Variant report

Variant	esv987713
Chromosome Location	chr16:31163107-31173998
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	BHLHE40	chr16:31168457-31168738	K562	blood:	n/a	n/a
2	BRCA1	chr16:31165804-31166090	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr16:31171046-31171289	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr16:31165758-31166175	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr16:31170878-31171483	IMR90	lung:	n/a	n/a
6	CTCF	chr16:31171042-31171321	GM12878	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
7	CTCF	chr16:31171067-31171320	ProgFib	skin:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
8	CTCF	chr16:31170950-31171351	K562	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
9	CTCF	chr16:31171040-31171324	ECC-1	luminal epithelium:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
10	CTCF	chr16:31171080-31171310	GM10248	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
11	CTCF	chr16:31171120-31171270	HCM	heart:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
12	CTCF	chr16:31171100-31171250	HCFaa	heart:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
13	CTCF	chr16:31171060-31171210	HAc	cerebellar:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
14	CTCF	chr16:31171120-31171270	WI-38	lung:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
15	CTCF	chr16:31171080-31171230	GM12872	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
16	CTCF	chr16:31171080-31171230	K562	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
17	CTCF	chr16:31171100-31171250	BE2_C	brain:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
18	CTCF	chr16:31171100-31171250	AG10803	skin:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
19	CTCF	chr16:31171060-31171210	HRE	kidney:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
20	CTCF	chr16:31171100-31171250	SAEC	small airway:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
21	CTCF	chr16:31171080-31171230	RPTEC	kidney:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
22	CTCF	chr16:31171126-31171276	H1-hESC	embryonic stem cell:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
23	CTCF	chr16:31171140-31171290	HEK293	kidney:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
24	CTCF	chr16:31171080-31171230	GM12871	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
25	CTCF	chr16:31171100-31171250	HA-sp	spinal cord:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
26	CTCF	chr16:31171020-31171252	K562	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
27	CTCF	chr16:31171097-31171237	A549	lung:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
28	CTCF	chr16:31171091-31171281	GM10266	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
29	CTCF	chr16:31171080-31171230	A549	lung:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
30	CTCF	chr16:31171092-31171286	Kidney_OC	kidney:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
31	CTCF	chr16:31170963-31171389	HepG2	liver:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
32	CTCF	chr16:31171100-31171250	SK-N-SH_RA	brain:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
33	CTCF	chr16:31171029-31171332	HepG2	liver:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
34	CTCF	chr16:31171117-31171285	MCF-7	breast:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
35	CTCF	chr16:31171021-31171281	SK-N-SH_RA	brain:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
36	CTCF	chr16:31171042-31171288	HUVEC	blood vessel:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
37	CTCF	chr16:31171059-31171060	K562	blood:	n/a	n/a
38	CTCF	chr16:31171100-31171250	HPF	lung:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
39	CTCF	chr16:31171080-31171230	HCT-116	colon:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
40	CTCF	chr16:31171023-31171312	A549	lung:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
41	CTCF	chr16:31171080-31171230	BE2_C	brain:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
42	CTCF	chr16:31171120-31171270	GM12872	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
43	CTCF	chr16:31171080-31171230	HL-60	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
44	CTCF	chr16:31171060-31171210	GM12874	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
45	CTCF	chr16:31171100-31171250	Hela-S3	cervix:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
46	CTCF	chr16:31171120-31171270	HRPEpiC	eye:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
47	CTCF	chr16:31171080-31171230	GM06990	blood:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
48	CTCF	chr16:31171120-31171270	A549	lung:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
49	CTCF	chr16:31171100-31171250	WERI-Rb-1	eye:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186
50	CTCF	chr16:31171100-31171250	HMF	breast:	n/a	chr16:31171171-31171184 chr16:31171169-31171187 chr16:31171170-31171186

