Variant report

Variant	nsv9802
Chromosome Location	chr2:55910254-55939253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:738)
CpG islands
(count:917)
Chromatin interactive
region (count:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55920674-55921347	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:55920973-55921350	K562	blood:	n/a	n/a
3	ATF1	chr2:55920842-55921225	K562	blood:	n/a	n/a
4	ATF2	chr2:55920700-55921352	GM12878	blood:	n/a	n/a
5	ATF2	chr2:55920708-55921249	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr2:55920613-55921267	A549	lung:	n/a	n/a
7	ATF3	chr2:55920763-55921385	A549	lung:	n/a	n/a
8	BCL3	chr2:55920594-55921316	A549	lung:	n/a	chr2:55921017-55921026
9	BCL3	chr2:55920529-55921291	A549	lung:	n/a	chr2:55921017-55921026
10	BCLAF1	chr2:55920670-55921264	GM12878	blood:	n/a	chr2:55921017-55921026
11	BCLAF1	chr2:55920680-55921228	GM12878	blood:	n/a	chr2:55921017-55921026
12	BHLHE40	chr2:55920705-55921206	K562	blood:	n/a	n/a
13	BHLHE40	chr2:55932472-55932647	HepG2	liver:	n/a	n/a
14	BHLHE40	chr2:55932430-55932719	K562	blood:	n/a	n/a
15	BHLHE40	chr2:55920674-55921168	HepG2	liver:	n/a	n/a
16	BHLHE40	chr2:55920736-55921304	GM12878	blood:	n/a	n/a
17	BRCA1	chr2:55920863-55921320	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr2:55920797-55921147	HepG2	liver:	n/a	n/a
19	CBX3	chr2:55920453-55921347	K562	blood:	n/a	n/a
20	CBX3	chr2:55920791-55921259	K562	blood:	n/a	n/a
21	CBX3	chr2:55920607-55921412	HCT-116	colon:	n/a	n/a
22	CCNT2	chr2:55920752-55921142	K562	blood:	n/a	n/a
23	CEBPB	chr2:55920648-55921368	ECC-1	luminal epithelium:	n/a	chr2:55920993-55921001
24	CEBPB	chr2:55920783-55921309	A549	lung:	n/a	chr2:55920993-55921001
25	CEBPB	chr2:55921038-55921179	K562	blood:	n/a	n/a
26	CEBPB	chr2:55926639-55926843	Hela-S3	cervix:	n/a	chr2:55926700-55926711
27	CEBPB	chr2:55926665-55926773	K562	blood:	n/a	chr2:55926700-55926711
28	CEBPB	chr2:55920708-55921294	HepG2	liver:	n/a	chr2:55920993-55921001
29	CEBPB	chr2:55926697-55926717	A549	lung:	n/a	chr2:55926700-55926711
30	CEBPB	chr2:55922752-55922867	A549	lung:	n/a	chr2:55922831-55922842
31	CEBPB	chr2:55926680-55926739	IMR90	lung:	n/a	chr2:55926700-55926711
32	CEBPB	chr2:55920861-55921278	A549	lung:	n/a	chr2:55920993-55921001
33	CEBPB	chr2:55920973-55921286	ECC-1	luminal epithelium:	n/a	chr2:55920993-55921001
34	CEBPB	chr2:55920919-55921293	H1-hESC	embryonic stem cell:	n/a	chr2:55920993-55921001
35	CEBPB	chr2:55920886-55921217	HepG2	liver:	n/a	chr2:55920993-55921001
36	CEBPB	chr2:55920781-55921268	MCF-7	breast:	n/a	chr2:55920993-55921001
37	CEBPB	chr2:55920770-55921334	Hela-S3	cervix:	n/a	chr2:55920993-55921001
38	CEBPB	chr2:55920885-55921311	HepG2	liver:	n/a	chr2:55920993-55921001
39	CEBPB	chr2:55922691-55922925	K562	blood:	n/a	chr2:55922831-55922842
40	CEBPB	chr2:55920825-55921289	K562	blood:	n/a	chr2:55920993-55921001
41	CEBPB	chr2:55920734-55921312	K562	blood:	n/a	chr2:55920993-55921001
42	CEBPB	chr2:55920656-55921443	A549	lung:	n/a	chr2:55920993-55921001
43	CEBPB	chr2:55920873-55921209	HepG2	liver:	n/a	chr2:55920993-55921001
44	CEBPB	chr2:55922763-55922888	H1-hESC	embryonic stem cell:	n/a	chr2:55922831-55922842
45	CEBPB	chr2:55926536-55926873	HepG2	liver:	n/a	chr2:55926700-55926711
46	CEBPB	chr2:55920755-55921304	IMR90	lung:	n/a	chr2:55920993-55921001
47	CEBPB	chr2:55922691-55922959	HepG2	liver:	n/a	chr2:55922831-55922842
48	CEBPD	chr2:55920734-55921134	HepG2	liver:	n/a	n/a
49	CEBPD	chr2:55920706-55921131	HepG2	liver:	n/a	n/a
50	CHD1	chr2:55919446-55919533	GM12878	blood:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55921863-55921913	SAEC	small airway:	n/a
2	chr2:55920932-55920982	AG09309	skin:	n/a
3	chr2:55921863-55921913	SAEC	small airway:	n/a
4	chr2:55920932-55920982	AG09309	skin:	n/a
5	chr2:55923768-55923818	HRPEpiC	eye:	n/a
6	chr2:55921045-55921095	K562	blood:	n/a
7	chr2:55916793-55916843	HL-60	blood:	n/a
8	chr2:55920613-55920663	SK-N-SH_RA	brain:	n/a
9	chr2:55923768-55923818	NT2-D1	testis:	n/a
10	chr2:55920564-55920614	BJ	skin:	n/a
11	chr2:55920932-55920982	SAEC	small airway:	n/a
12	chr2:55921863-55921913	NHDF-neo	bronchial:	n/a
13	chr2:55921061-55921111	AG04450	lung:	fetal
