Variant report

Variant	esv2757121
Chromosome Location	chr5:95304236-95539536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2570)
CpG islands
(count:793)
Chromatin interactive
region (count:109)
LncRNA
region (count:6)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2570 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:95523195-95523769	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:95384538-95384656	K562	blood:	n/a	n/a
3	ARID3A	chr5:95351898-95352274	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:95359091-95359108	K562	blood:	n/a	n/a
5	ARID3A	chr5:95312516-95312519	K562	blood:	n/a	n/a
6	ARID3A	chr5:95353956-95354116	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:95305457-95306518	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:95479293-95479368	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:95535336-95536476	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:95352030-95352315	K562	blood:	n/a	n/a
11	ARID3A	chr5:95322539-95323277	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:95332827-95333432	HepG2	liver:	n/a	n/a
13	ARID3A	chr5:95304820-95305082	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:95309759-95310130	K562	blood:	n/a	n/a
15	ARID3A	chr5:95446244-95446308	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:95323723-95325371	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:95330369-95330382	HepG2	liver:	n/a	n/a
18	ARID3A	chr5:95531796-95532242	HepG2	liver:	n/a	n/a
19	ARID3A	chr5:95372942-95373299	HepG2	liver:	n/a	n/a
20	ARID3A	chr5:95477626-95477778	HepG2	liver:	n/a	n/a
21	ARID3A	chr5:95450977-95451416	HepG2	liver:	n/a	n/a
22	ARID3A	chr5:95453250-95454488	HepG2	liver:	n/a	n/a
23	ARID3A	chr5:95336842-95337451	HepG2	liver:	n/a	n/a
24	ARID3A	chr5:95459129-95459483	HepG2	liver:	n/a	n/a
25	ARID3A	chr5:95463873-95464025	HepG2	liver:	n/a	n/a
26	ARID3A	chr5:95460475-95462181	HepG2	liver:	n/a	n/a
27	ATF1	chr5:95309713-95310085	K562	blood:	n/a	n/a
28	ATF1	chr5:95450456-95450654	K562	blood:	n/a	n/a
29	ATF1	chr5:95515236-95515349	K562	blood:	n/a	n/a
30	ATF1	chr5:95353678-95353980	K562	blood:	n/a	n/a
31	ATF1	chr5:95352046-95352289	K562	blood:	n/a	n/a
32	ATF2	chr5:95512965-95513671	GM12878	blood:	n/a	n/a
33	ATF2	chr5:95309494-95310141	GM12878	blood:	n/a	n/a
34	ATF2	chr5:95309443-95310129	GM12878	blood:	n/a	n/a
35	ATF2	chr5:95513034-95513668	GM12878	blood:	n/a	n/a
36	ATF3	chr5:95309688-95310102	K562	blood:	n/a	n/a
37	BACH1	chr5:95484845-95484924	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:95482319-95482767	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr5:95332618-95332880	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr5:95403879-95404090	K562	blood:	n/a	chr5:95403900-95403914
41	BACH1	chr5:95419522-95419564	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr5:95403155-95403208	K562	blood:	n/a	n/a
43	BATF	chr5:95513032-95513607	GM12878	blood:	n/a	chr5:95513318-95513329
44	BATF	chr5:95513119-95513616	GM12878	blood:	n/a	chr5:95513318-95513329
45	BATF	chr5:95482292-95482699	GM12878	blood:	n/a	n/a
46	BATF	chr5:95482332-95482656	GM12878	blood:	n/a	n/a
47	BATF	chr5:95309646-95310048	GM12878	blood:	n/a	n/a
48	BATF	chr5:95309551-95310064	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:95479996-95480249	H1-hESC	embryonic stem cell:	n/a	n/a
50	BCL11A	chr5:95419203-95419420	H1-hESC	embryonic stem cell:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95478736-95478786	HRCEpiC	kidney:	n/a
2	chr5:95514729-95514779	AG09319	gingival:	n/a
3	chr5:95480573-95480623	PANC-1	pancreas:	n/a
4	chr5:95409135-95409185	NHBE	bronchial:	n/a
5	chr5:95321963-95322013	AG09319	gingival:	n/a
6	chr5:95321963-95322013	Hepatocyte	liver:	n/a
7	chr5:95409135-95409185	BJ	skin:	n/a
8	chr5:95321963-95322013	SK-N-SH_RA	brain:	n/a
9	chr5:95514729-95514779	HRPEpiC	eye:	n/a
10	chr5:95509647-95509697	HRE	kidney:	n/a
11	chr5:95419503-95419553	HCM	heart:	n/a
12	chr5:95454156-95454206	HMEC	breast:	n/a
13	chr5:95509647-95509697	SAEC	small airway:	n/a
14	chr5:95321963-95322013	ovcar-3	ovarian:	n/a
15	chr5:95454156-95454206	BJ	skin:	n/a
16	chr5:95419503-95419553	AG04450	lung:	fetal
17	chr5:95478736-95478786	AG09319	gingival:	n/a
18	chr5:95454156-95454206	GM12892	blood:	n/a
19	chr5:95454156-95454206	HL-60	blood:	n/a
20	chr5:95454156-95454206	HUVEC	blood vessel:	n/a
21	chr5:95419503-95419553	AG10803	skin:	n/a
22	chr5:95413871-95413921	AG04450	lung:	fetal
23	chr5:95480573-95480623	AoSMC	blood vessel:	n/a
