Variant report

Variant	esv1803021
Chromosome Location	chr2:112041513-112233660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2315)
CpG islands
(count:123)
Chromatin interactive
region (count:5)
LncRNA
region (count:48)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2315 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112077982-112078035	K562	blood:	n/a	n/a
2	ARID3A	chr2:112134733-112134923	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:112165582-112165606	K562	blood:	n/a	n/a
4	ARID3A	chr2:112191601-112191749	K562	blood:	n/a	n/a
5	ARID3A	chr2:112078700-112078866	K562	blood:	n/a	n/a
6	ARID3A	chr2:112142989-112143245	K562	blood:	n/a	n/a
7	ARID3A	chr2:112221794-112221988	HepG2	liver:	n/a	n/a
8	ATF1	chr2:112165410-112165614	K562	blood:	n/a	n/a
9	ATF1	chr2:112174751-112174909	K562	blood:	n/a	n/a
10	ATF1	chr2:112174026-112174226	K562	blood:	n/a	n/a
11	ATF1	chr2:112139588-112139732	K562	blood:	n/a	n/a
12	ATF1	chr2:112191568-112191846	K562	blood:	n/a	n/a
13	ATF1	chr2:112104247-112104437	K562	blood:	n/a	n/a
14	ATF1	chr2:112123600-112123901	K562	blood:	n/a	n/a
15	ATF2	chr2:112183348-112183699	GM12878	blood:	n/a	n/a
16	ATF2	chr2:112183361-112183645	GM12878	blood:	n/a	n/a
17	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
18	BACH1	chr2:112143146-112143417	K562	blood:	n/a	n/a
19	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
20	BATF	chr2:112198041-112198360	GM12878	blood:	n/a	n/a
21	BATF	chr2:112195321-112195643	GM12878	blood:	n/a	chr2:112195574-112195583
22	BATF	chr2:112193934-112194446	GM12878	blood:	n/a	chr2:112194264-112194272
23	BATF	chr2:112183233-112184090	GM12878	blood:	n/a	n/a
24	BATF	chr2:112125762-112126285	GM12878	blood:	n/a	n/a
25	BATF	chr2:112072847-112073098	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
26	BATF	chr2:112077193-112077517	GM12878	blood:	n/a	n/a
27	BATF	chr2:112206432-112206650	GM12878	blood:	n/a	n/a
28	BATF	chr2:112190544-112190853	GM12878	blood:	n/a	n/a
29	BATF	chr2:112183252-112183819	GM12878	blood:	n/a	n/a
30	BATF	chr2:112209363-112210356	GM12878	blood:	n/a	n/a
31	BATF	chr2:112049833-112050062	GM12878	blood:	n/a	n/a
32	BATF	chr2:112077128-112077551	GM12878	blood:	n/a	n/a
33	BATF	chr2:112073963-112074275	GM12878	blood:	n/a	n/a
34	BATF	chr2:112211976-112212278	GM12878	blood:	n/a	n/a
35	BATF	chr2:112074557-112074916	GM12878	blood:	n/a	chr2:112074773-112074784
36	BATF	chr2:112188889-112189327	GM12878	blood:	n/a	n/a
37	BATF	chr2:112211973-112212259	GM12878	blood:	n/a	n/a
38	BATF	chr2:112195246-112195683	GM12878	blood:	n/a	chr2:112195574-112195583
39	BATF	chr2:112195786-112196106	GM12878	blood:	n/a	n/a
40	BATF	chr2:112182048-112182971	GM12878	blood:	n/a	n/a
41	BATF	chr2:112072875-112073150	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
42	BATF	chr2:112209629-112210364	GM12878	blood:	n/a	n/a
43	BATF	chr2:112220893-112221142	GM12878	blood:	n/a	n/a
44	BATF	chr2:112074635-112074933	GM12878	blood:	n/a	chr2:112074773-112074784
45	BATF	chr2:112049811-112050042	GM12878	blood:	n/a	n/a
46	BATF	chr2:112186898-112187455	GM12878	blood:	n/a	n/a
47	BATF	chr2:112158868-112159229	GM12878	blood:	n/a	chr2:112159209-112159219
48	BATF	chr2:112193854-112194550	GM12878	blood:	n/a	chr2:112194264-112194272
49	BATF	chr2:112188947-112189209	GM12878	blood:	n/a	n/a
50	BATF	chr2:112158949-112159184	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:112124118-112124168	AoSMC	blood vessel:	n/a
2	chr2:112124118-112124168	AoSMC	blood vessel:	n/a
3	chr2:112124118-112124168	SK-N-SH	brain:	n/a
4	chr2:112124118-112124168	T-47D	breast:	n/a
5	chr2:112124380-112124430	T-47D	breast:	n/a
6	chr2:112124118-112124168	IMR90	lung:	fetal
7	chr2:112124118-112124168	HNPCEpiC	eye:	n/a
8	chr2:112124380-112124430	AG04450	lung:	fetal
9	chr2:112124118-112124168	BE2_C	brain:	n/a
10	chr2:112124380-112124430	GM12891	blood:	n/a
11	chr2:112124118-112124168	NH-A	brain:	n/a
12	chr2:112124380-112124430	LNCaP	prostate:	n/a
13	chr2:112124380-112124430	K562	blood:	n/a
14	chr2:112124380-112124430	AG04449	skin:	fetal
15	chr2:112124380-112124430	HEK293	kidney:	embryo
16	chr2:112124380-112124430	HRE	kidney:	n/a
17	chr2:112124118-112124168	CMK	blood:	n/a
18	chr2:112124380-112124430	Caco-2	colon:	n/a
19	chr2:112124118-112124168	HL-60	blood:	n/a
20	chr2:112124380-112124430	AG09319	gingival:	n/a
21	chr2:112124380-112124430	HCM	heart:	n/a
