Variant report

Variant	esv16137
Chromosome Location	chr2:55910848-55938746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:738)
CpG islands
(count:916)
Chromatin interactive
region (count:45)
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	chr2:55920708-55921249	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:55920700-55921352	GM12878	blood:	n/a	n/a
6	ATF3	chr2:55920763-55921385	A549	lung:	n/a	n/a
7	ATF3	chr2:55920613-55921267	A549	lung:	n/a	n/a
8	BCL3	chr2:55920529-55921291	A549	lung:	n/a	chr2:55921017-55921026
9	BCL3	chr2:55920594-55921316	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	chr2:55920674-55921168	HepG2	liver:	n/a	n/a
13	BHLHE40	chr2:55932430-55932719	K562	blood:	n/a	n/a
14	BHLHE40	chr2:55920736-55921304	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:55932472-55932647	HepG2	liver:	n/a	n/a
16	BHLHE40	chr2:55920705-55921206	K562	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	chr2:55920607-55921412	HCT-116	colon:	n/a	n/a
20	CBX3	chr2:55920453-55921347	K562	blood:	n/a	n/a
21	CBX3	chr2:55920791-55921259	K562	blood:	n/a	n/a
22	CCNT2	chr2:55920752-55921142	K562	blood:	n/a	n/a
23	CEBPB	chr2:55920781-55921268	MCF-7	breast:	n/a	chr2:55920993-55921001
24	CEBPB	chr2:55926680-55926739	IMR90	lung:	n/a	chr2:55926700-55926711
25	CEBPB	chr2:55920919-55921293	H1-hESC	embryonic stem cell:	n/a	chr2:55920993-55921001
26	CEBPB	chr2:55926536-55926873	HepG2	liver:	n/a	chr2:55926700-55926711
27	CEBPB	chr2:55920656-55921443	A549	lung:	n/a	chr2:55920993-55921001
28	CEBPB	chr2:55920708-55921294	HepG2	liver:	n/a	chr2:55920993-55921001
29	CEBPB	chr2:55920886-55921217	HepG2	liver:	n/a	chr2:55920993-55921001
30	CEBPB	chr2:55922691-55922925	K562	blood:	n/a	chr2:55922831-55922842
31	CEBPB	chr2:55920755-55921304	IMR90	lung:	n/a	chr2:55920993-55921001
32	CEBPB	chr2:55920783-55921309	A549	lung:	n/a	chr2:55920993-55921001
33	CEBPB	chr2:55922752-55922867	A549	lung:	n/a	chr2:55922831-55922842
34	CEBPB	chr2:55926665-55926773	K562	blood:	n/a	chr2:55926700-55926711
35	CEBPB	chr2:55920973-55921286	ECC-1	luminal epithelium:	n/a	chr2:55920993-55921001
36	CEBPB	chr2:55920648-55921368	ECC-1	luminal epithelium:	n/a	chr2:55920993-55921001
37	CEBPB	chr2:55920873-55921209	HepG2	liver:	n/a	chr2:55920993-55921001
38	CEBPB	chr2:55926697-55926717	A549	lung:	n/a	chr2:55926700-55926711
39	CEBPB	chr2:55920861-55921278	A549	lung:	n/a	chr2:55920993-55921001
40	CEBPB	chr2:55926639-55926843	Hela-S3	cervix:	n/a	chr2:55926700-55926711
41	CEBPB	chr2:55920825-55921289	K562	blood:	n/a	chr2:55920993-55921001
42	CEBPB	chr2:55920885-55921311	HepG2	liver:	n/a	chr2:55920993-55921001
43	CEBPB	chr2:55920770-55921334	Hela-S3	cervix:	n/a	chr2:55920993-55921001
44	CEBPB	chr2:55921038-55921179	K562	blood:	n/a	n/a
45	CEBPB	chr2:55922691-55922959	HepG2	liver:	n/a	chr2:55922831-55922842
46	CEBPB	chr2:55922763-55922888	H1-hESC	embryonic stem cell:	n/a	chr2:55922831-55922842
47	CEBPB	chr2:55920734-55921312	K562	blood:	n/a	chr2:55920993-55921001
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:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55923768-55923818	BE2_C	brain:	n/a
2	chr2:55923768-55923818	BE2_C	brain:	n/a
3	chr2:55921094-55921144	SK-N-SH	brain:	n/a
4	chr2:55920932-55920982	HL-60	blood:	n/a
5	chr2:55916793-55916843	GM12892	blood:	n/a
6	chr2:55919983-55920033	MCF10A-Er-Src	breast:	n/a
7	chr2:55921094-55921144	HUVEC	blood vessel:	n/a
8	chr2:55920613-55920663	NH-A	brain:	n/a
9	chr2:55921064-55921114	A549	lung:	n/a
10	chr2:55920781-55920831	AG09309	skin:	n/a
11	chr2:55920477-55920527	HMEC	breast:	n/a
12	chr2:55921863-55921913	AG04449	skin:	fetal
13	chr2:55923768-55923818	Hela-S3	cervix:	n/a
14	chr2:55921045-55921095	Hela-S3	cervix:	n/a
15	chr2:55923768-55923818	HNPCEpiC	eye:	n/a
16	chr2:55921045-55921095	AG04450	lung:	fetal
17	chr2:55921863-55921913	GM19239	blood:	n/a
18	chr2:55921045-55921095	SAEC	small airway:	n/a
19	chr2:55921045-55921095	SK-N-SH	brain:	n/a
20	chr2:55921125-55921175	HEEpiC	esophagus:	n/a
21	chr2:55919983-55920033	HEK293	kidney:	embryo
22	chr2:55920613-55920663	AG09309	skin:	n/a
23	chr2:55920613-55920663	HepG2	liver:	n/a
24	chr2:55921061-55921111	HNPCEpiC	eye:	n/a
25	chr2:55920564-55920614	NT2-D1	testis:	n/a
26	chr2:55921064-55921114	ECC-1	luminal epithelium:	n/a
27	chr2:55921064-55921114	MCF10A-Er-Src	breast:	n/a
28	chr2:55921064-55921114	NH-A	brain:	n/a
