Variant report

Variant	esv3407754
Chromosome Location	chr16:31020976-31023274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr16:31022461-31022558	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr16:31021512-31021519	GM19238	blood:	n/a	n/a
3	CTCF	chr16:31021400-31021550	GM12865	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
4	CTCF	chr16:31021460-31021610	HAc	cerebellar:	n/a	chr16:31021462-31021480
5	CTCF	chr16:31021380-31021530	WI-38	lung:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
6	CTCF	chr16:31021300-31021450	HVMF	connective:	n/a	n/a
7	CTCF	chr16:31021400-31021550	GM12873	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
8	CTCF	chr16:31021455-31021557	GM13977	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
9	CTCF	chr16:31021440-31021590	AG04449	skin:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
10	CTCF	chr16:31021382-31021578	H1-hESC	embryonic stem cell:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
11	CTCF	chr16:31021440-31021590	HA-sp	spinal cord:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
12	CTCF	chr16:31021380-31021530	BJ	skin:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
13	CTCF	chr16:31021160-31021310	HCM	heart:	n/a	n/a
14	CTCF	chr16:31021360-31021510	SK-N-SH_RA	brain:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
15	CTCF	chr16:31021340-31021490	HBMEC	blood vessel:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
16	CTCF	chr16:31021400-31021550	AG09309	skin:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
17	CTCF	chr16:31021272-31021618	H1-hESC	embryonic stem cell:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
18	CTCF	chr16:31021340-31021490	NHDF-neo	bronchial:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
19	CTCF	chr16:31021360-31021510	HFF-Myc	foreskin:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
20	CTCF	chr16:31021420-31021570	HMF	breast:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
21	CTCF	chr16:31021360-31021510	GM12871	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
22	CTCF	chr16:31021430-31021540	GM10266	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
23	CTCF	chr16:31021380-31021530	GM12873	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
24	CTCF	chr16:31021360-31021510	HRPEpiC	eye:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
25	CTCF	chr16:31021337-31021587	K562	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
26	CTCF	chr16:31021400-31021550	AG09319	gingival:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
27	CTCF	chr16:31021320-31021550	HBMEC	blood vessel:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
28	CTCF	chr16:31021420-31021570	SK-N-SH_RA	brain:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
29	CTCF	chr16:31021380-31021530	SAEC	small airway:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
30	CTCF	chr16:31021430-31021526	GM10248	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
31	CTCF	chr16:31021423-31021521	GM12892	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
32	CTCF	chr16:31021360-31021510	BE2_C	brain:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
33	CTCF	chr16:31021400-31021550	HEK293	kidney:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
34	CTCF	chr16:31021413-31021549	Hela-S3	cervix:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
35	CTCF	chr16:31021320-31021470	GM12875	blood:	n/a	n/a
36	CTCF	chr16:31021404-31021567	K562	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
37	CTCF	chr16:31021454-31021534	HepG2	liver:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
38	CTCF	chr16:31021456-31021506	GM19238	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
39	CTCF	chr16:31021415-31021562	Gliobla	brain:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
40	CTCF	chr16:31021360-31021510	HMF	breast:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
41	CTCF	chr16:31021240-31021390	AG04450	lung:	n/a	n/a
42	CTCF	chr16:31021300-31021450	GM06990	blood:	n/a	n/a
43	CTCF	chr16:31021420-31021570	NHDF-neo	bronchial:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
44	CTCF	chr16:31021398-31021506	SK-N-SH_RA	brain:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
45	CTCF	chr16:31021340-31021490	HPF	lung:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
46	CTCF	chr16:31021400-31021550	AoAF	blood vessel:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
47	CTCF	chr16:31021440-31021590	AG04450	lung:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
48	CTCF	chr16:31021420-31021570	GM12873	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
49	CTCF	chr16:31021308-31021570	K562	blood:	n/a	chr16:31021462-31021480 chr16:31021457-31021478
50	CTCF	chr16:31021380-31021530	HMEC	breast:	n/a	chr16:31021462-31021480 chr16:31021457-31021478

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31021905-31021955	K562	blood:	n/a
2	chr16:31022521-31022571	HAEpiC	amniotic membrane:	n/a
3	chr16:31022521-31022571	H1-hESC	embryonic stem cell:	embryo
4	chr16:31022372-31022422	HepG2	liver:	n/a
5	chr16:31021905-31021955	GM12891	blood:	n/a
6	chr16:31021544-31021594	HRE	kidney:	n/a
7	chr16:31021905-31021955	HIPEpiC	eye:	n/a
8	chr16:31021544-31021594	GM06990	blood:	n/a
9	chr16:31022351-31022401	PrEC	prostate:	n/a
10	chr16:31022521-31022571	BJ	skin:	n/a
