Variant report

Variant	nsv8970
Chromosome Location	chr12:40904094-40951213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:116)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:40908630-40909221	GM12878	blood:	n/a	n/a
2	ATF2	chr12:40908726-40909128	GM12878	blood:	n/a	n/a
3	BATF	chr12:40908736-40909168	GM12878	blood:	n/a	n/a
4	BATF	chr12:40905185-40905553	GM12878	blood:	n/a	n/a
5	BCL3	chr12:40908726-40909151	GM12878	blood:	n/a	chr12:40909008-40909017
6	CEBPB	chr12:40948982-40949253	A549	lung:	n/a	n/a
7	CEBPB	chr12:40939224-40939504	A549	lung:	n/a	chr12:40939330-40939341
8	CEBPB	chr12:40939178-40939504	HepG2	liver:	n/a	chr12:40939330-40939341
9	CTCF	chr12:40905080-40905230	GM12865	blood:	n/a	n/a
10	CTCF	chr12:40905098-40905152	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:40904980-40905130	GM12864	blood:	n/a	n/a
12	CTCF	chr12:40905102-40905184	GM12878	blood:	n/a	n/a
13	CTCF	chr12:40933595-40933643	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:40904971-40905281	GM12878	blood:	n/a	n/a
15	CTCF	chr12:40940800-40940950	A549	lung:	n/a	n/a
16	CTCF	chr12:40939240-40939390	A549	lung:	n/a	n/a
17	CTCF	chr12:40905069-40905132	GM19238	blood:	n/a	n/a
18	CTCF	chr12:40905058-40905108	GM12891	blood:	n/a	n/a
19	CTCF	chr12:40905140-40905209	LNCaP	prostate:	n/a	n/a
20	CTCF	chr12:40905040-40905190	GM06990	blood:	n/a	n/a
21	CTCF	chr12:40939360-40939510	HEK293	kidney:	n/a	n/a
22	CTCF	chr12:40926900-40927050	WI-38	lung:	n/a	n/a
23	CTCF	chr12:40921093-40921125	GM13976	blood:	n/a	n/a
24	E2F4	chr12:40927953-40928008	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr12:40931216-40931218	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr12:40914481-40914544	GM12878	blood:	n/a	n/a
27	EBF1	chr12:40908877-40909077	GM12878	blood:	n/a	n/a
28	EP300	chr12:40908979-40909091	GM12878	blood:	n/a	n/a
29	EP300	chr12:40932507-40932519	GM12878	blood:	n/a	n/a
30	ESR1	chr12:40904831-40905370	T-47D	breast:	n/a	n/a
31	ESR1	chr12:40904824-40905341	T-47D	breast:	n/a	n/a
32	ESR1	chr12:40904852-40905322	T-47D	breast:	n/a	n/a
33	ESR1	chr12:40904953-40905328	T-47D	breast:	n/a	n/a
34	ESR1	chr12:40904825-40905394	T-47D	breast:	n/a	n/a
35	ESR1	chr12:40904934-40905379	T-47D	breast:	n/a	n/a
36	FOS	chr12:40946697-40947050	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr12:40945346-40945542	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr12:40946737-40947031	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:40944224-40944355	MCF10A-Er-Src	breast:	n/a	chr12:40944339-40944346
40	FOS	chr12:40944264-40944413	MCF10A-Er-Src	breast:	n/a	chr12:40944339-40944346
41	FOS	chr12:40946701-40947049	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr12:40945352-40945545	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:40949093-40949234	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr12:40946701-40947036	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:40944172-40944443	MCF10A-Er-Src	breast:	n/a	chr12:40944339-40944346
46	FOXA1	chr12:40904952-40905280	T-47D	breast:	n/a	n/a
47	FOXA1	chr12:40940910-40941122	T-47D	breast:	n/a	n/a
48	FOXA1	chr12:40904958-40905268	T-47D	breast:	n/a	n/a
49	FOXM1	chr12:40908723-40909229	GM12878	blood:	n/a	n/a
50	GABPA	chr12:40918691-40919382	HL-60	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40938571-40938621	HCF	heart:	n/a
2	chr12:40938571-40938621	HRCEpiC	kidney:	n/a
3	chr12:40916109-40916159	Caco-2	colon:	n/a
4	chr12:40938465-40938515	ECC-1	luminal epithelium:	n/a
5	chr12:40915247-40915297	ProgFib	skin:	n/a
6	chr12:40938465-40938515	Caco-2	colon:	n/a
7	chr12:40916109-40916159	HEEpiC	esophagus:	n/a
8	chr12:40916109-40916159	NHDF-neo	bronchial:	n/a
9	chr12:40938465-40938515	K562	blood:	n/a
10	chr12:40916109-40916159	SKMC	muscle:	n/a
11	chr12:40916109-40916159	HCT-116	colon:	n/a
12	chr12:40916109-40916159	GM12891	blood:	n/a
13	chr12:40915247-40915297	HAEpiC	amniotic membrane:	n/a
14	chr12:40938465-40938515	Jurkat	blood:	n/a
15	chr12:40938465-40938515	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:40915247-40915297	PFSK-1	brain:	n/a
17	chr12:40916109-40916159	AG09309	skin:	n/a
18	chr12:40916109-40916159	Hepatocyte	liver:	n/a