14	chr2:55921061-55921111	GM12892	blood:	n/a
15	chr2:55923768-55923818	H1-hESC	embryonic stem cell:	embryo
16	chr2:55921064-55921114	T-47D	breast:	n/a
17	chr2:55920477-55920527	HCT-116	colon:	n/a
18	chr2:55920564-55920614	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:55920781-55920831	SKMC	muscle:	n/a
20	chr2:55921045-55921095	Hela-S3	cervix:	n/a
21	chr2:55921094-55921144	HUVEC	blood vessel:	n/a
22	chr2:55916793-55916843	H1-hESC	embryonic stem cell:	embryo
23	chr2:55921061-55921111	RPTEC	kidney:	n/a
24	chr2:55921125-55921175	SK-N-MC	brain:	n/a
25	chr2:55916793-55916843	HCPEpiC	choroid plexus:	n/a
26	chr2:55921045-55921095	SAEC	small airway:	n/a
27	chr2:55920932-55920982	GM12891	blood:	n/a
28	chr2:55921094-55921144	HEEpiC	esophagus:	n/a
29	chr2:55919983-55920033	SKMC	muscle:	n/a
30	chr2:55920781-55920831	HL-60	blood:	n/a
31	chr2:55920564-55920614	HAEpiC	amniotic membrane:	n/a
32	chr2:55921863-55921913	A549	lung:	n/a
33	chr2:55921064-55921114	AG09309	skin:	n/a
34	chr2:55920613-55920663	SK-N-MC	brain:	n/a
35	chr2:55920613-55920663	RPTEC	kidney:	n/a
36	chr2:55920613-55920663	BE2_C	brain:	n/a
37	chr2:55920477-55920527	A549	lung:	n/a
38	chr2:55921125-55921175	NH-A	brain:	n/a
39	chr2:55921061-55921111	MCF10A-Er-Src	breast:	n/a
40	chr2:55921094-55921144	SK-N-SH_RA	brain:	n/a
41	chr2:55921072-55921122	HAEpiC	amniotic membrane:	n/a
42	chr2:55921064-55921114	H1-hESC	embryonic stem cell:	embryo
43	chr2:55920564-55920614	HMEC	breast:	n/a
44	chr2:55923768-55923818	HL-60	blood:	n/a
45	chr2:55916793-55916843	HEK293	kidney:	embryo
46	chr2:55921125-55921175	HCF	heart:	n/a
47	chr2:55920932-55920982	RPTEC	kidney:	n/a
48	chr2:55921072-55921122	AG09309	skin:	n/a
49	chr2:55920932-55920982	SK-N-SH_RA	brain:	n/a
50	chr2:55921863-55921913	Caco-2	colon:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55904255..55906446-chr2:55915981..55918234,2	K562	blood:
2	chr2:55907894..55910772-chr2:55917200..55919535,2	K562	blood:
3	chr2:55907894..55910772-chr2:55917200..55919535,2	K562	blood:
4	chr2:55890547..55892839-chr2:55908611..55911224,2	K562	blood:
5	chr2:55841795..55844862-chr2:55919047..55922552,3	K562	blood:
6	chr17:62222684..62223474-chr2:55920600..55921160,2	Hela-S3	cervix:
7	chr2:55912617..55915490-chr2:55920538..55922128,2	MCF-7	breast:
8	chr2:55876589..55879257-chr2:55911121..55913801,2	K562	blood:
9	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
10	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
11	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
12	chr2:55910372..55912674-chr2:55919514..55921035,2	MCF-7	breast:
13	chr2:55896512..55898874-chr2:55921554..55923085,2	K562	blood:
14	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
15	chr2:55915324..55917701-chr2:55918761..55921401,5	K562	blood:
16	chr2:55920465..55921094-chr7:5569393..5570095,2	Hela-S3	cervix:
17	chr2:55921422..55922945-chr2:55929842..55931481,2	K562	blood:
18	chr2:55929391..55931366-chr2:55933067..55934702,2	K562	blood:
19	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
20	chr2:55920582..55922485-chr2:56215430..56218121,2	K562	blood:
21	chr2:55919843..55923832-chr2:55924839..55929047,4	K562	blood:
22	chr2:55919933..55923832-chr2:55924839..55928648,5	K562	blood:
23	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
24	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
25	chr2:55901517..55904388-chr2:55919135..55920931,2	K562	blood:
26	chr2:55915939..55918877-chr2:55919426..55922860,4	MCF-7	breast:
27	chr2:55923895..55927237-chr2:55928589..55931342,3	K562	blood:
28	chr2:55917685..55919319-chr2:55933220..55935207,2	MCF-7	breast:
29	chr2:55923895..55927237-chr2:55928589..55931342,3	K562	blood:
30	chr2:55914359..55914875-chr2:56359733..56360705,2	MCF-7	breast:
31	chr2:55917685..55919319-chr2:55933220..55935207,2	MCF-7	breast:
32	chr2:55900367..55902394-chr2:55919082..55920612,2	MCF-7	breast:
33	chr2:55843167..55845991-chr2:55928985..55931317,2	MCF-7	breast:
34	chr2:55921422..55922945-chr2:55929842..55931481,2	K562	blood:
35	chr2:55923343..55925303-chr2:56112727..56114760,2	K562	blood:
36	chr2:55929391..55931366-chr2:55933067..55934702,2	K562	blood:
37	chr2:55843362..55845607-chr2:55918078..55921710,3	K562	blood:
38	chr2:55844240..55846484-chr2:55936559..55939382,2	MCF-7	breast:
39	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
40	chr2:55844655..55846810-chr2:55922812..55925513,2	K562	blood:
41	chr2:55917770..55919326-chr2:55919482..55921073,2	MCF-7	breast:
42	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
43	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
44	chr2:55906258..55908456-chr2:55912451..55914815,2	K562	blood:
45	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
46	chr2:55908037..55910192-chr2:55913450..55914973,2	K562	blood:
47	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC104-6	chr2:55927183-55927442	NONHSAT070804

No data

Variant related genes	Relation type
PNPT1	TF binding region
PNPT1	CpG island
ENSG00000272606	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000138041	chromatin interactions
ENSG00000207798	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000138035	chromatin interactions
ENSG00000199753	chromatin interactions

Extended variants
information (count: 1368 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550105973	chr2:55910262-55910263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151068120	chr2:55910265-55910266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532328638	chr2:55910314-55910315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139815779	chr2:55910352-55910353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571683187	chr2:55910356-55910357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184575860	chr2:55910366-55910367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553706070	chr2:55910426-55910427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567333163	chr2:55910429-55910430	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187494023	chr2:55910487-55910488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149793136	chr2:55910488-55910489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561657614	chr2:55910517-55910518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576692289	chr2:55910518-55910519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200344758	chr2:55910520-55910521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545567158	chr2:55910524-55910525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374753336	chr2:55910525-55910526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572141257	chr2:55910539-55910540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541129200	chr2:55910545-55910546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560824206	chr2:55910581-55910582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574472880	chr2:55910587-55910588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543094557	chr2:55910614-55910615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563586048	chr2:55910619-55910620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532323104	chr2:55910638-55910639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552322202	chr2:55910658-55910659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193288990	chr2:55910663-55910664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185474387	chr2:55910672-55910673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145732469	chr2:55910674-55910675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537857417	chr2:55910675-55910676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547478566	chr2:55910702-55910703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7586366	chr2:55910710-55910711	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532171386	chr2:55910756-55910757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs397943177	chr2:55910766-55910767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370260315	chr2:55910772-55910773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536224905	chr2:55910786-55910787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552185067	chr2:55910787-55910788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549940429	chr2:55910795-55910796	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570295410	