459..48707096,2	MCF-7	breast:
24	chr4:48683077..48685040-chr4:48687843..48689972,2	K562	blood:
25	chr4:48699623..48702132-chr4:48702246..48704804,2	K562	blood:
26	chr4:48756947..48759205-chr4:48760988..48763771,2	MCF-7	breast:
27	chr4:48682494..48684841-chr4:48693088..48695162,2	K562	blood:
28	chr4:48691459..48694072-chr4:48776269..48778861,2	K562	blood:
29	chr4:48700621..48702937-chr4:48705459..48707096,2	MCF-7	breast:
30	chr4:48756947..48759205-chr4:48760988..48763771,2	MCF-7	breast:
31	chr4:48751207..48753110-chr4:48754694..48756381,2	MCF-7	breast:
32	chr4:48750427..48752045-chr4:48754955..48756495,2	K562	blood:
33	chr4:48684102..48685627-chr4:48698753..48700458,2	K562	blood:
34	chr4:48763131..48767010-chr4:48780042..48783198,3	K562	blood:
35	chr4:48750427..48752045-chr4:48754955..48756495,2	K562	blood:
36	chr4:48689938..48695241-chr4:48778784..48782766,5	MCF-7	breast:
37	chr4:48686253..48688123-chr4:48780643..48783214,2	MCF-7	breast:
38	chr4:48720217..48721926-chr4:48727442..48730398,2	MCF-7	breast:
39	chr4:48746546..48749317-chr4:48834031..48835783,2	K562	blood:
40	chr4:48702489..48705093-chr4:48707646..48709743,2	MCF-7	breast:
41	chr4:48699623..48702132-chr4:48702246..48704804,2	K562	blood:
42	chr4:48689702..48692594-chr4:48697555..48699219,2	K562	blood:
43	chr4:48685998..48688837-chr4:48699802..48703602,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OCIAD2-3	chr4:48729448-48729508	NONHSAT096293
2	lnc-OCIAD2-3	chr4:48712536-48712715	NONHSAT096290
3	lnc-OCIAD2-3	chr4:48712536-48712715	NONHSAT096293

No data

Variant related genes	Relation type
FRYL	TF binding region
FRYL	CpG island
ENSG00000075539	chromatin interactions
ENSG00000109180	chromatin interactions

Extended variants
information (count: 2688 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2688 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10049760	chr4:48686817-48686818	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530425518	chr4:48686840-48686841	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556803952	chr4:48686867-48686868	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374119835	chr4:48686869-48686870	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189470144	chr4:48686905-48686906	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10049761	chr4:48686957-48686958	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs181072841	chr4:48686976-48686977	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375149724	chr4:48687056-48687057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185400388	chr4:48687086-48687087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540167021	chr4:48687089-48687090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190210537	chr4:48687118-48687119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148315740	chr4:48687152-48687153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182869318	chr4:48687228-48687229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547043656	chr4:48687255-48687256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1996422	chr4:48687351-48687352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574105560	chr4:48687396-48687397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534791629	chr4:48687472-48687473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553171595	chr4:48687512-48687513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577756697	chr4:48687517-48687518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544754176	chr4:48687549-48687550	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545472223	chr4:48687550-48687551	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575163733	chr4:48687631-48687632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187127234	chr4:48687641-48687642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560527593	chr4:48687671-48687672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528225827	chr4:48687722-48687723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576722865	chr4:48687737-48687738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546369015	chr4:48687739-48687740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559944952	chr4:48687740-48687741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559426451	chr4:48687794-48687795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533365741	chr4:48687815-48687816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551964366	chr4:48687820-48687821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572695438	chr4:48687834-48687835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191813764	chr4:48687863-48687864	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570010673	chr4:48687864-48687865	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549430939	chr4:48687874-48687875	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567542109	chr4:48687898-48687899	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184052722	chr4:48687919-48687920	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537340880	chr4:48687990-48687991	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553193212	chr4:48687998-48687999	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs578013871	chr4:48688006-48688007	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538459635	chr4:48688014-48688015	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556712868	chr4:48688056-48688057	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575188682	chr4:48688103-48688104	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555304670	chr4:48688129-48688130	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367621491	chr4:48688184-48688185	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546063958	chr4:48688339-48688340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371501106	chr4:48688369-48688370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187517401	chr4:48688385-48688386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540181042	chr4:48688386-48688387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564838620	chr4:48688422-48688423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:2211 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
3	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:48663600-48700200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:48668200-48688000	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:48668200-48689400	Weak transcription	HSMM	muscle
7	chr4:48670000-48691000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:48670200-48700000	Weak transcription	Esophagus	oesophagus
9	chr4:48670200-48702000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:48670200-48702000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:48670400-48696000	Weak transcription	Left Ventricle	heart
12	chr4:48671200-48688600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:48671400-48696000	Weak transcription	Right Ventricle	heart
14	chr4:48674800-48689600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:48674800-48689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:48675000-48688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:48679000-48700000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:48680200-48692800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:48680600-48699600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:48683200-48688600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:48683200-48691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:48683400-48689600	Weak transcription	Primary T cells from cord blood	blood
23	chr4:48683400-48699600	Weak transcription	Psoas Muscle	Psoas
24	chr4:48683600-48692400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:48683600-48700000	Weak transcription	Fetal Intestine Large	intestine
26	chr4:48683600-48700400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:48683800-48688800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:48684000-48688400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:48684000-48690400	Weak transcription	Liver	Liver
30	chr4:48684000-48698400	Weak transcription	NHEK	skin
31	chr4:48684200-48695400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:48685000-48688600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:48685000-48700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:48685200-48688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:48685200-48688600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:48685600-48687000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:48685600-48687000	Enhancers	Fetal Lung	lung
38	chr4:48685600-48687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:48685600-48687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:48685800-48687000	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:48685800-48687000	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:48685800-48687000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:48685800-48687000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:48685800-48687800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:48686000-48687000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:48686000-48687000	Enhancers	GM12878-XiMat	blood
47	chr4:48686200-48687000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr4:48686200-48687000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:48686400-48687000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:48686400-48687000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links