24	chr5:95478736-95478786	PFSK-1	brain:	n/a
25	chr5:95413871-95413921	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:95480573-95480623	AG09319	gingival:	n/a
27	chr5:95419503-95419553	HIPEpiC	eye:	n/a
28	chr5:95469201-95469251	HRCEpiC	kidney:	n/a
29	chr5:95509647-95509697	HCF	heart:	n/a
30	chr5:95409135-95409185	SKMC	muscle:	n/a
31	chr5:95409135-95409185	PrEC	prostate:	n/a
32	chr5:95514729-95514779	Caco-2	colon:	n/a
33	chr5:95454156-95454206	GM19239	blood:	n/a
34	chr5:95321963-95322013	Hela-S3	cervix:	n/a
35	chr5:95413861-95413911	HAEpiC	amniotic membrane:	n/a
36	chr5:95419503-95419553	NHDF-neo	bronchial:	n/a
37	chr5:95409135-95409185	Hela-S3	cervix:	n/a
38	chr5:95480573-95480623	SK-N-MC	brain:	n/a
39	chr5:95478736-95478786	HepG2	liver:	n/a
40	chr5:95419503-95419553	HMEC	breast:	n/a
41	chr5:95310237-95310287	HL-60	blood:	n/a
42	chr5:95480573-95480623	MCF-7	breast:	n/a
43	chr5:95310237-95310287	HRE	kidney:	n/a
44	chr5:95478736-95478786	HCF	heart:	n/a
45	chr5:95480573-95480623	AG10803	skin:	n/a
46	chr5:95480573-95480623	NT2-D1	testis:	n/a
47	chr5:95469201-95469251	Hela-S3	cervix:	n/a
48	chr5:95413861-95413911	NHDF-neo	bronchial:	n/a
49	chr5:95469201-95469251	HRPEpiC	eye:	n/a
50	chr5:95454156-95454206	HepG2	liver:	n/a

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:95328505..95331232-chr5:95332077..95333739,2	K562	blood:
2	chr5:95448479..95450941-chr5:95454659..95457285,2	MCF-7	breast:
3	chr5:95462184..95464791-chr5:95469222..95471712,2	K562	blood:
4	chr5:95330891..95333849-chr5:95334417..95336264,2	K562	blood:
5	chr5:95360554..95363561-chr5:95366063..95368612,3	K562	blood:
6	chr5:95297972..95300750-chr5:95328029..95330073,2	K562	blood:
7	chr5:95304291..95306265-chr5:95309546..95312179,2	K562	blood:
8	chr5:95334613..95336349-chr5:95402257..95404926,2	K562	blood:
9	chr5:95384364..95386228-chr5:95387078..95389044,2	K562	blood:
10	chr5:95295813..95297730-chr5:95509691..95513158,3	MCF-7	breast:
11	chr5:95351011..95353911-chr5:95402617..95404215,2	K562	blood:
12	chr5:95372818..95374675-chr5:95378795..95380652,2	MCF-7	breast:
13	chr5:95514396..95516278-chr5:95516334..95518457,2	MCF-7	breast:
14	chr5:95360554..95363561-chr5:95366063..95368612,3	K562	blood:
15	chr5:95295944..95298185-chr5:95343206..95345084,2	K562	blood:
16	chr5:95390171..95391884-chr5:95392902..95395243,2	K562	blood:
17	chr5:95327677..95330005-chr5:95332077..95333718,2	K562	blood:
18	chr5:95359766..95362858-chr5:95371780..95373834,3	MCF-7	breast:
19	chr5:95416575..95419199-chr5:95425271..95427989,2	K562	blood:
20	chr5:95296290..95298423-chr5:95423602..95425943,2	MCF-7	breast:
21	chr5:95362269..95364371-chr5:95402115..95403817,2	K562	blood:
22	chr5:95359766..95362858-chr5:95371780..95373834,3	MCF-7	breast:
23	chr5:95399534..95401780-chr5:95407826..95410205,2	K562	blood:
24	chr5:95351011..95353911-chr5:95402617..95404215,2	K562	blood:
25	chr5:95471926..95473645-chr5:95473924..95476459,2	K562	blood:
26	chr5:95462184..95464791-chr5:95469222..95471712,2	K562	blood:
27	chr5:95384196..95387378-chr5:95390090..95391967,3	K562	blood:
28	chr5:95416575..95419199-chr5:95425271..95427989,2	K562	blood:
29	chr5:95295795..95298001-chr5:95305862..95309802,3	MCF-7	breast:
30	chr5:95471926..95474229-chr5:95474959..95477676,2	K562	blood:
31	chr5:95372818..95374675-chr5:95378795..95380652,2	MCF-7	breast:
32	chr5:95331250..95333197-chr5:95339157..95340673,2	K562	blood:
33	chr5:95406044..95407989-chr5:95410489..95412810,2	K562	blood:
34	chr5:95362269..95364371-chr5:95402115..95403817,2	K562	blood:
35	chr5:95296231..95298202-chr5:95371056..95372848,2	MCF-7	breast:
36	chr5:95295655..95298675-chr5:95421963..95424725,3	MCF-7	breast:
37	chr5:95304291..95306265-chr5:95309546..95312179,2	K562	blood:
38	chr5:95262626..95265334-chr5:95402014..95404790,2	K562	blood:
39	chr5:95471926..95474229-chr5:95474959..95477676,2	K562	blood:
40	chr5:95403553..95405838-chr5:95406923..95410499,3	K562	blood:
41	chr5:95525860..95527522-chr5:95528640..95530648,2	K562	blood:
42	chr5:95309496..95312774-chr5:95317440..95321403,4	K562	blood:
43	chr5:95295987..95299495-chr5:95427071..95430521,5	MCF-7	breast:
44	chr5:95296910..95298799-chr5:95356285..95359042,2	K562	blood:
45	chr5:95473116..95474627-chr5:95485772..95487685,2	MCF-7	breast:
46	chr11:64013141..64015957-chr5:95386899..95388399,2	MCF-7	breast:
47	chr5:95471926..95473645-chr5:95473924..95476459,2	K562	blood:
48	chr5:95322628..95324639-chr5:95325581..95328091,2	K562	blood:
