Variant report

Variant	esv2762552
Chromosome Location	chr2:48413146-48493182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1063)
CpG islands
(count:125)
Chromatin interactive
region (count:33)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48433217-48433475	K562	blood:	n/a	n/a
2	ARID3A	chr2:48432221-48433107	HepG2	liver:	n/a	chr2:48432400-48432416
3	ARID3A	chr2:48492181-48492668	K562	blood:	n/a	n/a
4	ARID3A	chr2:48477046-48478513	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:48463565-48464093	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:48475747-48476038	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:48448813-48449551	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:48484484-48484520	K562	blood:	n/a	n/a
9	ARID3A	chr2:48446581-48447667	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:48430164-48430486	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:48427791-48428233	K562	blood:	n/a	n/a
12	ATF1	chr2:48491931-48493102	K562	blood:	n/a	n/a
13	ATF2	chr2:48454572-48455439	GM12878	blood:	n/a	n/a
14	ATF2	chr2:48475582-48476108	GM12878	blood:	n/a	n/a
15	ATF2	chr2:48478029-48478492	GM12878	blood:	n/a	n/a
16	ATF2	chr2:48475608-48476169	GM12878	blood:	n/a	n/a
17	ATF2	chr2:48454623-48455253	GM12878	blood:	n/a	n/a
18	ATF3	chr2:48492226-48492663	K562	blood:	n/a	n/a
19	ATF3	chr2:48475723-48476146	HCT-116	colon:	n/a	n/a
20	ATF3	chr2:48448870-48449538	HepG2	liver:	n/a	n/a
21	BACH1	chr2:48493009-48493011	K562	blood:	n/a	n/a
22	BACH1	chr2:48475704-48476068	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr2:48478102-48478372	GM12878	blood:	n/a	n/a
24	BATF	chr2:48475730-48476062	GM12878	blood:	n/a	chr2:48475910-48475921 chr2:48475882-48475890
25	BATF	chr2:48454704-48455022	GM12878	blood:	n/a	n/a
26	BATF	chr2:48460150-48460423	GM12878	blood:	n/a	n/a
27	BATF	chr2:48475749-48476094	GM12878	blood:	n/a	chr2:48475910-48475921 chr2:48475882-48475890
28	BCL11A	chr2:48475759-48476096	GM12878	blood:	n/a	chr2:48475946-48475954
29	BCL11A	chr2:48475758-48476036	GM12878	blood:	n/a	chr2:48475946-48475954
30	BCL11A	chr2:48454785-48455079	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:48454672-48455139	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:48460148-48460384	GM12878	blood:	n/a	n/a
33	BCL3	chr2:48475733-48476014	GM12878	blood:	n/a	chr2:48475946-48475954
34	BCLAF1	chr2:48455381-48455759	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:48434518-48434748	K562	blood:	n/a	n/a
36	BHLHE40	chr2:48448860-48449489	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:48422434-48422515	K562	blood:	n/a	n/a
38	BHLHE40	chr2:48416954-48417363	K562	blood:	n/a	n/a
39	BHLHE40	chr2:48432815-48432958	K562	blood:	n/a	n/a
40	BHLHE40	chr2:48446906-48447658	HepG2	liver:	n/a	n/a
41	BHLHE40	chr2:48454747-48455103	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:48492225-48493171	K562	blood:	n/a	n/a
43	CBX3	chr2:48492199-48492656	K562	blood:	n/a	n/a
44	CCNT2	chr2:48414374-48414539	K562	blood:	n/a	n/a
45	CCNT2	chr2:48433392-48433460	K562	blood:	n/a	n/a
46	CCNT2	chr2:48492154-48492782	K562	blood:	n/a	chr2:48492418-48492438
47	CCNT2	chr2:48480165-48480611	K562	blood:	n/a	n/a
48	CCNT2	chr2:48427785-48428096	K562	blood:	n/a	chr2:48428042-48428051
49	CEBPB	chr2:48477117-48477489	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:48448964-48449394	HepG2	liver:	n/a	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48434367-48434417	SK-N-MC	brain:	n/a
2	chr2:48434367-48434417	HRE	kidney:	n/a
3	chr2:48414512-48414562	LNCaP	prostate:	n/a
4	chr2:48434367-48434417	SK-N-MC	brain:	n/a
5	chr2:48434367-48434417	HRE	kidney:	n/a
6	chr2:48414512-48414562	LNCaP	prostate:	n/a
7	chr2:48414512-48414562	PFSK-1	brain:	n/a
8	chr2:48434367-48434417	AG09319	gingival:	n/a
9	chr2:48434367-48434417	HRPEpiC	eye:	n/a
10	chr2:48414512-48414562	MCF10A-Er-Src	breast:	n/a
11	chr2:48434367-48434417	AG09309	skin:	n/a
12	chr2:48434367-48434417	HCM	heart:	n/a
13	chr2:48434367-48434417	SAEC	small airway:	n/a
14	chr2:48434367-48434417	HRCEpiC	kidney:	n/a
15	chr2:48434367-48434417	HAEpiC	amniotic membrane:	n/a
16	chr2:48434367-48434417	Hepatocyte	liver:	n/a
17	chr2:48434367-48434417	Hela-S3	cervix:	n/a
18	chr2:48414512-48414562	Hepatocyte	liver:	n/a
19	chr2:48414512-48414562	CMK	blood:	n/a
20	chr2:48434367-48434417	GM12878	blood:	n/a
21	chr2:48434367-48434417	GM19239	blood:	n/a
22	chr2:48414512-48414562	ECC-1	luminal epithelium:	n/a
23	chr2:48414512-48414562	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:48434367-48434417	GM12892	blood:	n/a
25	chr2:48414512-48414562	ProgFib	skin:	n/a
26	chr2:48414512-48414562	IMR90	lung:	fetal
27	chr2:48434367-48434417	PFSK-1	brain:	n/a
28	chr2:48414512-48414562	HL-60	blood:	n/a
29	chr2:48434367-48434417	HIPEpiC	eye:	n/a
30	chr2:48434367-48434417	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:48434367-48434417	NH-A	brain:	n/a
32	chr2:48414512-48414562	SK-N-SH	brain:	n/a
33	chr2:48414512-48414562	HCT-116	colon:	n/a
34	chr2:48414512-48414562	AG10803	skin:	n/a
35	chr2:48434367-48434417	HCF	heart:	n/a
36	chr2:48434367-48434417	HNPCEpiC	eye:	n/a
37	chr2:48434367-48434417	T-47D	breast:	n/a
38	chr2:48434367-48434417	MCF-7	breast:	n/a
39	chr2:48434367-48434417	AG04450	lung:	fetal
40	chr2:48414512-48414562	Caco-2	colon:	n/a
41	chr2:48414512-48414562	NHBE	bronchial:	n/a
42	chr2:48434367-48434417	CMK	blood:	n/a
43	chr2:48414512-48414562	HMEC	breast:	n/a
44	chr2:48414512-48414562	MCF-7	breast:	n/a
45	chr2:48434367-48434417	GM12891	blood:	n/a
46	chr2:48434367-48434417	HepG2	liver:	n/a