22	chr2:112124118-112124168	HUVEC	blood vessel:	n/a
23	chr2:112124380-112124430	ovcar-3	ovarian:	n/a
24	chr2:112124118-112124168	NT2-D1	testis:	n/a
25	chr2:112124118-112124168	NHBE	bronchial:	n/a
26	chr2:112124118-112124168	GM12878	blood:	n/a
27	chr2:112124380-112124430	ECC-1	luminal epithelium:	n/a
28	chr2:112124118-112124168	Jurkat	blood:	n/a
29	chr2:112124380-112124430	HAEpiC	amniotic membrane:	n/a
30	chr2:112124118-112124168	GM19239	blood:	n/a
31	chr2:112124380-112124430	HUVEC	blood vessel:	n/a
32	chr2:112124380-112124430	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:112124380-112124430	SKMC	muscle:	n/a
34	chr2:112124380-112124430	HepG2	liver:	n/a
35	chr2:112124118-112124168	Hela-S3	cervix:	n/a
36	chr2:112124118-112124168	HAEpiC	amniotic membrane:	n/a
37	chr2:112124380-112124430	NHBE	bronchial:	n/a
38	chr2:112124380-112124430	HCF	heart:	n/a
39	chr2:112124380-112124430	PrEC	prostate:	n/a
40	chr2:112124380-112124430	AG10803	skin:	n/a
41	chr2:112124380-112124430	A549	lung:	n/a
42	chr2:112124380-112124430	MCF10A-Er-Src	breast:	n/a
43	chr2:112124118-112124168	HEEpiC	esophagus:	n/a
44	chr2:112124380-112124430	SK-N-SH	brain:	n/a
45	chr2:112124118-112124168	Hepatocyte	liver:	n/a
46	chr2:112124380-112124430	IMR90	lung:	fetal
47	chr2:112124118-112124168	NHDF-neo	bronchial:	n/a
48	chr2:112124118-112124168	MCF10A-Er-Src	breast:	n/a
49	chr2:112124118-112124168	GM06990	blood:	n/a
50	chr2:112124118-112124168	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:111879395..111881005-chr2:112073345..112075122,2	MCF-7	breast:
2	chr2:111877705..111880008-chr2:112211679..112213711,2	MCF-7	breast:
3	chr2:111878316..111879893-chr2:112101721..112103928,2	MCF-7	breast:
4	chr2:111878764..111880387-chr2:112231090..112233888,2	MCF-7	breast:
5	chr2:112158086..112161064-chr8:43095226..43096729,2	MCF-7	breast:

(count:48 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
2	lnc-AC108463.1-3	chr2:112101638-112101701	NONHSAT073620
3	lnc-AC108463.1-3	chr2:112187048-112187197	NONHSAT073639
4	lnc-BCL2L11-6	chr2:112124594-112124991	NONHSAT073618
5	lnc-AC108463.1-3	chr2:112199085-112199198	ENSG00000172965.6
6	lnc-AC108463.1-3	chr2:112124591-112125152	NONHSAT073640
7	lnc-BCL2L11-5	chr2:112085950-112086566	NONHSAT073637
8	lnc-AC108463.1-3	chr2:112227095-112227564	ENSG00000172965.6
9	lnc-BCL2L11-7	chr2:112141383-112141840	NONHSAT147111
10	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
11	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
12	lnc-AC108463.1-3	chr2:112227180-112227564	ENSG00000172965.6
13	lnc-AC108463.1-3	chr2:112101638-112101675	ENSG00000172965.10
14	lnc-AC108463.1-3	chr2:112108185-112108338	ENSG00000172965.6
15	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
16	lnc-AC108463.1-3	chr2:112227364-112227376	NONHSAT073639
17	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
18	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
19	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
20	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
21	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
22	lnc-AC108463.1-3	chr2:112101789-112101814	NONHSAT073639
23	lnc-AC108463.1-3	chr2:112101638-112101814	NONHSAT073622
24	lnc-AC108463.1-3	chr2:112101668-112101814	ENSG00000172965.6
25	lnc-AC108463.1-3	chr2:112186886-112187197	NONHSAT073642
26	lnc-AC108463.1-3	chr2:112187020-112187197	ENSG00000172965.6
27	lnc-BCL2L11-5	chr2:112081889-112082063	NONHSAT073637
28	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes
29	lnc-AC108463.1-3	chr2:112227364-112227564	ENSG00000172965.6
30	lnc-BCL2L11-7	chr2:112141329-112142569	NONHSAT073641
31	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
32	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
33	lnc-AC108463.1-3	chr2:112227215-112227564	ENSG00000172965.6
34	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
35	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.10
36	lnc-AC108463.1-3	chr2:112229566-112229674	ENSG00000172965.6
37	lnc-AC108463.1-6	chr2:112053206-112053623	NONHSAT073635
38	lnc-BCL2L11-5	chr2:112081976-112082063	l_1923_chr2:112081839-112086268_testes
39	lnc-AC108463.1-3	chr2:112125064-112125152	NONHSAT073622
40	lnc-BCL2L11-6	chr2:112060981-112061323	NONHSAT073618
41	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6
42	lnc-BCL2L11-8	chr2:112186899-112187197	NONHSAT073647
