Variant report

Variant	nsv52994
Chromosome Location	chr12:104696286-104701777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:856)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:104697088-104697497	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr12:104697078-104697471	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr12:104697454-104698517	A549	lung:	n/a	n/a
4	ATF3	chr12:104700621-104701745	A549	lung:	n/a	n/a
5	ATF3	chr12:104696811-104698807	A549	lung:	n/a	n/a
6	ATF3	chr12:104695309-104696337	A549	lung:	n/a	n/a
7	BCL3	chr12:104700457-104701828	A549	lung:	n/a	n/a
8	BCL3	chr12:104696463-104700456	A549	lung:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
9	BCL3	chr12:104696506-104698772	A549	lung:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
10	BCL3	chr12:104700897-104701864	A549	lung:	n/a	n/a
11	BCL3	chr12:104693440-104696416	A549	lung:	n/a	chr12:104694003-104694012
12	BCLAF1	chr12:104697263-104697996	GM12878	blood:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
13	BCLAF1	chr12:104697208-104697877	GM12878	blood:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
14	BHLHE40	chr12:104697129-104697745	A549	lung:	n/a	n/a
15	BHLHE40	chr12:104697132-104697778	GM12878	blood:	n/a	n/a
16	BRCA1	chr12:104696968-104696985	GM12878	blood:	n/a	n/a
17	CCNT2	chr12:104697487-104697804	K562	blood:	n/a	n/a
18	CEBPB	chr12:104700738-104701283	A549	lung:	n/a	chr12:104700902-104700913
19	CEBPB	chr12:104700797-104701052	Hela-S3	cervix:	n/a	chr12:104700902-104700913
20	CEBPB	chr12:104700729-104701083	IMR90	lung:	n/a	chr12:104700902-104700913
21	CEBPB	chr12:104698219-104698818	A549	lung:	n/a	n/a
22	CEBPB	chr12:104699561-104700117	A549	lung:	n/a	n/a
23	CEBPB	chr12:104698158-104698729	A549	lung:	n/a	n/a
24	CEBPB	chr12:104700599-104701327	A549	lung:	n/a	chr12:104700902-104700913
25	CEBPB	chr12:104700796-104701056	HepG2	liver:	n/a	chr12:104700902-104700913
26	CEBPB	chr12:104699470-104700199	A549	lung:	n/a	n/a
27	CEBPB	chr12:104697474-104697593	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr12:104697667-104697706	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr12:104697286-104697664	GM12878	blood:	n/a	n/a
30	CHD1	chr12:104697127-104697388	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr12:104697465-104697823	GM12878	blood:	n/a	n/a
32	CHD2	chr12:104697303-104697791	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:104696926-104696930	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr12:104697074-104698069	GM12878	blood:	n/a	n/a
35	CREB1	chr12:104697137-104697993	A549	lung:	n/a	n/a
36	CREB1	chr12:104697045-104697933	GM12878	blood:	n/a	n/a
37	CREB1	chr12:104697101-104698049	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr12:104697132-104698003	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:104697417-104697559	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr12:104696940-104697090	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr12:104699400-104699550	AG09319	gingival:	n/a	n/a
42	CTCF	chr12:104699480-104699630	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr12:104696760-104696910	GM12865	blood:	n/a	n/a
44	CTCF	chr12:104699480-104699630	AG10803	skin:	n/a	n/a
45	E2F4	chr12:104697377-104697596	GM12878	blood:	n/a	n/a
46	E2F6	chr12:104697060-104698610	A549	lung:	n/a	n/a
47	E2F6	chr12:104697260-104698027	A549	lung:	n/a	n/a
48	E2F6	chr12:104697290-104698057	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr12:104697133-104698232	H1-hESC	embryonic stem cell:	n/a	n/a
50	ELF1	chr12:104697418-104698560	A549	lung:	n/a	chr12:104697691-104697700

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104697389-104697439	HMEC	breast:	n/a
2	chr12:104697631-104697681	CMK	blood:	n/a
3	chr12:104697389-104697439	HMEC	breast:	n/a
4	chr12:104697631-104697681	CMK	blood:	n/a
5	chr12:104697532-104697582	T-47D	breast:	n/a
6	chr12:104699933-104699983	HRCEpiC	kidney:	n/a
7	chr12:104697983-104698033	GM19239	blood:	n/a
8	chr12:104699933-104699983	AoSMC	blood vessel:	n/a
9	chr12:104697532-104697582	GM19239	blood:	n/a
10	chr12:104697631-104697681	PFSK-1	brain:	n/a
11	chr12:104697220-104697270	HRPEpiC	eye:	n/a
12	chr12:104697389-104697439	SK-N-SH	brain:	n/a
13	chr12:104697532-104697582	GM12878	blood:	n/a
14	chr12:104697620-104697670	RPTEC	kidney:	n/a
15	chr12:104697532-104697582	BE2_C	brain:	n/a
16	chr12:104699933-104699983	HCPEpiC	choroid plexus:	n/a
17	chr12:104697220-104697270	MCF-7	breast:	n/a
18	chr12:104697631-104697681	NH-A	brain:	n/a
19	chr12:104697193-104697243	H1-hESC	embryonic stem cell:	embryo
20	chr12:104699933-104699983	NH-A	brain:	n/a
21	chr12:104697514-104697564	HIPEpiC	eye:	n/a
22	chr12:104697514-104697564	Caco-2	colon:	n/a
23	chr12:104697620-104697670	HUVEC	blood vessel:	n/a
24	chr12:104697224-104697274	SKMC	muscle:	n/a
25	chr12:104697631-104697681	ECC-1	luminal epithelium:	n/a
