Variant report

Variant	esv3371117
Chromosome Location	chr22:29874452-29879050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:407)
CpG islands
(count:672)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:29874677-29874753	K562	blood:	n/a	n/a
2	ATF1	chr22:29876859-29877274	K562	blood:	n/a	chr22:29877047-29877061
3	ATF2	chr22:29876824-29877313	H1-hESC	embryonic stem cell:	n/a	chr22:29877047-29877061
4	ATF3	chr22:29876895-29877255	K562	blood:	n/a	n/a
5	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr22:29877630-29877960	K562	blood:	n/a	n/a
7	BACH1	chr22:29874505-29875008	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr22:29874650-29874757	K562	blood:	n/a	n/a
9	BHLHE40	chr22:29876615-29877342	K562	blood:	n/a	n/a
10	BRCA1	chr22:29876551-29877266	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr22:29876659-29877329	K562	blood:	n/a	n/a
12	CBX3	chr22:29876900-29877127	K562	blood:	n/a	n/a
13	CCNT2	chr22:29876392-29876480	K562	blood:	n/a	n/a
14	CCNT2	chr22:29877774-29877862	K562	blood:	n/a	chr22:29877810-29877819
15	CCNT2	chr22:29876839-29877354	K562	blood:	n/a	chr22:29877154-29877163
16	CHD2	chr22:29876574-29877980	H1-hESC	embryonic stem cell:	n/a	chr22:29877153-29877163
17	CHD2	chr22:29876939-29877217	GM12878	blood:	n/a	chr22:29877153-29877163
18	CHD2	chr22:29876225-29876306	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr22:29876627-29877354	K562	blood:	n/a	chr22:29877153-29877163
20	CHD2	chr22:29877654-29877842	K562	blood:	n/a	n/a
21	CREB1	chr22:29876533-29877398	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr22:29876690-29877264	K562	blood:	n/a	n/a
23	CREB1	chr22:29876556-29877462	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr22:29876930-29877300	GM12878	blood:	n/a	n/a
25	CREB1	chr22:29876713-29877449	K562	blood:	n/a	n/a
26	CTBP2	chr22:29876063-29877320	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTBP2	chr22:29877603-29878003	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr22:29877180-29877330	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr22:29877180-29877330	HAc	cerebellar:	n/a	n/a
30	CTCF	chr22:29877100-29877250	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr22:29877080-29877230	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr22:29877085-29877266	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr22:29877782-29877946	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr22:29877825-29877971	K562	blood:	n/a	n/a
35	CTCF	chr22:29877140-29877290	AG04449	skin:	n/a	n/a
36	CTCF	chr22:29877120-29877270	K562	blood:	n/a	n/a
37	CTCF	chr22:29877128-29877239	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr22:29877100-29877250	SAEC	small airway:	n/a	n/a
39	CTCF	chr22:29877130-29877272	GM10266	blood:	n/a	n/a
40	CTCF	chr22:29877180-29877330	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr22:29877123-29877290	GM19238	blood:	n/a	n/a
42	CTCF	chr22:29877060-29877210	GM12867	blood:	n/a	n/a
43	CTCF	chr22:29877140-29877290	HRE	kidney:	n/a	n/a
44	CTCF	chr22:29877180-29877330	HPF	lung:	n/a	n/a
45	CTCF	chr22:29877180-29877330	GM12868	blood:	n/a	n/a
46	CTCF	chr22:29876880-29877030	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr22:29877150-29877276	GM12891	blood:	n/a	n/a
48	CTCF	chr22:29877118-29877265	Fibrobl	skin:	n/a	n/a
49	CTCF	chr22:29877100-29877250	HEK293	kidney:	n/a	n/a
50	CTCF	chr22:29876806-29877394	K562	blood:	n/a	chr22:29877380-29877393

