Variant report

Variant	esv3426316
Chromosome Location	chr8:89338836-89341134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:360)
CpG islands
(count:793)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:89339970-89340526	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:89339348-89339655	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:89340633-89341291	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:89339912-89340356	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr8:89340913-89340957	GM12878	blood:	n/a	n/a
6	BHLHE40	chr8:89339920-89339967	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:89340853-89341256	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr8:89340655-89341229	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr8:89339348-89339671	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr8:89340123-89340278	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr8:89340904-89341270	GM12878	blood:	n/a	n/a
12	CHD2	chr8:89339603-89340305	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr8:89340715-89341308	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr8:89339079-89341269	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr8:89340900-89341050	GM12874	blood:	n/a	n/a
16	CTCF	chr8:89341040-89341190	HCT-116	colon:	n/a	n/a
17	CTCF	chr8:89340861-89341331	GM12878	blood:	n/a	n/a
18	CTCF	chr8:89340960-89341110	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr8:89340855-89341224	ProgFib	skin:	n/a	n/a
20	CTCF	chr8:89340960-89341110	GM12868	blood:	n/a	n/a
21	CTCF	chr8:89340980-89341130	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr8:89341060-89341210	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr8:89340900-89341050	GM12867	blood:	n/a	n/a
24	CTCF	chr8:89340980-89341130	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr8:89340988-89341185	HepG2	liver:	n/a	n/a
26	CTCF	chr8:89341040-89341190	GM12878	blood:	n/a	n/a
27	CTCF	chr8:89340980-89341130	AG04449	skin:	n/a	n/a
28	CTCF	chr8:89340840-89340990	GM12801	blood:	n/a	n/a
29	CTCF	chr8:89341080-89341230	HCM	heart:	n/a	n/a
30	CTCF	chr8:89341000-89341150	NHEK	skin:	n/a	n/a
31	CTCF	chr8:89341060-89341210	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr8:89340880-89341030	WI-38	lung:	n/a	n/a
33	CTCF	chr8:89340736-89341432	HCT-116	colon:	n/a	n/a
34	CTCF	chr8:89341020-89341170	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr8:89341080-89341230	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr8:89341000-89341150	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr8:89340280-89340430	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr8:89341020-89341170	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr8:89340980-89341130	GM12873	blood:	n/a	n/a
40	CTCF	chr8:89340940-89341090	SAEC	small airway:	n/a	n/a
41	CTCF	chr8:89340968-89341125	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr8:89340960-89341110	SAEC	small airway:	n/a	n/a
43	CTCF	chr8:89340940-89341210	GM12872	blood:	n/a	n/a
44	CTCF	chr8:89340859-89341259	MCF-7	breast:	n/a	n/a
45	CTCF	chr8:89340891-89341277	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:89341000-89341150	NHLF	lung:	n/a	n/a
47	CTCF	chr8:89340380-89340530	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr8:89340940-89341090	NHEK	skin:	n/a	n/a
49	CTCF	chr8:89341020-89341170	AG10803	skin:	n/a	n/a
50	CTCF	chr8:89341020-89341170	GM12872	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:89339819-89339869	Hela-S3	cervix:	n/a
2	chr8:89340069-89340119	AG04449	skin:	fetal
3	chr8:89339622-89339672	LNCaP	prostate:	n/a
4	chr8:89339404-89339454	HRE	kidney:	n/a
5	chr8:89341103-89341153	HUVEC	blood vessel:	n/a
6	chr8:89340205-89340255	Caco-2	colon:	n/a
7	chr8:89339080-89339130	IMR90	lung:	fetal
8	chr8:89339609-89339659	SK-N-SH	brain:	n/a
9	chr8:89339473-89339523	Caco-2	colon:	n/a
10	chr8:89340205-89340255	HepG2	liver:	n/a
11	chr8:89339473-89339523	BE2_C	brain:	n/a
12	chr8:89339622-89339672	MCF10A-Er-Src	breast:	n/a
13	chr8:89339080-89339130	SK-N-SH	brain:	n/a
14	chr8:89340205-89340255	NHBE	bronchial:	n/a
15	chr8:89340069-89340119	SK-N-SH	brain:	n/a
16	chr8:89339609-89339659	HAEpiC	amniotic membrane:	n/a
17	chr8:89340205-89340255	BJ	skin:	n/a
18	chr8:89340331-89340381	GM12878	blood:	n/a
19	chr8:89339609-89339659	HRE	kidney:	n/a
20	chr8:89339609-89339659	Hepatocyte	liver:	n/a
21	chr8:89340069-89340119	MCF10A-Er-Src	breast:	n/a
22	chr8:89340205-89340255	HAEpiC	amniotic membrane:	n/a
23	chr8:89340480-89340530	LNCaP	prostate:	n/a
24	chr8:89340750-89340800	SK-N-SH	brain:	n/a
25	chr8:89340331-89340381	ProgFib	skin:	n/a
26	chr8:89339609-89339659	GM19239	blood:	n/a
27	chr8:89340139-89340189	K562	blood:	n/a
28	chr8:89340069-89340119	AG04450	lung:	fetal
29	chr8:89339080-89339130	K562	blood:	n/a
30	chr8:89339404-89339454	PFSK-1	brain:	n/a