47	chr2:48434367-48434417	HMEC	breast:	n/a
48	chr2:48414512-48414562	H1-hESC	embryonic stem cell:	embryo
49	chr2:48414512-48414562	HRE	kidney:	n/a
50	chr2:48434367-48434417	GM06990	blood:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48442344..48444202-chr2:48446205..48448068,2	K562	blood:
2	chr2:48487519..48489450-chr2:48489934..48492138,2	K562	blood:
3	chr2:48463548..48466435-chr2:48483353..48486334,2	K562	blood:
4	chr2:48444859..48447446-chr2:48460629..48462297,2	K562	blood:
5	chr2:48431668..48433629-chr2:48442154..48444145,2	MCF-7	breast:
6	chr2:48415132..48417658-chr2:48422363..48423907,2	MCF-7	breast:
7	chr2:48436276..48438962-chr2:48439621..48441170,3	K562	blood:
8	chr1:8360834..8361754-chr2:48483082..48483582,2	NB4	blood:
9	chr2:48420748..48422643-chr2:48628237..48631229,2	K562	blood:
10	chr14:81611696..81613196-chr2:48488940..48490546,2	MCF-7	breast:
11	chr2:48475464..48477949-chr2:48504616..48506328,2	K562	blood:
12	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:
13	chr2:48444859..48447446-chr2:48460629..48462297,2	K562	blood:
14	chr2:48475740..48478459-chr2:48481350..48483573,2	K562	blood:
15	chr2:48457105..48459838-chr2:48462699..48465520,3	K562	blood:
16	chr2:48463548..48466435-chr2:48483353..48486334,2	K562	blood:
17	chr2:48415132..48417658-chr2:48422363..48423907,2	MCF-7	breast:
18	chr2:48457105..48459838-chr2:48462699..48465520,3	K562	blood:
19	chr2:48492137..48494411-chr2:48542775..48545328,2	K562	blood:
20	chr2:48434273..48436933-chr2:48509087..48510604,2	K562	blood:
21	chr2:48430653..48432447-chr2:48432583..48435502,2	K562	blood:
22	chr2:48431668..48433629-chr2:48442154..48444145,2	MCF-7	breast:
23	chr2:48442344..48444202-chr2:48446205..48448068,2	K562	blood:
24	chr2:48444197..48446382-chr2:48474210..48475992,2	MCF-7	breast:
25	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:
26	chr2:48456981..48457558-chr8:144780788..144781293,2	MCF-7	breast:
27	chr2:48480909..48483204-chr2:48540042..48542458,2	K562	blood:
28	chr2:48475740..48478459-chr2:48481350..48483573,2	K562	blood:
29	chr2:48436276..48438962-chr2:48439621..48441170,3	K562	blood:
30	chr2:48430653..48432447-chr2:48432583..48435502,2	K562	blood:
31	chr2:48375584..48378274-chr2:48411231..48413215,2	K562	blood:
32	chr2:48492280..48493854-chr2:48539785..48541732,2	K562	blood:
33	chr2:48487519..48489450-chr2:48489934..48492138,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXN2-3	chr2:48444714-48445038	NONHSAT070617
2	lnc-FBXO11-1	chr2:48468067-48468122	ENSG00000230773
3	lnc-FOXN2-4	chr2:48425532-48425603	NONHSAT070616
4	lnc-FOXN2-4	chr2:48423238-48423721	NONHSAT070616
5	lnc-FBXO11-1	chr2:48468067-48468141	NONHSAT070610

No data

Variant related genes	Relation type
ENSG00000230773	TF binding region
RN7SKP224	TF binding region
ENSG00000230773	CpG island
RN7SKP224	CpG island
ENSG00000201010	chromatin interactions
ENSG00000170802	chromatin interactions

Extended variants
information (count: 3235 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:3235 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192161939	chr2:48413146-48413147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557782421	chr2:48413177-48413178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572829485	chr2:48413218-48413219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533909384	chr2:48413250-48413251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555516749	chr2:48413294-48413295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184752463	chr2:48413300-48413301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35843571	chr2:48413303-48413304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190347489	chr2:48413305-48413306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562997877	chr2:48413347-48413348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578224757	chr2:48413375-48413376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546028003	chr2:48413409-48413410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528152003	chr2:48413432-48413433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527697470	chr2:48413453-48413454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143042812	chr2:48413463-48413464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542686563	chr2:48413471-48413472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146737899	chr2:48413551-48413552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529014986	chr2:48413566-48413567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4953559	chr2:48413594-48413595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs140388471	chr2:48413624-48413625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182590703	chr2:48413627-48413628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533285788	chr2:48413641-48413642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551075400	chr2:48413651-48413652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566428717	chr2:48413658-48413659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111686185	chr2:48413685-48413686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376960696	chr2:48413700-48413701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555455180	chr2:48413707-48413708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145591178	chr2:48413722-48413723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111797220	chr2:48413732-48413733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370345772	chr2:48413744-48413745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138189848	