43	lnc-AC108463.1-3	chr2:112125064-112125102	ENSG00000172965.10
44	lnc-AC108463.1-3	chr2:112071889-112072139	ENSG00000172965.6
45	lnc-BCL2L11-5	chr2:112081840-112081972	l_1923_chr2:112081839-112086268_testes
46	lnc-BCL2L11-2	chr2:112043757-112044842	XLOC_001624
47	lnc-AC108463.1-3	chr2:112125088-112125152	NONHSAT073639
48	lnc-AC108463.1-3	chr2:112125064-112125152	ENSG00000172965.6

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4435	chr2:112078638-112078659	MIMAT0018951_1

No data

Variant related genes	Relation type
RPS14P4	TF binding region
MIR4435-1HG	TF binding region
ENSG00000223973	TF binding region
MIR4435-1	TF binding region
RPS14P4	CpG island
MIR4435-1HG	CpG island
ENSG00000223973	CpG island
MIR4435-1	CpG island
ENSG00000153094	chromatin interactions
ITSN2	miRNA target sites

Extended variants
information (count: 4863 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4863 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539246955	chr2:112041535-112041536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546433132	chr2:112041590-112041591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1710459	chr2:112041619-112041620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62161569	chr2:112041730-112041731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566416925	chr2:112041911-112041912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535389710	chr2:112041951-112041952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555317747	chr2:112041964-112041965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370704226	chr2:112041993-112041994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575144444	chr2:112042099-112042100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537904907	chr2:112042122-112042123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80320041	chr2:112042163-112042164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1706163	chr2:112042214-112042215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62161571	chr2:112042225-112042226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62161572	chr2:112042307-112042308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577857463	chr2:112042390-112042391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540820224	chr2:112042391-112042392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560701028	chr2:112042506-112042507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574364477	chr2:112042563-112042564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199498465	chr2:112042642-112042643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548735506	chr2:112042700-112042701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs932200	chr2:112042759-112042760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1715151	chr2:112042798-112042799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542971858	chr2:112042830-112042831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs932199	chr2:112042867-112042868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562861042	chr2:112042886-112042887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531612825	chr2:112042948-112042949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545431742	chr2:112042955-112042956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540170751	chr2:112042961-112042962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201620413	chr2:112043224-112043225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374371213	chr2:112043266-112043267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113512733	chr2:112043543-112043544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112832584	chr2:112043549-112043550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566353448	chr2:112043601-112043602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529154340	chr2:112043604-112043605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549014757	chr2:112043607-112043608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568785414	chr2:112043617-112043618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2175504	chr2:112043631-112043632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537436758	chr2:112043647-112043648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113793919	chr2:112043695-112043696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557774347	