chr2:55910826-55910827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538983903	chr2:55910851-55910852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529323122	chr2:55910868-55910869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199551995	chr2:55910871-55910872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371592216	chr2:55910888-55910889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200991272	chr2:55910896-55910897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142364070	chr2:55910925-55910926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs202197669	chr2:55910930-55910931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572684828	chr2:55910954-55910955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76401964	chr2:55910961-55910962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148144235	chr2:55910969-55910970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554698654	chr2:55910980-55910981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373515322	chr2:55910999-55911000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201400849	chr2:55911000-55911001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375010059	chr2:55911018-55911019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
4	chr2:55864400-55919600	Weak transcription	NHLF	lung
5	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
9	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
10	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
11	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
12	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:55879400-55914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:55881200-55913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
16	chr2:55889800-55918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:55890200-55915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:55890400-55914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:55892000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:55892200-55914000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:55892400-55919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:55892600-55917000	Strong transcription	Dnd41	blood
23	chr2:55893200-55915800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:55894000-55919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:55895800-55920000	Weak transcription	Right Ventricle	heart
26	chr2:55897000-55914400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:55897600-55913600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:55897600-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:55898000-55913600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:55901200-55915000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:55901200-55915200	Strong transcription	GM12878-XiMat	blood
32	chr2:55901800-55914200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:55901800-55916000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:55902000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:55902000-55914000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:55902000-55915200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:55902000-55916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:55903200-55915800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:55903400-55914200	Strong transcription	Adipose Nuclei	Adipose
40	chr2:55903600-55913200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:55903600-55914200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:55903600-55915800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:55904000-55913400	Strong transcription	Fetal Thymus	thymus
44	chr2:55904000-55913800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:55904000-55914000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:55904000-55914200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:55904200-55916400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:55904200-55920600	Weak transcription	Stomach Mucosa	stomach
49	chr2:55904600-55911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:55904600-55920200	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links