19	chr12:40915247-40915297	NHDF-neo	bronchial:	n/a
20	chr12:40916109-40916159	BE2_C	brain:	n/a
21	chr12:40938465-40938515	GM12891	blood:	n/a
22	chr12:40915247-40915297	BE2_C	brain:	n/a
23	chr12:40938571-40938621	PANC-1	pancreas:	n/a
24	chr12:40938465-40938515	GM12892	blood:	n/a
25	chr12:40916109-40916159	HMEC	breast:	n/a
26	chr12:40938571-40938621	NHDF-neo	bronchial:	n/a
27	chr12:40916109-40916159	HCPEpiC	choroid plexus:	n/a
28	chr12:40938465-40938515	HRPEpiC	eye:	n/a
29	chr12:40938465-40938515	BE2_C	brain:	n/a
30	chr12:40938465-40938515	CMK	blood:	n/a
31	chr12:40938571-40938621	GM12878	blood:	n/a
32	chr12:40938571-40938621	Hepatocyte	liver:	n/a
33	chr12:40938571-40938621	H1-hESC	embryonic stem cell:	embryo
34	chr12:40916109-40916159	CMK	blood:	n/a
35	chr12:40938465-40938515	AG10803	skin:	n/a
36	chr12:40938465-40938515	HCPEpiC	choroid plexus:	n/a
37	chr12:40938571-40938621	NT2-D1	testis:	n/a
38	chr12:40916109-40916159	Hela-S3	cervix:	n/a
39	chr12:40938465-40938515	HEEpiC	esophagus:	n/a
40	chr12:40938465-40938515	NHDF-neo	bronchial:	n/a
41	chr12:40938465-40938515	HCM	heart:	n/a
42	chr12:40938571-40938621	AG09309	skin:	n/a
43	chr12:40938571-40938621	HUVEC	blood vessel:	n/a
44	chr12:40915247-40915297	T-47D	breast:	n/a
45	chr12:40915247-40915297	HepG2	liver:	n/a
46	chr12:40938465-40938515	HIPEpiC	eye:	n/a
47	chr12:40915247-40915297	HL-60	blood:	n/a
48	chr12:40938571-40938621	HIPEpiC	eye:	n/a
49	chr12:40938465-40938515	GM19239	blood:	n/a
50	chr12:40938465-40938515	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:
2	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:
3	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:

(count:116 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40940937-40940984	NONHSAT027737
2	lnc-MUC19-1	chr12:40940405-40940458	NONHSAT027737
3	lnc-CNTN1-1	chr12:40924075-40924122	XLOC_009713
4	lnc-MUC19-1	chr12:40939758-40939805	NONHSAT027737
5	lnc-CNTN1-1	chr12:40914381-40914579	NONHSAT140068
6	lnc-CNTN1-1	chr12:40924075-40924122	NONHSAT027733
7	lnc-MUC19-1	chr12:40940405-40940458	NONHSAT027728
8	lnc-CNTN1-1	chr12:40920898-40921589	NONHSAT027733
9	lnc-CNTN1-1	chr12:40917391-40917444	XLOC_009713
10	lnc-CNTN1-1	chr12:40921093-40921146	XLOC_009713
11	lnc-MUC19-1	chr12:40938441-40938494	NONHSAT027728
12	lnc-CNTN1-1	chr12:40918318-40919423	NONHSAT027733
13	lnc-CNTN1-1	chr12:40924260-40924313	XLOC_009713
14	lnc-CNTN1-1	chr12:40920898-40920951	XLOC_009713
15	lnc-CNTN1-1	chr12:40929567-40929611	XLOC_009713
16	lnc-MUC19-1	chr12:40939758-40939805	NONHSAT027728
17	lnc-CNTN1-1	chr12:40919180-40919232	XLOC_009713
18	lnc-MUC19-1	chr12:40938632-40938685	NONHSAT027728
19	lnc-CNTN1-1	chr12:40929006-40929059	NONHSAT027736
20	lnc-MUC19-1	chr12:40938852-40938899	NONHSAT027728
21	lnc-MUC19-1	chr12:40938852-40938899	NONHSAT027737
22	lnc-MUC19-1	chr12:40940937-40940984	NONHSAT027728
23	lnc-CNTN1-1	chr12:40915427-40915481	XLOC_009713
24	lnc-CNTN1-1	chr12:40924859-40926084	XLOC_009713
25	lnc-CNTN1-1	chr12:40914435-40914579	XLOC_009713
26	lnc-MUC19-1	chr12:40942380-40942433	NONHSAT027728
27	lnc-CNTN1-1	chr12:40925797-40925884	XLOC_009713
28	lnc-CNTN1-1	chr12:40916445-40916498	NONHSAT140068
29	lnc-MUC19-1	chr12:40940198-40940251	NONHSAT027737
30	lnc-CNTN1-1	chr12:40920898-40921589	XLOC_009713
31	lnc-CNTN1-1	chr12:40926031-40926084	XLOC_009713
32	lnc-CNTN1-1	chr12:40922059-40922109	NONHSAT027733
33	lnc-CNTN1-1	chr12:40914717-40914770	NONHSAT140068
34	lnc-CNTN1-1	chr12:40917194-40917247	XLOC_009713
35	lnc-CNTN1-1	chr12:40915276-40915329	NONHSAT140068
36	lnc-MUC19-1	chr12:40940198-40940251	NONHSAT027728
37	lnc-CNTN1-1	chr12:40930242-40930286	XLOC_009713
38	lnc-CNTN1-1	chr12:40920075-40920128	XLOC_009713
39	lnc-MUC19-1	chr12:40943399-40943446	NONHSAT027728
40	lnc-CNTN1-1	chr12:40928815-40928868	XLOC_009713
41	lnc-CNTN1-1	chr12:40917391-40917444	NONHSAT140068
42	lnc-CNTN1-1	chr12:40926827-40926880	XLOC_009713
43	lnc-CNTN1-1	chr12:40915427-40915481	NONHSAT140068
44	lnc-MUC19-1	chr12:40940937-40940984	NONHSAT027738
45	lnc-CNTN1-1	chr12:40917391-40917444	XLOC_009713
46	lnc-CNTN1-1	chr12:40917194-40917247	NONHSAT140068
47	lnc-MUC19-1	chr12:40936567-40936620	NONHSAT027728
48	lnc-CNTN1-1	chr12:40922059-40922109	XLOC_009713