29	chr2:55921045-55921095	MCF-7	breast:	n/a
30	chr2:55919983-55920033	BE2_C	brain:	n/a
31	chr2:55920477-55920527	U87	brain:	n/a
32	chr2:55921863-55921913	BJ	skin:	n/a
33	chr2:55920932-55920982	GM06990	blood:	n/a
34	chr2:55921863-55921913	HCPEpiC	choroid plexus:	n/a
35	chr2:55921125-55921175	HMEC	breast:	n/a
36	chr2:55921125-55921175	PrEC	prostate:	n/a
37	chr2:55919983-55920033	SK-N-MC	brain:	n/a
38	chr2:55921064-55921114	HL-60	blood:	n/a
39	chr2:55920781-55920831	IMR90	lung:	fetal
40	chr2:55921125-55921175	HEK293	kidney:	embryo
41	chr2:55920781-55920831	AoSMC	blood vessel:	n/a
42	chr2:55920613-55920663	PrEC	prostate:	n/a
43	chr2:55920564-55920614	HRE	kidney:	n/a
44	chr2:55921094-55921144	HMEC	breast:	n/a
45	chr2:55921094-55921144	HepG2	liver:	n/a
46	chr2:55920781-55920831	GM12878	blood:	n/a
47	chr2:55921125-55921175	HAEpiC	amniotic membrane:	n/a
48	chr2:55920613-55920663	MCF-7	breast:	n/a
49	chr2:55920564-55920614	NHDF-neo	bronchial:	n/a
50	chr2:55920613-55920663	AG04449	skin:	fetal

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55904255..55906446-chr2:55915981..55918234,2	K562	blood:
2	chr2:55901517..55904388-chr2:55919135..55920931,2	K562	blood:
3	chr2:55843167..55845991-chr2:55928985..55931317,2	MCF-7	breast:
4	chr2:55876589..55879257-chr2:55911121..55913801,2	K562	blood:
5	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
6	chr2:55920582..55922485-chr2:56215430..56218121,2	K562	blood:
7	chr2:55844655..55846810-chr2:55922812..55925513,2	K562	blood:
8	chr2:55920465..55921094-chr7:5569393..5570095,2	Hela-S3	cervix:
9	chr2:55844240..55846484-chr2:55936559..55939382,2	MCF-7	breast:
10	chr2:55912617..55915490-chr2:55920538..55922128,2	MCF-7	breast:
11	chr2:55921422..55922945-chr2:55929842..55931481,2	K562	blood:
12	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
13	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
14	chr2:55923895..55927237-chr2:55928589..55931342,3	K562	blood:
15	chr2:55843362..55845607-chr2:55918078..55921710,3	K562	blood:
16	chr2:55929391..55931366-chr2:55933067..55934702,2	K562	blood:
17	chr2:55907894..55910772-chr2:55917200..55919535,2	K562	blood:
18	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
19	chr2:55915324..55917701-chr2:55918761..55921401,5	K562	blood:
20	chr2:55890547..55892839-chr2:55908611..55911224,2	K562	blood:
21	chr2:55896512..55898874-chr2:55921554..55923085,2	K562	blood:
22	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
23	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
24	chr2:55900367..55902394-chr2:55919082..55920612,2	MCF-7	breast:
25	chr2:55923343..55925303-chr2:56112727..56114760,2	K562	blood:
26	chr2:55917685..55919319-chr2:55933220..55935207,2	MCF-7	breast:
27	chr2:55915939..55918877-chr2:55919426..55922860,4	MCF-7	breast:
28	chr2:55910372..55912674-chr2:55919514..55921035,2	MCF-7	breast:
29	chr2:55841795..55844862-chr2:55919047..55922552,3	K562	blood:
30	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
31	chr2:55906258..55908456-chr2:55912451..55914815,2	K562	blood:
32	chr2:55919843..55923832-chr2:55924839..55929047,4	K562	blood:
33	chr2:55917685..55919319-chr2:55933220..55935207,2	MCF-7	breast:
34	chr2:55919933..55923832-chr2:55924839..55928648,5	K562	blood:
35	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
36	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
37	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
38	chr2:55929391..55931366-chr2:55933067..55934702,2	K562	blood:
39	chr2:55923895..55927237-chr2:55928589..55931342,3	K562	blood:
40	chr2:55917770..55919326-chr2:55919482..55921073,2	MCF-7	breast:
41	chr17:62222684..62223474-chr2:55920600..55921160,2	Hela-S3	cervix:
42	chr2:55914359..55914875-chr2:56359733..56360705,2	MCF-7	breast:
43	chr2:55921422..55922945-chr2:55929842..55931481,2	K562	blood:
44	chr2:55908037..55910192-chr2:55913450..55914973,2	K562	blood:
45	chr2:55908913..55911082-chr2:55915955..55917919,2	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
ENSG00000075624	chromatin interactions
ENSG00000272606	chromatin interactions
ENSG00000138041	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000207798	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000138035	chromatin interactions

Extended variants