31	chr8:89340480-89340530	HNPCEpiC	eye:	n/a
32	chr8:89340139-89340189	RPTEC	kidney:	n/a
33	chr8:89339622-89339672	HCPEpiC	choroid plexus:	n/a
34	chr8:89340069-89340119	Hela-S3	cervix:	n/a
35	chr8:89340205-89340255	SAEC	small airway:	n/a
36	chr8:89339473-89339523	IMR90	lung:	fetal
37	chr8:89339819-89339869	U87	brain:	n/a
38	chr8:89341103-89341153	HRPEpiC	eye:	n/a
39	chr8:89340750-89340800	NHDF-neo	bronchial:	n/a
40	chr8:89340139-89340189	IMR90	lung:	fetal
41	chr8:89340331-89340381	NB4	blood:	n/a
42	chr8:89340750-89340800	ProgFib	skin:	n/a
43	chr8:89340205-89340255	Jurkat	blood:	n/a
44	chr8:89339609-89339659	BJ	skin:	n/a
45	chr8:89340750-89340800	SK-N-SH_RA	brain:	n/a
46	chr8:89339622-89339672	Jurkat	blood:	n/a
47	chr8:89341103-89341153	AG09309	skin:	n/a
48	chr8:89339819-89339869	AG04450	lung:	fetal
49	chr8:89340480-89340530	NH-A	brain:	n/a
50	chr8:89339473-89339523	K562	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:89340717..89341497-chr8:89823523..89824135,2	MCF-7	breast:
2	chr12:111736341..111736860-chr8:89340825..89341444,2	MCF-7	breast:
3	chr12:56509168..56511032-chr8:89338903..89341041,2	MCF-7	breast:
4	chr8:89336276..89338217-chr8:89340889..89343054,2	K562	blood:
5	chr8:89340595..89341565-chr8:89566032..89567395,11	MCF-7	breast:
6	chr8:89340294..89341947-chr8:89566335..89567397,24	MCF-7	breast:
7	chr8:89340700..89341308-chr8:89537775..89538662,2	MCF-7	breast:
8	chr8:89340837..89341409-chr8:89437211..89438075,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNBD1-4	chr8:89340073-89340127	ENSG00000253553.1
2	lnc-CNBD1-4	chr8:89340073-89340127	ENSG00000253553.1
3	lnc-CNBD1-4	chr8:89339065-89339421	ENSG00000253553.1

No data

Variant related genes	Relation type
MMP16	TF binding region
ENSG00000253553	TF binding region
MMP16	CpG island
ENSG00000253553	CpG island
ENSG00000229117	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544048492	chr8:89338927-89338928	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531316458	chr8:89338937-89338938	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549929498	chr8:89338971-89338972	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571526506	chr8:89338983-89338984	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565373791	chr8:89339006-89339007	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs28907876	chr8:89339011-89339012	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539246633	chr8:89339024-89339025	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547755449	chr8:89339070-89339071	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs566400164	chr8:89339090-89339091	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs112850884	chr8:89339171-89339172	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs59113801	chr8:89339209-89339210	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374375444	chr8:89339277-89339278	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs368329268	chr8:89339290-89339291	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs201235027	chr8:89339330-89339331	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs148050831	chr8:89339334-89339335	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs145799922	chr8:89339336-89339337	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs559124187	chr8:89339348-89339349	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs199761222	chr8:89339413-89339414	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs371894627	chr8:89339451-89339452	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs545229791	chr8:89339461-89339462	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560185506	chr8:89339537-89339538	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141747228	chr8:89339554-89339555	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572310376	chr8:89339555-89339556	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28907875	chr8:89339568-89339569	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs558766163	chr8:89339600-89339601	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs28907874	chr8:89339642-89339643	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs185159578	chr8:89339644-89339645	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs7828497	chr8:89339721-89339722	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs564670372	chr8:89339743-89339744	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs371882513	chr8:89339746-89339747	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs532585055	chr8:89339777-89339778	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs548015504	chr8:89339787-89339788	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs566194683	chr8:89339798-89339799	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs536960349	chr8:89339814-89339815	