26	chr12:104697419-104697469	CMK	blood:	n/a
27	chr12:104697526-104697576	HUVEC	blood vessel:	n/a
28	chr12:104697532-104697582	HepG2	liver:	n/a
29	chr12:104697532-104697582	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:104697545-104697595	HIPEpiC	eye:	n/a
31	chr12:104697631-104697681	GM12878	blood:	n/a
32	chr12:104697631-104697681	PrEC	prostate:	n/a
33	chr12:104697526-104697576	AG04449	skin:	fetal
34	chr12:104697387-104697437	A549	lung:	n/a
35	chr12:104697526-104697576	SK-N-MC	brain:	n/a
36	chr12:104697220-104697270	HL-60	blood:	n/a
37	chr12:104697220-104697270	SKMC	muscle:	n/a
38	chr12:104697631-104697681	LNCaP	prostate:	n/a
39	chr12:104697419-104697469	HUVEC	blood vessel:	n/a
40	chr12:104697545-104697595	HUVEC	blood vessel:	n/a
41	chr12:104697224-104697274	HepG2	liver:	n/a
42	chr12:104697224-104697274	U87	brain:	n/a
43	chr12:104697545-104697595	HCPEpiC	choroid plexus:	n/a
44	chr12:104697193-104697243	AG09309	skin:	n/a
45	chr12:104697983-104698033	HL-60	blood:	n/a
46	chr12:104697419-104697469	MCF-7	breast:	n/a
47	chr12:104697620-104697670	SK-N-MC	brain:	n/a
48	chr12:104697514-104697564	ProgFib	skin:	n/a
49	chr12:104697620-104697670	H1-hESC	embryonic stem cell:	embryo
50	chr12:104697387-104697437	T-47D	breast:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104696590..104698591-chr12:104702374..104705113,2	MCF-7	breast:
2	chr12:104696124..104698662-chr12:104698839..104702205,3	MCF-7	breast:
3	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:
4	chr12:104681069..104682728-chr12:104694338..104697222,2	MCF-7	breast:
5	chr12:104698485..104699359-chr18:60383210..60383734,2	MCF-7	breast:
6	chr12:104697280..104698161-chr5:39074151..39074953,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
EID3	TF binding region
TXNRD1	CpG island
EID3	CpG island
ENSG00000198431	chromatin interactions
ENSG00000164327	chromatin interactions
ENSG00000255150	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76899958	chr12:104696286-104696287	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576531702	chr12:104696329-104696330	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182882288	chr12:104696348-104696349	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11111985	chr12:104696354-104696355	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs34871561	chr12:104696435-104696436	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34936529	chr12:104696469-104696470	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571811652	chr12:104696470-104696471	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563689095	chr12:104696489-104696490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532961656	chr12:104696501-104696502	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35781144	chr12:104696503-104696504	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10861188	chr12:104696518-104696519	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34742410	chr12:104696525-104696526	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529015254	chr12:104696565-104696566	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144508306	chr12:104696570-104696571	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372525993	chr12:104696575-104696576	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373561248	chr12:104696580-104696581	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188839594	chr12:104696603-104696604	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534868693	chr12:104696682-104696683	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192924558	chr12:104696701-104696702	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184361646	chr12:104696752-104696753	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367773389	chr12:104696773-104696774	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369776365	chr12:104696775-104696776	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551420589	chr12:104696785-104696786	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537647081	chr12:104696798-104696799	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539843100	chr12:104696809-104696810	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189553871	chr12:104696832-104696833	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73180135	chr12:104696881-104696882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs75797566	chr12:104696913-104696914	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377294132	chr12:104696995-104696996	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528298077	chr12:104697027-104697028	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535591485	chr12:104697075-104697076	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7488680	chr12:104697102-104697103	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs572304877	