chr2:112043764-112043765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs144031100	chr2:112043862-112043863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs77803236	chr2:112043896-112043897	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs202178318	chr2:112043919-112043920	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs200110359	chr2:112043923-112043924	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs372361876	chr2:112043924-112043925	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs571348286	chr2:112043927-112043928	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs375314253	chr2:112043928-112043929	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs533901384	chr2:112043929-112043930	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs200694237	chr2:112043930-112043931	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs75242395	chr2:112043931-112043932	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Breast cancer	22314128	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:1658 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112008600-112048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:112020600-112048000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:112023400-112046400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:112025600-112116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:112044400-112046600	Weak transcription	Pancreas	Pancrea
6	chr2:112045400-112045600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:112045400-112045800	Enhancers	NHEK	skin
8	chr2:112045400-112046000	Enhancers	HMEC	breast
9	chr2:112045600-112046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:112045800-112047600	Weak transcription	NHEK	skin
11	chr2:112046000-112046400	Weak transcription	HMEC	breast
12	chr2:112046200-112046400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:112046400-112046600	Enhancers	HMEC	breast
14	chr2:112046400-112046800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:112046400-112047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:112046400-112047800	Enhancers	Placenta	Placenta
17	chr2:112046400-112048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:112046400-112057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:112046600-112047800	Weak transcription	HMEC	breast
20	chr2:112047000-112047400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:112047000-112048400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:112047600-112047800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:112047600-112048800	Enhancers	NHEK	skin
24	chr2:112047800-112048600	Weak transcription	Placenta	Placenta
25	chr2:112047800-112049600	Enhancers	HMEC	breast
26	chr2:112047800-112052400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:112048000-112048800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:112048400-112048600	Enhancers	Pancreas	Pancrea
29	chr2:112048400-112048800	Enhancers	Liver	Liver
30	chr2:112048400-112049000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:112048600-112048800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:112048600-112048800	Enhancers	Placenta	Placenta
33	chr2:112048600-112049400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:112048600-112049600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:112048600-112051000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:112048800-112049200	Weak transcription	Liver	Liver
37	chr2:112048800-112049400	Weak transcription	Placenta	Placenta
38	chr2:112048800-112049600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:112048800-112049800	Enhancers	HSMMtube	muscle
40	chr2:112048800-112069600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:112049000-112050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:112049200-112049800	Enhancers	Liver	Liver
43	chr2:112049400-112049600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:112049400-112049600	Enhancers	Placenta	Placenta
45	chr2:112049400-112050000	Weak transcription	K562	blood
46	chr2:112049400-112050200	Enhancers	Fetal Intestine Small	intestine
47	chr2:112049400-112051000	Enhancers	HepG2	liver
48	chr2:112049600-112050800	Weak transcription	Placenta	Placenta
49	chr2:112049800-112050200	Enhancers	Stomach Mucosa	stomach
50	chr2:112049800-112051000	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links