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29875592-29875642	PrEC	prostate:	n/a
2	chr22:29875592-29875642	PrEC	prostate:	n/a
3	chr22:29876945-29876995	MCF-7	breast:	n/a
4	chr22:29875991-29876041	T-47D	breast:	n/a
5	chr22:29876534-29876584	HRE	kidney:	n/a
6	chr22:29876363-29876413	AG09319	gingival:	n/a
7	chr22:29876534-29876584	GM19239	blood:	n/a
8	chr22:29876206-29876256	AoSMC	blood vessel:	n/a
9	chr22:29876945-29876995	Hela-S3	cervix:	n/a
10	chr22:29876942-29876992	Jurkat	blood:	n/a
11	chr22:29876363-29876413	Jurkat	blood:	n/a
12	chr22:29875991-29876041	HMEC	breast:	n/a
13	chr22:29875947-29875997	HMEC	breast:	n/a
14	chr22:29875578-29875628	U87	brain:	n/a
15	chr22:29876206-29876256	LNCaP	prostate:	n/a
16	chr22:29876945-29876995	IMR90	lung:	fetal
17	chr22:29877285-29877335	BE2_C	brain:	n/a
18	chr22:29875947-29875997	Hepatocyte	liver:	n/a
19	chr22:29875991-29876041	NB4	blood:	n/a
20	chr22:29876534-29876584	GM06990	blood:	n/a
21	chr22:29876942-29876992	SKMC	muscle:	n/a
22	chr22:29876206-29876256	HEK293	kidney:	embryo
23	chr22:29876534-29876584	LNCaP	prostate:	n/a
24	chr22:29875991-29876041	PFSK-1	brain:	n/a
25	chr22:29875947-29875997	HPAEpiC	pulmonary alveolar:	n/a
26	chr22:29875578-29875628	SAEC	small airway:	n/a
27	chr22:29875784-29875834	HPAEpiC	pulmonary alveolar:	n/a
28	chr22:29876363-29876413	PANC-1	pancreas:	n/a
29	chr22:29876945-29876995	SK-N-MC	brain:	n/a
30	chr22:29875784-29875834	PrEC	prostate:	n/a
31	chr22:29876206-29876256	NH-A	brain:	n/a
32	chr22:29875947-29875997	HIPEpiC	eye:	n/a
33	chr22:29876942-29876992	A549	lung:	n/a
34	chr22:29875784-29875834	Caco-2	colon:	n/a
35	chr22:29875784-29875834	SK-N-SH_RA	brain:	n/a
36	chr22:29875592-29875642	K562	blood:	n/a
37	chr22:29876363-29876413	SK-N-MC	brain:	n/a
38	chr22:29876206-29876256	K562	blood:	n/a
39	chr22:29875991-29876041	Hela-S3	cervix:	n/a
40	chr22:29875991-29876041	MCF-7	breast:	n/a
41	chr22:29876363-29876413	HPAEpiC	pulmonary alveolar:	n/a
42	chr22:29875991-29876041	GM12892	blood:	n/a
43	chr22:29876363-29876413	HIPEpiC	eye:	n/a
44	chr22:29875592-29875642	MCF10A-Er-Src	breast:	n/a
45	chr22:29876945-29876995	SK-N-SH_RA	brain:	n/a
46	chr22:29876363-29876413	ProgFib	skin:	n/a
47	chr22:29875947-29875997	GM12891	blood:	n/a
48	chr22:29875578-29875628	ProgFib	skin:	n/a
49	chr22:29876206-29876256	HMEC	breast:	n/a
50	chr22:29876363-29876413	BJ	skin:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29877857..29880129-chr22:29887823..29890747,2	MCF-7	breast:
2	chr22:29866168..29866984-chr22:29877594..29878224,2	K562	blood:
3	chr22:29877043..29879359-chr22:29911623..29914922,6	MCF-7	breast:
4	chr22:29663630..29665723-chr22:29877193..29880137,2	K562	blood:
5	chr22:29878444..29879004-chr22:29913024..29913767,2	MCF-7	breast:
6	chr22:29877541..29878058-chr22:29914348..29915105,2	MCF-7	breast:
7	chr22:29876640..29878874-chr22:29919748..29922123,2	K562	blood:
8	chr22:29783197..29785326-chr22:29874558..29877420,2	MCF-7	breast:
9	chr22:29877386..29878406-chr22:29912849..29914254,52	MCF-7	breast:
10	chr22:29877422..29878326-chr22:29912754..29914005,18	MCF-7	breast:
11	chr22:29877412..29878391-chr22:29912701..29914203,38	MCF-7	breast:
12	chr22:29878566..29879231-chr22:29913094..29913812,2	MCF-7	breast:
13	chr22:29876809..29879806-chr22:29881526..29883122,2	K562	blood:
14	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
15	chr22:29781578..29782726-chr22:29877337..29878344,7	MCF-7	breast:
16	chr22:29877072..29879814-chr22:29891846..29894236,2	MCF-7	breast:
17	chr22:29781864..29782673-chr22:29877575..29878342,2	MCF-7	breast:
18	chr22:29702481..29704174-chr22:29874105..29876353,2	K562	blood:
19	chr22:29877350..29878233-chr22:29913108..29913740,2	MCF-7	breast:
20	chr22:29865572..29868086-chr22:29877991..29879531,2	K562	blood:
21	chr22:29782475..29785188-chr22:29878200..29879873,2	MCF-7	breast:
22	chr22:29866353..29868086-chr22:29877604..29879531,2	K562	blood:
23	chr22:29873715..29877046-chr22:29940798..29944268,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP1B1-1	chr22:29876241-29876321	NONHSAT084703

