Variant report

Variant	nsv514069
Chromosome Location	chr2:55914952-55938116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:584)
CpG islands
(count:915)
Chromatin interactive
region (count:37)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr2:55920529-55921291	A549	lung:	n/a	chr2:55921017-55921026
9	BCL3	chr2:55920594-55921316	A549	lung:	n/a	chr2:55921017-55921026
10	BCLAF1	chr2:55920680-55921228	GM12878	blood:	n/a	chr2:55921017-55921026
11	BCLAF1	chr2:55920670-55921264	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	chr2:55920736-55921304	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:55920674-55921168	HepG2	liver:	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	chr2:55926639-55926843	Hela-S3	cervix:	n/a	chr2:55926700-55926711
24	CEBPB	chr2:55920781-55921268	MCF-7	breast:	n/a	chr2:55920993-55921001
25	CEBPB	chr2:55926536-55926873	HepG2	liver:	n/a	chr2:55926700-55926711
26	CEBPB	chr2:55920648-55921368	ECC-1	luminal epithelium:	n/a	chr2:55920993-55921001
27	CEBPB	chr2:55922691-55922959	HepG2	liver:	n/a	chr2:55922831-55922842
28	CEBPB	chr2:55926697-55926717	A549	lung:	n/a	chr2:55926700-55926711
29	CEBPB	chr2:55920825-55921289	K562	blood:	n/a	chr2:55920993-55921001
30	CEBPB	chr2:55920885-55921311	HepG2	liver:	n/a	chr2:55920993-55921001
31	CEBPB	chr2:55920873-55921209	HepG2	liver:	n/a	chr2:55920993-55921001
32	CEBPB	chr2:55922691-55922925	K562	blood:	n/a	chr2:55922831-55922842
33	CEBPB	chr2:55926665-55926773	K562	blood:	n/a	chr2:55926700-55926711
34	CEBPB	chr2:55920861-55921278	A549	lung:	n/a	chr2:55920993-55921001
35	CEBPB	chr2:55920755-55921304	IMR90	lung:	n/a	chr2:55920993-55921001
36	CEBPB	chr2:55926680-55926739	IMR90	lung:	n/a	chr2:55926700-55926711
37	CEBPB	chr2:55920656-55921443	A549	lung:	n/a	chr2:55920993-55921001
38	CEBPB	chr2:55920973-55921286	ECC-1	luminal epithelium:	n/a	chr2:55920993-55921001
39	CEBPB	chr2:55920919-55921293	H1-hESC	embryonic stem cell:	n/a	chr2:55920993-55921001
40	CEBPB	chr2:55920783-55921309	A549	lung:	n/a	chr2:55920993-55921001
41	CEBPB	chr2:55921038-55921179	K562	blood:	n/a	n/a
42	CEBPB	chr2:55922763-55922888	H1-hESC	embryonic stem cell:	n/a	chr2:55922831-55922842
43	CEBPB	chr2:55920708-55921294	HepG2	liver:	n/a	chr2:55920993-55921001
44	CEBPB	chr2:55920886-55921217	HepG2	liver:	n/a	chr2:55920993-55921001
45	CEBPB	chr2:55922752-55922867	A549	lung:	n/a	chr2:55922831-55922842
46	CEBPB	chr2:55920770-55921334	Hela-S3	cervix:	n/a	chr2:55920993-55921001
47	CEBPB	chr2:55920734-55921312	K562	blood:	n/a	chr2:55920993-55921001
48	CEBPD	chr2:55920706-55921131	HepG2	liver:	n/a	n/a
49	CEBPD	chr2:55920734-55921134	HepG2	liver:	n/a	n/a
50	CHD1	chr2:55919446-55919533	GM12878	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55920613-55920663	H1-hESC	embryonic stem cell:	embryo
2	chr2:55921064-55921114	HNPCEpiC	eye:	n/a
3	chr2:55921863-55921913	MCF10A-Er-Src	breast:	n/a
4	chr2:55921061-55921111	U87	brain:	n/a
5	chr2:55921094-55921144	IMR90	lung:	fetal
6	chr2:55921045-55921095	NB4	blood:	n/a
7	chr2:55921125-55921175	NHBE	bronchial:	n/a
8	chr2:55920781-55920831	HEEpiC	esophagus:	n/a
9	chr2:55919983-55920033	ProgFib	skin:	n/a
10	chr2:55921125-55921175	HepG2	liver:	n/a
11	chr2:55921045-55921095	Caco-2	colon:	n/a
12	chr2:55923768-55923818	BJ	skin:	n/a
13	chr2:55923768-55923818	HCPEpiC	choroid plexus:	n/a
14	chr2:55920564-55920614	AG04449	skin:	fetal
15	chr2:55921045-55921095	HEEpiC	esophagus:	n/a
16	chr2:55921061-55921111	HUVEC	blood vessel:	n/a
17	chr2:55921045-55921095	HNPCEpiC	eye:	n/a
18	chr2:55921072-55921122	NB4	blood:	n/a
19	chr2:55921045-55921095	MCF-7	breast:	n/a
20	chr2:55920781-55920831	MCF10A-Er-Src	breast:	n/a
21	chr2:55920613-55920663	HIPEpiC	eye:	n/a
22	chr2:55920613-55920663	HCPEpiC	choroid plexus:	n/a
23	chr2:55920564-55920614	CMK	blood:	n/a
24	chr2:55920781-55920831	HRPEpiC	eye:	n/a
25	chr2:55920932-55920982	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:55921094-55921144	HRPEpiC	eye:	n/a
27	chr2:55921061-55921111	HEK293	kidney:	embryo
28	chr2:55921125-55921175	HNPCEpiC	eye:	n/a
29	chr2:55920564-55920614	HEEpiC	esophagus:	n/a
30	chr2:55920564-55920614	PrEC	prostate:	n/a
31	chr2:55920932-55920982	SKMC	muscle:	n/a
32	chr2:55921045-55921095	BE2_C	brain:	n/a
33	chr2:55920613-55920663	SKMC	muscle:	n/a
34	chr2:55921045-55921095	T-47D	breast:	n/a
35	chr2:55920477-55920527	Hela-S3	cervix:	n/a
36	chr2:55921863-55921913	PANC-1	pancreas:	n/a
37	chr2:55919983-55920033	A549	lung:	n/a
38	chr2:55921064-55921114	BE2_C	brain:	n/a
39	chr2:55921061-55921111	AG04450	lung:	fetal
40	chr2:55921125-55921175	ECC-1	luminal epithelium:	n/a
41	chr2:55921094-55921144	MCF-7	breast:	n/a
42	chr2:55921094-55921144	HRE	kidney:	n/a
43	chr2:55920781-55920831	Jurkat	blood:	n/a
44	chr2:55920477-55920527	BJ	skin:	n/a
45	chr2:55921863-55921913	H1-hESC	embryonic stem cell:	embryo
46	chr2:55920781-55920831	K562	blood:	n/a
47	chr2:55920613-55920663	GM19239	blood:	n/a
48	chr2:55921064-55921114	HL-60	blood:	n/a
49	chr2:55920781-55920831	HAEpiC	amniotic membrane:	n/a
50	chr2:55921061-55921111	HL-60	blood:	n/a