chr12:104697136-104697137	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541294514	chr12:104697165-104697166	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573755489	chr12:104697197-104697198	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564826486	chr12:104697225-104697226	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs578209515	chr12:104697242-104697243	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543392242	chr12:104697279-104697280	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs58078551	chr12:104697302-104697303	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528982347	chr12:104697387-104697388	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs539413805	chr12:104697409-104697410	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs559293640	chr12:104697412-104697413	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs11111986	chr12:104697420-104697421	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559548274	chr12:104697421-104697422	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528310949	chr12:104697428-104697429	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551672924	chr12:104697475-104697476	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs537343294	chr12:104697493-104697494	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571496486	chr12:104697533-104697534	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536979538	chr12:104697548-104697549	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs61937909	chr12:104697561-104697562	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683400-104696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
3	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
4	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
8	chr12:104685800-104696800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:104686000-104696800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:104686200-104696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:104686200-104700600	Strong transcription	Dnd41	blood
12	chr12:104686400-104697600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:104686800-104696600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:104687200-104696800	Weak transcription	Psoas Muscle	Psoas
15	chr12:104687200-104700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104687400-104696600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:104687400-104696600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:104687400-104696600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:104687400-104697000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:104687600-104697400	Weak transcription	Gastric	stomach
21	chr12:104689400-104696800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:104689400-104696800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:104689600-104696800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:104689600-104696800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:104689600-104696800	Weak transcription	Fetal Stomach	stomach
26	chr12:104689600-104697400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:104690000-104696600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:104690000-104696600	Weak transcription	Right Ventricle	heart
29	chr12:104690000-104696800	Weak transcription	Fetal Lung	lung
30	chr12:104690000-104696800	Weak transcription	Ovary	ovary
31	chr12:104690000-104696800	Weak transcription	Pancreas	Pancrea
32	chr12:104690200-104696800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:104690200-104696800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:104690200-104696800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:104690200-104696800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:104690200-104696800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:104690200-104697000	Weak transcription	Spleen	Spleen
38	chr12:104690400-104696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:104690400-104696800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:104690400-104697600	Weak transcription	Lung	lung
41	chr12:104690600-104696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:104690600-104696800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:104690600-104696800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:104690600-104697000	Weak transcription	HSMMtube	muscle
45	chr12:104690800-104696600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:104690800-104696800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:104690800-104696800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:104690800-104696800	Weak transcription	Brain Substantia Nigra	brain
49	chr12:104690800-104696800	Weak transcription	Esophagus	oesophagus
50	chr12:104690800-104696800	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links