chr2:48413755-48413756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374064820	chr2:48413760-48413761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556760719	chr2:48413835-48413836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189584137	chr2:48413837-48413838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117733208	chr2:48413846-48413847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546702506	chr2:48413851-48413852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140945185	chr2:48413874-48413875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572064153	chr2:48413879-48413880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181066370	chr2:48413887-48413888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11676381	chr2:48413924-48413925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531739083	chr2:48413929-48413930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528897102	chr2:48413951-48413952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544056805	chr2:48413963-48413964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537688173	chr2:48413975-48413976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72818443	chr2:48414018-48414019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558864769	chr2:48414048-48414049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532996912	chr2:48414075-48414076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551624044	chr2:48414089-48414090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566774968	chr2:48414123-48414124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150208935	chr2:48414141-48414142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11691493	chr2:48414153-48414154	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Bladder cancer	21909424	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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:984 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48403800-48414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:48411800-48413200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:48412000-48413200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:48412000-48418600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:48412200-48415200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:48412400-48413600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:48412400-48414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:48412600-48414200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:48412600-48414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:48412600-48415200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:48412600-48416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:48412800-48413200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:48413000-48416200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:48413200-48415200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:48413200-48416000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:48413200-48417000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:48413600-48413800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:48413600-48415200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:48413600-48415200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:48413800-48414200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:48414200-48414400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:48414200-48415000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:48414200-48415200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:48414200-48415200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:48414200-48415200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:48414200-48415400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:48414400-48415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:48415000-48415200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:48415000-48423200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:48416000-48418200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:48416200-48416800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:48416800-48417000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:48416800-48417200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:48416800-48417600	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:48416800-48417600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:48416800-48417600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:48417000-48418200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:48417600-48418000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr2:48417600-48423400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:48417800-48418200	Enhancers	HepG2	liver
41	chr2:48418000-48423200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:48418200-48422000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:48418200-48423200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:48418400-48419000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:48418400-48419000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:48418600-48419000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:48418600-48419000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:48418600-48419000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:48418600-48419000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:48418800-48423200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links