49	chr5:95268077..95269800-chr5:95402716..95405377,2	K562	blood:
50	chr5:95192803..95195845-chr5:95402156..95405628,4	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELL2-1	chr5:95316041-95316231	ENSG00000250955.1
2	lnc-ELL2-1	chr5:95305926-95306000	ENSG00000250955.1
3	lnc-C5orf27-3	chr5:95446638-95446709	ENSG00000250551
4	lnc-ELL2-2	chr5:95338604-95339260	NONHSAT102881
5	lnc-C5orf27-3	chr5:95385819-95385905	ENSG00000250551
6	lnc-ELL2-1	chr5:95321964-95322015	ENSG00000250955.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-583	chr5:95414857-95414877	MIMAT0003248

No data

Variant related genes	Relation type
FABP5P5	TF binding region
MIR583	TF binding region
ENSG00000250551	TF binding region
ENSG00000250955	TF binding region
FABP5P5	CpG island
MIR583	CpG island
ENSG00000250551	CpG island
ENSG00000250955	CpG island
ENSG00000256940	chromatin interactions
ENSG00000250551	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000118985	chromatin interactions
ENSG00000250955	chromatin interactions
ENSG00000207578	chromatin interactions
ENSG00000251314	chromatin interactions

Extended variants
information (count: 7825 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:7825 , 50 per page) page: 1 2 3 4 5 6 7 ... 157

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs977129	chr5:95304236-95304237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550933535	chr5:95304265-95304266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144450194	chr5:95304266-95304267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148477588	chr5:95304267-95304268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552848037	chr5:95304269-95304270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188942922	chr5:95304272-95304273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566574474	chr5:95304311-95304312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553906617	chr5:95304364-95304365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535175508	chr5:95304479-95304480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555025682	chr5:95304483-95304484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182971063	chr5:95304492-95304493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543797713	chr5:95304493-95304494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187173905	chr5:95304513-95304514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577418509	chr5:95304531-95304532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546389563	chr5:95304589-95304590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35386712	chr5:95304590-95304591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374535840	chr5:95304602-95304603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528662231	chr5:95304617-95304618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184384120	chr5:95304741-95304742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187528324	chr5:95304780-95304781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193226386	chr5:95304793-95304794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115764058	chr5:95304799-95304800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185616352	chr5:95304800-95304801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376931285	chr5:95304801-95304802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533042417	chr5:95304825-95304826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79327406	chr5:95304886-95304887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566580011	chr5:95304939-95304940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143759139	chr5:95304943-95304944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555086035	chr5:95304962-95304963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568610317	chr5:95304980-95304981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537452222	chr5:95305003-95305004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190747323	chr5:95305031-95305032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192301205	chr5:95305042-95305043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184641293	chr5:95305051-95305052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553613382	chr5:95305078-95305079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34162910	chr5:95305107-95305108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78521522	chr5:95305165-95305166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147191664	