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548566743	chr8:89339817-89339818	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs370661101	chr8:89339819-89339820	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs570045872	chr8:89339831-89339832	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs537478194	chr8:89339860-89339861	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559085017	chr8:89339862-89339863	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570972742	chr8:89339873-89339874	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs376494855	chr8:89339876-89339877	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs553944876	chr8:89339877-89339878	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs370413894	chr8:89339898-89339899	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572215517	chr8:89339948-89339949	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs542536860	chr8:89339955-89339956	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs554470086	chr8:89339959-89339960	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs575615271	chr8:89339970-89339971	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575173446	chr8:89339977-89339978	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs141269456	chr8:89339984-89339985	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs7844169	chr8:89339993-89339994	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89333200-89341600	Active TSS	Fetal Brain Female	brain
2	chr8:89334600-89341600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:89335000-89341400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:89335000-89341400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:89335200-89341200	Active TSS	Brain Germinal Matrix	brain
6	chr8:89335800-89339000	Active TSS	Fetal Muscle Leg	muscle
7	chr8:89335800-89341200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:89336000-89340200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:89336000-89340800	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:89336000-89341000	Active TSS	Aorta	Aorta
11	chr8:89336000-89341000	Active TSS	Fetal Stomach	stomach
12	chr8:89336000-89341400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:89336000-89341400	Active TSS	Brain Angular Gyrus	brain
14	chr8:89336200-89341400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:89336200-89341400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:89336200-89341400	Active TSS	Brain Anterior Caudate	brain
17	chr8:89336400-89340800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:89336400-89341000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:89336400-89341200	Active TSS	Brain Cingulate Gyrus	brain
20	chr8:89336600-89340400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:89336800-89341200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:89337000-89341200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:89337000-89341400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:89337200-89341200	Active TSS	Fetal Kidney	kidney
25	chr8:89337200-89341400	Active TSS	NHDF-Ad	bronchial
26	chr8:89337200-89341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:89337400-89341000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:89337400-89341600	Active TSS	NH-A	brain
29	chr8:89337600-89341200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:89337600-89341200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:89337600-89341200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:89337600-89341200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr8:89337600-89341400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:89337800-89340800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:89337800-89341200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:89337800-89341200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:89337800-89341400	Active TSS	Fetal Brain Male	brain
38	chr8:89338000-89339400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:89338000-89341400	Active TSS	NHLF	lung
40	chr8:89338200-89339000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr8:89338200-89339400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:89338200-89340600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr8:89338200-89340800	Active TSS	Right Atrium	heart
44	chr8:89338200-89341200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:89338400-89339000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr8:89338400-89339000	Bivalent/Poised TSS	Fetal Thymus	thymus
47	chr8:89338400-89339000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr8:89338400-89339200	Active TSS	Psoas Muscle	Psoas
49	chr8:89338400-89339200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr8:89338400-89339600	Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links