11	chr16:31022521-31022571	MCF10A-Er-Src	breast:	n/a
12	chr16:31022372-31022422	BJ	skin:	n/a
13	chr16:31021905-31021955	CMK	blood:	n/a
14	chr16:31022234-31022284	HPAEpiC	pulmonary alveolar:	n/a
15	chr16:31022234-31022284	A549	lung:	n/a
16	chr16:31021544-31021594	NB4	blood:	n/a
17	chr16:31022521-31022571	IMR90	lung:	fetal
18	chr16:31022372-31022422	NB4	blood:	n/a
19	chr16:31022234-31022284	CMK	blood:	n/a
20	chr16:31022372-31022422	Caco-2	colon:	n/a
21	chr16:31022372-31022422	GM12892	blood:	n/a
22	chr16:31022351-31022401	HAEpiC	amniotic membrane:	n/a
23	chr16:31022234-31022284	AoSMC	blood vessel:	n/a
24	chr16:31021905-31021955	PFSK-1	brain:	n/a
25	chr16:31021933-31021983	SKMC	muscle:	n/a
26	chr16:31022351-31022401	HNPCEpiC	eye:	n/a
27	chr16:31021933-31021983	ProgFib	skin:	n/a
28	chr16:31022234-31022284	HIPEpiC	eye:	n/a
29	chr16:31022521-31022571	BE2_C	brain:	n/a
30	chr16:31022351-31022401	HMEC	breast:	n/a
31	chr16:31022521-31022571	LNCaP	prostate:	n/a
32	chr16:31021544-31021594	HNPCEpiC	eye:	n/a
33	chr16:31022521-31022571	Hepatocyte	liver:	n/a
34	chr16:31022351-31022401	T-47D	breast:	n/a
35	chr16:31021933-31021983	SK-N-MC	brain:	n/a
36	chr16:31021933-31021983	CMK	blood:	n/a
37	chr16:31022521-31022571	PANC-1	pancreas:	n/a
38	chr16:31022234-31022284	AG04450	lung:	fetal
39	chr16:31021933-31021983	GM12878	blood:	n/a
40	chr16:31022521-31022571	AG09319	gingival:	n/a
41	chr16:31021544-31021594	HUVEC	blood vessel:	n/a
42	chr16:31022351-31022401	SK-N-MC	brain:	n/a
43	chr16:31022234-31022284	ovcar-3	ovarian:	n/a
44	chr16:31022372-31022422	CMK	blood:	n/a
45	chr16:31022521-31022571	AG04449	skin:	fetal
46	chr16:31022372-31022422	NH-A	brain:	n/a
47	chr16:31022372-31022422	ECC-1	luminal epithelium:	n/a
48	chr16:31022521-31022571	HRE	kidney:	n/a
49	chr16:31022351-31022401	BJ	skin:	n/a
50	chr16:31022521-31022571	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31018219..31021809-chr16:31044070..31046311,3	K562	blood:
2	chr16:30996163..30997045-chr16:31021392..31021945,2	MCF-7	breast:
3	chr16:31021441..31023477-chr16:31083604..31085649,2	MCF-7	breast:
4	chr16:30797763..30800233-chr16:31019158..31021994,2	K562	blood:
5	chr16:31010991..31014838-chr16:31020635..31023865,5	MCF-7	breast:
6	chr16:31018157..31021471-chr16:31041251..31044344,3	K562	blood:
7	chr16:31007064..31010034-chr16:31018671..31022251,4	MCF-7	breast:
8	chr16:31014981..31017878-chr16:31019821..31021502,2	MCF-7	breast:

Variant related genes	Relation type
STX1B	TF binding region
STX1B	CpG island
ENSG00000099377	chromatin interactions
ENSG00000099365	chromatin interactions
ENSG00000102870	chromatin interactions
ENSG00000103496	chromatin interactions
ENSG00000167394	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77324863	chr16:31021015-31021016	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs186050757	chr16:31021024-31021025	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs563068558	chr16:31021058-31021059	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs7184567	chr16:31021078-31021079	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs112628434	chr16:31021084-31021085	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs149903168	chr16:31021133-31021134	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111494856	chr16:31021175-31021176	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs146170267	chr16:31021202-31021203	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs189291300	chr16:31021203-31021204	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552302462	chr16:31021246-31021247	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs571103298	chr16:31021268-31021269	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs538494751	chr16:31021301-31021302	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs181757054	chr16:31021320-31021321	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569070870	chr16:31021381-31021382	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs574609234	chr16:31021544-31021545	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs554606261	chr16:31021549-31021550	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs572921870	chr16:31021569-31021570	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs533862623	chr16:31021606-31021607	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs558720094	chr16:31021623-31021624	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs577491764	chr16:31021670-31021671	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs373070887	chr16:31021678-31021679	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs141993064	chr16:31021706-31021707	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs377583690	chr16:31021762-31021763	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs544500782	chr16:31021771-31021772	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs563163290	chr16:31021813-31021814	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs575041259	chr16:31021814-31021815	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs140820592	chr16:31021880-31021881	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