chr5:95305182-95305183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117732791	chr5:95305239-95305240	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188383129	chr5:95305283-95305284	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544632195	chr5:95305287-95305288	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564293945	chr5:95305298-95305299	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140550154	chr5:95305308-95305309	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546614143	chr5:95305309-95305310	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566752329	chr5:95305366-95305367	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529126410	chr5:95305370-95305371	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371113152	chr5:95305445-95305446	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181205478	chr5:95305478-95305479	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs77086275	chr5:95305495-95305496	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542837577	chr5:95305519-95305520	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:2499 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298400-95309200	Weak transcription	NHLF	lung
2	chr5:95298600-95305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:95298600-95305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
5	chr5:95299600-95309000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95300000-95308600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:95302600-95305200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:95302600-95305200	Weak transcription	Liver	Liver
9	chr5:95302800-95309000	Weak transcription	Stomach Mucosa	stomach
10	chr5:95303400-95304600	Weak transcription	Fetal Intestine Large	intestine
11	chr5:95303400-95304600	Weak transcription	Fetal Intestine Small	intestine
12	chr5:95304200-95305200	Enhancers	HepG2	liver
13	chr5:95304600-95305200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:95304600-95305200	Enhancers	Fetal Intestine Small	intestine
15	chr5:95304800-95306800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:95305000-95306000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:95305000-95306000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:95305000-95306200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:95305000-95306200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:95305200-95305400	Enhancers	Fetal Intestine Large	intestine
21	chr5:95305200-95305600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:95305200-95305800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:95305200-95305800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:95305200-95306000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:95305200-95306000	Enhancers	Osteobl	bone
26	chr5:95305200-95306400	Enhancers	Liver	Liver
27	chr5:95305200-95306400	Flanking Active TSS	HepG2	liver
28	chr5:95305200-95310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:95305600-95305800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:95305800-95306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:95305800-95309200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:95306000-95309000	Weak transcription	Osteobl	bone
33	chr5:95306000-95309400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:95306400-95306600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:95306400-95307400	Enhancers	HepG2	liver
36	chr5:95307400-95318800	Weak transcription	HepG2	liver
37	chr5:95307600-95307800	Enhancers	Left Ventricle	heart
38	chr5:95307800-95309600	Weak transcription	Left Ventricle	heart
39	chr5:95308000-95309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:95308800-95309600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:95308800-95311800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:95309000-95309400	Enhancers	Primary hematopoietic stem cells	blood
43	chr5:95309000-95310000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:95309000-95310000	Enhancers	Lung	lung
45	chr5:95309000-95310000	Enhancers	Stomach Mucosa	stomach
46	chr5:95309000-95310400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:95309000-95310400	Enhancers	Osteobl	bone
48	chr5:95309000-95310800	Enhancers	GM12878-XiMat	blood
49	chr5:95309000-95311000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:95309000-95312000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links