49	lnc-CNTN1-1	chr12:40926827-40926880	XLOC_009713
50	lnc-CNTN1-1	chr12:40928513-40928545	XLOC_009713

No data

Variant related genes	Relation type
RNU6-713P	TF binding region
MUC19	TF binding region
RNU6-713P	CpG island
MUC19	CpG island
RPE	miRNA target sites
PCMTD2	miRNA target sites
PROM1	miRNA target sites
FAM98A	miRNA target sites
CLIC4	miRNA target sites
RRM2B	miRNA target sites
ARHGAP12	miRNA target sites
CALCOCO2	miRNA target sites
ZEB1	miRNA target sites
ARNTL	miRNA target sites
KIAA1191	miRNA target sites
YWHAG	miRNA target sites

Extended variants
information (count: 1571 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1571 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534128620	chr12:40904095-40904096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562084280	chr12:40904131-40904132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190763908	chr12:40904200-40904201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61913666	chr12:40904240-40904241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370459270	chr12:40904283-40904284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571062981	chr12:40904290-40904291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559871739	chr12:40904318-40904319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527412341	chr12:40904335-40904336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182953567	chr12:40904391-40904392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373733932	chr12:40904438-40904439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531380128	chr12:40904470-40904471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549790147	chr12:40904558-40904559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201121705	chr12:40904585-40904586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74617322	chr12:40904612-40904613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199692360	chr12:40904640-40904641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73112012	chr12:40904642-40904643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77925138	chr12:40904643-40904644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535718348	chr12:40904651-40904652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149145048	chr12:40904653-40904654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34935547	chr12:40904672-40904673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397850922	chr12:40904674-40904675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75499077	chr12:40904680-40904681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544738148	chr12:40904683-40904684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371043683	chr12:40904696-40904697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143280513	chr12:40904699-40904700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557878200	chr12:40904711-40904712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538395528	chr12:40904725-40904726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200797973	chr12:40904742-40904743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1838352	chr12:40904843-40904844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139156056	chr12:40904863-40904864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143178429	chr12:40904864-40904865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577997014	chr12:40904890-40904891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147088693	chr12:40904928-40904929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77190512	chr12:40904968-40904969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559709291	chr12:40904976-40904977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202012913	chr12:40904979-40904980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533519734	chr12:40905018-40905019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545613424	chr12:40905023-40905024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564394931	chr12:40905034-40905035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73112015	chr12:40905054-40905055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541843259	