information (count: 1294 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538983903	chr2:55910851-55910852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529323122	chr2:55910868-55910869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199551995	chr2:55910871-55910872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371592216	chr2:55910888-55910889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200991272	chr2:55910896-55910897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142364070	chr2:55910925-55910926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs202197669	chr2:55910930-55910931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572684828	chr2:55910954-55910955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76401964	chr2:55910961-55910962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148144235	chr2:55910969-55910970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554698654	chr2:55910980-55910981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373515322	chr2:55910999-55911000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201400849	chr2:55911000-55911001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375010059	chr2:55911018-55911019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370217936	chr2:55911023-55911024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145899608	chr2:55911094-55911095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563161881	chr2:55911114-55911115	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146621693	chr2:55911128-55911129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545790328	chr2:55911149-55911150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370281584	chr2:55911162-55911163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559263581	chr2:55911191-55911192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534674515	chr2:55911318-55911319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528269029	chr2:55911350-55911351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs782570	chr2:55911351-55911352	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs562535982	chr2:55911359-55911360	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72807622	chr2:55911366-55911367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530152070	chr2:55911369-55911370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530340915	chr2:55911396-55911397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377373441	chr2:55911397-55911398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550121356	chr2:55911411-55911412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs782571	chr2:55911440-55911441	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs62165233	chr2:55911454-55911455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs7575906	chr2:55911459-55911460	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372993319	chr2:55911492-55911493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566421774	chr2:55911501-55911502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535206868	chr2:55911511-55911512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555220226	chr2:55911522-55911523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115979444	chr2:55911523-55911524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536752287	chr2:55911524-55911525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566562696	chr2:55911525-55911526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556877220	chr2:55911535-55911536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552919069	chr2:55911584-55911585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375294880	chr2:55911588-55911589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377384899	chr2:55911614-55911615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545832541	chr2:55911617-55911618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190425087	chr2:55911654-55911655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572836510	chr2:55911669-55911670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142671943	chr2:55911684-55911685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561567526	chr2:55911689-55911690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530160748	chr2:55911691-55911692	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:654 , 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

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