(count:37 , 50 per page) page: 1

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

Extended variants
information (count: 1063 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10184187	chr2:55914962-55914963	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577887566	chr2:55915034-55915035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540525991	chr2:55915062-55915063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554086139	chr2:55915090-55915091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546935633	chr2:55915128-55915129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139811313	chr2:55915129-55915130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369478760	chr2:55915138-55915139	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552344101	chr2:55915143-55915144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566813585	chr2:55915146-55915147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs782576	chr2:55915155-55915156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs542883787	chr2:55915187-55915188	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562590660	chr2:55915204-55915205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187984342	chr2:55915245-55915246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62165234	chr2:55915261-55915262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569351019	chr2:55915306-55915307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs782577	chr2:55915367-55915368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs527543660	chr2:55915369-55915370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547703293	chr2:55915376-55915377	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573482018	chr2:55915390-55915391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373000103	chr2:55915411-55915412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55695157	chr2:55915426-55915427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112767098	chr2:55915430-55915431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561212027	chr2:55915439-55915440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529877184	chr2:55915444-55915445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549743957	chr2:55915460-55915461	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192306637	chr2:55915472-55915473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59995349	chr2:55915490-55915491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116085763	chr2:55915493-55915494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557123305	chr2:55915497-55915498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551313751	chr2:55915518-55915519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377318585	chr2:55915581-55915582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184212331	chr2:55915583-55915584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554024511	chr2:55915585-55915586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574289158	chr2:55915643-55915644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536821257	chr2:55915644-55915645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556502418	chr2:55915660-55915661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576041760	chr2:55915731-55915732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144186032	chr2:55915760-55915761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565012638	chr2:55915785-55915786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12617719	chr2:55915826-55915827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545387137	chr2:55915855-55915856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375375338	chr2:55915872-55915873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75849470	chr2:55915895-55915896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35313487	chr2:55915898-55915899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200865090	chr2:55915901-55915902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376738373	chr2:55915902-55915903	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs782578	chr2:55915904-55915905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553340826	chr2:55915923-55915924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549916415	chr2:55915963-55915964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187932081	chr2:55915981-55915982	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:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
3	chr2:55864400-55919600	Weak transcription	NHLF	lung
4	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
8	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
9	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
10	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
11	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
13	chr2:55889800-55918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:55890200-55915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:55892400-55919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:55892600-55917000	Strong transcription	Dnd41	blood
17	chr2:55893200-55915800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:55894000-55919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:55895800-55920000	Weak transcription	Right Ventricle	heart
20	chr2:55901200-55915000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:55901200-55915200	Strong transcription	GM12878-XiMat	blood
22	chr2:55901800-55916000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:55902000-55915200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:55902000-55916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:55903200-55915800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:55903600-55915800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:55904200-55916400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:55904200-55920600	Weak transcription	Stomach Mucosa	stomach
29	chr2:55904600-55920200	Weak transcription	Gastric	stomach
30	chr2:55905000-55915000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:55905000-55915600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:55905200-55916000	Strong transcription	Liver	Liver
33	chr2:55906800-55915800	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:55907200-55915800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:55907400-55920000	Weak transcription	Fetal Kidney	kidney
36	chr2:55907600-55919800	Weak transcription	NHDF-Ad	bronchial
37	chr2:55907800-55919800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:55908400-55915200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:55908600-55919800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:55909200-55920200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:55910000-55919800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:55910000-55920000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:55910000-55920000	Weak transcription	Esophagus	oesophagus
44	chr2:55910200-55916000	Strong transcription	NHEK	skin
45	chr2:55910200-55919800	Weak transcription	Thymus	Thymus
46	chr2:55910400-55919800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:55910400-55920200	Weak transcription	Left Ventricle	heart
48	chr2:55910600-55919800	Weak transcription	Colonic Mucosa	Colon
49	chr2:55910600-55919800	Weak transcription	Fetal Brain Male	brain
50	chr2:55910600-55920000	Weak transcription	Lung	lung

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