chr12:40905075-40905076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73112017	chr12:40905076-40905077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73112018	chr12:40905080-40905081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528350022	chr12:40905103-40905104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549830625	chr12:40905129-40905130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568020009	chr12:40905130-40905131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529188920	chr12:40905138-40905139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11176961	chr12:40905153-40905154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565834713	chr12:40905154-40905155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386762394	chr12:40905167-40905168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40899200-40904600	Weak transcription	GM12878-XiMat	blood
3	chr12:40904600-40905800	Enhancers	GM12878-XiMat	blood
4	chr12:40905800-40908000	Weak transcription	GM12878-XiMat	blood
5	chr12:40906800-40908000	Weak transcription	HMEC	breast
6	chr12:40907800-40908400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr12:40908000-40909800	Enhancers	GM12878-XiMat	blood
8	chr12:40908000-40910400	Enhancers	HMEC	breast
9	chr12:40908200-40910200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:40908400-40910200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:40908400-40910800	Enhancers	Dnd41	blood
12	chr12:40908600-40910000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:40908600-40910000	Enhancers	NHEK	skin
14	chr12:40908600-40910400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:40908800-40909800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:40908800-40909800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:40908800-40910000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:40908800-40910000	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:40909000-40909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:40909000-40910200	Enhancers	Colon Smooth Muscle	Colon
21	chr12:40909400-40909800	Enhancers	Fetal Thymus	thymus
22	chr12:40909400-40911800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:40909600-40910000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:40909800-40910200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:40911000-40911400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr12:40911800-40912800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:40911800-40913000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:40912000-40912400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:40912000-40912800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:40912200-40912600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:40912200-40913000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:40914200-40914400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:40915200-40915600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:40915600-40919400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:40918600-40919400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:40918800-40919200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:40918800-40919400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:40918800-40919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:40919000-40919400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:40919000-40919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:40928400-40929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:40928600-40929200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:40928800-40929200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:40936400-40936600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:40936600-40943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:40941600-40942200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:40943400-40944600	Enhancers	HMEC	breast
48	chr12:40943600-40944600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:40944600-40945600	Weak transcription	HMEC	breast
50	chr12:40944600-40945800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links