28	rs12922289	chr16:31022139-31022140	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs560113163	chr16:31022147-31022148	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs535587855	chr16:31022220-31022221	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs75313385	chr16:31022321-31022322	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs375031348	chr16:31022372-31022373	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369337636	chr16:31022392-31022393	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs527722499	chr16:31022404-31022405	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371601445	chr16:31022487-31022488	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs74015061	chr16:31022535-31022536	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557405363	chr16:31022634-31022635	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs72800847	chr16:31022639-31022640	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs529923619	chr16:31022641-31022642	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569084780	chr16:31022648-31022649	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs536151381	chr16:31022756-31022757	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs548542632	chr16:31022765-31022766	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs371355110	chr16:31022851-31022852	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566458888	chr16:31022853-31022854	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs533797965	chr16:31022912-31022913	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs558657080	chr16:31022920-31022921	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576881558	chr16:31022965-31022966	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186274563	chr16:31023024-31023025	Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs538395371	chr16:31023075-31023076	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143126521	chr16:31023114-31023115	Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
2	chr16:31009800-31021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:31013800-31021000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:31016800-31021000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:31017000-31021000	Enhancers	NHLF	lung
6	chr16:31018000-31027400	Weak transcription	A549	lung
7	chr16:31018200-31021000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:31018600-31021000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:31018800-31022200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:31019000-31021000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:31019000-31021000	Enhancers	Osteobl	bone
12	chr16:31019200-31021000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:31019200-31021200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr16:31019600-31021000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:31019800-31021000	Enhancers	Fetal Brain Male	brain
16	chr16:31019800-31022200	Active TSS	Brain Anterior Caudate	brain
17	chr16:31020200-31021200	Weak transcription	HSMM	muscle
18	chr16:31020400-31021400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr16:31020400-31021400	Flanking Active TSS	NH-A	brain
20	chr16:31020400-31021600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:31020400-31023000	Active TSS	Brain Cingulate Gyrus	brain
22	chr16:31020600-31021000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr16:31020600-31021000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr16:31020600-31021000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:31020600-31021000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr16:31020600-31021200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr16:31020600-31021200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr16:31020600-31021400	Flanking Active TSS	Fetal Brain Female	brain
29	chr16:31020600-31022400	Active TSS	Brain Angular Gyrus	brain
30	chr16:31020600-31022600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:31020800-31021000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:31020800-31021000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr16:31020800-31021000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr16:31020800-31021000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:31020800-31021000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:31020800-31021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:31020800-31021000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:31020800-31021200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr16:31020800-31021200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr16:31020800-31021400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr16:31020800-31021400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:31020800-31021600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:31020800-31021600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:31020800-31022400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:31020800-31022600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr16:31021000-31021200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr16:31021000-31021200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:31021000-31021200	Enhancers	Brain Substantia Nigra	brain
49	chr16:31021000-31021200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr16:31021000-31021200	Active TSS	Osteobl	bone

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