No data

Variant related genes	Relation type
RFPL1S	TF binding region
NEFH	TF binding region
RFPL1S	CpG island
NEFH	CpG island
ENSG00000185340	chromatin interactions
ENSG00000182944	chromatin interactions
ENSG00000100296	chromatin interactions
ENSG00000100263	chromatin interactions
ENSG00000100280	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539307315	chr22:29874525-29874526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs557373019	chr22:29874534-29874535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs59221441	chr22:29874680-29874681	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs466679	chr22:29874695-29874696	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs572502749	chr22:29874728-29874729	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs539983648	chr22:29874741-29874742	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs371184016	chr22:29874755-29874756	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs165823	chr22:29874756-29874757	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542433005	chr22:29874759-29874760	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs563828633	chr22:29874767-29874768	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs536452563	chr22:29874772-29874773	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs531243198	chr22:29874776-29874777	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs201924016	chr22:29874794-29874795	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs190973562	chr22:29874814-29874815	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs541782332	chr22:29874838-29874839	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs564497181	chr22:29874872-29874873	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs528470289	chr22:29874875-29874876	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs184019772	chr22:29874916-29874917	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs568561918	chr22:29874923-29874924	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs187216344	chr22:29874970-29874971	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs550370501	chr22:29874993-29874994	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs568700790	chr22:29874998-29874999	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs191641888	chr22:29875048-29875049	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs557610349	chr22:29875052-29875053	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs145191558	chr22:29875059-29875060	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs571035747	chr22:29875063-29875064	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs533800479	chr22:29875121-29875122	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs527345556	chr22:29875125-29875126	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs555036991	chr22:29875143-29875144	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs540868856	chr22:29875154-29875155	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs148912863	chr22:29875176-29875177	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs544286487	chr22:29875202-29875203	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs183087493	chr22:29875266-29875267	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs554787034	chr22:29875277-29875278	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs78131720	chr22:29875315-29875316	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs546552216	chr22:29875317-29875318	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs564783214	chr22:29875335-29875336	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs539373166	chr22:29875353-29875354	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs116238994	chr22:29875413-29875414	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs59206935	chr22:29875443-29875444	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529428258	chr22:29875473-29875474	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs550658968	chr22:29875519-29875520	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs112036791	chr22:29875579-29875580	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs113906067	chr22:29875606-29875607	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs554700762	chr22:29875612-29875613	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs190153690	chr22:29875659-29875660	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs551127456	chr22:29875684-29875685	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs566783550	chr22:29875725-29875726	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs563936478	chr22:29875727-29875728	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs533800960	chr22:29875733-29875734	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873200-29875400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:29873400-29875800	Enhancers	K562	blood
3	chr22:29873600-29874800	Enhancers	Brain Substantia Nigra	brain
4	chr22:29873600-29874800	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:29873600-29875000	Enhancers	Dnd41	blood
6	chr22:29873600-29875600	Enhancers	Fetal Brain Male	brain
7	chr22:29873800-29874600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:29873800-29874600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr22:29873800-29874600	Flanking Active TSS	A549	lung
10	chr22:29873800-29874600	Bivalent Enhancer	HSMMtube	muscle
11	chr22:29873800-29874800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29873800-29875600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:29873800-29875800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr22:29873800-29876200	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr22:29873800-29876400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
17	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
18	chr22:29874000-29874600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr22:29874000-29874600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr22:29874000-29874800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:29874000-29875200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29874000-29876200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:29874200-29874600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:29874200-29874600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr22:29874200-29874600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:29874200-29874600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
27	chr22:29874200-29874800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr22:29874200-29874800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr22:29874200-29875000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29874200-29875200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr22:29874200-29875800	Enhancers	Ovary	ovary
32	chr22:29874200-29876000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr22:29874200-29876400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr22:29874400-29874600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr22:29874400-29874600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:29874400-29874600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:29874400-29874600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:29874400-29874600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr22:29874400-29874600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr22:29874400-29874600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:29874400-29874600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:29874400-29874600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
43	chr22:29874400-29874600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr22:29874400-29874600	Bivalent Enhancer	Esophagus	oesophagus
45	chr22:29874400-29874600	Bivalent Enhancer	Fetal Lung	lung
46	chr22:29874400-29874600	Bivalent Enhancer	Fetal Thymus	thymus
47	chr22:29874400-29874600	Bivalent Enhancer	Psoas Muscle	Psoas
48	chr22:29874400-29874600	Bivalent Enhancer	Thymus	Thymus
49	chr22:29874400-29874600	Bivalent Enhancer	Spleen	Spleen
50	chr22:29874400-29874600	Flanking Active TSS	HSMM	muscle

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