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31172726-31172776	BJ	skin:	n/a
2	chr16:31172726-31172776	NT2-D1	testis:	n/a
3	chr16:31172726-31172776	PFSK-1	brain:	n/a
4	chr16:31173269-31173319	BJ	skin:	n/a
5	chr16:31172726-31172776	AG04449	skin:	fetal
6	chr16:31172726-31172776	BE2_C	brain:	n/a
7	chr16:31173269-31173319	GM06990	blood:	n/a
8	chr16:31172726-31172776	MCF-7	breast:	n/a
9	chr16:31173269-31173319	SK-N-MC	brain:	n/a
10	chr16:31173269-31173319	HPAEpiC	pulmonary alveolar:	n/a
11	chr16:31172726-31172776	Hepatocyte	liver:	n/a
12	chr16:31173269-31173319	PrEC	prostate:	n/a
13	chr16:31173269-31173319	SAEC	small airway:	n/a
14	chr16:31172726-31172776	MCF10A-Er-Src	breast:	n/a
15	chr16:31172726-31172776	GM12878	blood:	n/a
16	chr16:31173269-31173319	CMK	blood:	n/a
17	chr16:31172726-31172776	HAEpiC	amniotic membrane:	n/a
18	chr16:31173269-31173319	GM12891	blood:	n/a
19	chr16:31172726-31172776	HCM	heart:	n/a
20	chr16:31173269-31173319	U87	brain:	n/a
21	chr16:31173269-31173319	ProgFib	skin:	n/a
22	chr16:31172726-31172776	HEK293	kidney:	embryo
23	chr16:31172726-31172776	ovcar-3	ovarian:	n/a
24	chr16:31172726-31172776	HCPEpiC	choroid plexus:	n/a
25	chr16:31172726-31172776	A549	lung:	n/a
26	chr16:31173269-31173319	NHDF-neo	bronchial:	n/a
27	chr16:31173269-31173319	HRPEpiC	eye:	n/a
28	chr16:31173269-31173319	HMEC	breast:	n/a
29	chr16:31173269-31173319	SK-N-SH_RA	brain:	n/a
30	chr16:31172726-31172776	HNPCEpiC	eye:	n/a
31	chr16:31173269-31173319	H1-hESC	embryonic stem cell:	embryo
32	chr16:31173269-31173319	Jurkat	blood:	n/a
33	chr16:31173269-31173319	HCF	heart:	n/a
34	chr16:31173269-31173319	Caco-2	colon:	n/a
35	chr16:31173269-31173319	HRE	kidney:	n/a
36	chr16:31172726-31172776	HCF	heart:	n/a
37	chr16:31173269-31173319	HCM	heart:	n/a
38	chr16:31172726-31172776	HUVEC	blood vessel:	n/a
39	chr16:31173269-31173319	LNCaP	prostate:	n/a
40	chr16:31172726-31172776	HRPEpiC	eye:	n/a
41	chr16:31172726-31172776	HRE	kidney:	n/a
42	chr16:31173269-31173319	HCT-116	colon:	n/a
43	chr16:31173269-31173319	NHBE	bronchial:	n/a
44	chr16:31173269-31173319	AG09309	skin:	n/a
45	chr16:31173269-31173319	Hela-S3	cervix:	n/a
46	chr16:31173269-31173319	BE2_C	brain:	n/a
47	chr16:31172726-31172776	GM06990	blood:	n/a
48	chr16:31173269-31173319	AG09319	gingival:	n/a
49	chr16:31173269-31173319	HL-60	blood:	n/a
50	chr16:31172726-31172776	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31153578..31155721-chr16:31165072..31166722,2	MCF-7	breast:
2	chr16:31153766..31155610-chr16:31168918..31171076,2	MCF-7	breast:
3	chr16:31164437..31166721-chr16:31189439..31192571,4	MCF-7	breast:
4	chr16:31157423..31159789-chr16:31170400..31172208,2	MCF-7	breast:
5	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
6	chr16:31169599..31172684-chr16:31190847..31193504,3	MCF-7	breast:
7	chr16:30963767..30965339-chr16:31164383..31165945,2	K562	blood:
8	chr16:31160306..31162053-chr16:31170615..31173768,3	MCF-7	breast:
9	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
10	chr16:30967872..30970200-chr16:31160526..31163254,2	K562	blood:
11	chr16:31165839..31168639-chr16:31188061..31189958,2	K562	blood:
12	chr16:31155383..31157939-chr16:31165219..31167593,2	K562	blood:
13	chr16:31172271..31174113-chr16:31178883..31180982,2	K562	blood:
14	chr16:31163570..31167428-chr16:31190002..31192096,4	MCF-7	breast:
15	chr16:31157987..31161829-chr16:31166001..31169725,4	K562	blood:
16	chr16:31172186..31178618-chr16:31189730..31194059,7	MCF-7	breast:
17	chr16:31157660..31164019-chr16:31188659..31195219,17	MCF-7	breast:
18	chr16:31158034..31160388-chr16:31169650..31172147,2	MCF-7	breast:
19	chr16:31171328..31173335-chr16:31191515..31193365,2	K562	blood:
20	chr16:31173753..31176753-chr16:31190233..31192788,3	K562	blood:
21	chr16:31163863..31166773-chr16:31190173..31192747,2	K562	blood:
22	chr16:31170386..31172385-chr16:31178863..31181752,2	MCF-7	breast:
23	chr16:31169023..31171168-chr16:31177918..31179785,2	K562	blood:
24	chr16:31168547..31171045-chr16:31190209..31192124,3	K562	blood:
25	chr16:31165273..31167495-chr16:31190173..31191698,2	K562	blood:
26	chr16:31145344..31147521-chr16:31171238..31173664,2	K562	blood:

Variant related genes	Relation type
PRSS36	TF binding region
ENSG00000263343	TF binding region
PRSS36	CpG island
ENSG00000263343	CpG island
ENSG00000260304	chromatin interactions
ENSG00000099381	chromatin interactions
ENSG00000052344	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000178226	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560773801	chr16:31163249-31163250	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs575723958	chr16:31163254-31163255	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs576597290	chr16:31163302-31163303	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147791039	chr16:31163306-31163307	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs551505093	chr16:31163335-31163336	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs11644470	chr16:31163368-31163369	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543615127	chr16:31163378-31163379	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs561964408	chr16:31163403-31163404	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs529106078	chr16:31163413-31163414	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148832160	chr16:31163441-31163442	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs142504149	chr16:31163502-31163503	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs7190802	chr16:31163531-31163532	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs532697920	chr16:31163601-31163602	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs77156138	chr16:31163635-31163636	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112398880	chr16:31163691-31163692	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs184489923	chr16:31163708-31163709	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs530916693	chr16:31163716-31163717	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs375649436	chr16:31163748-31163749	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368220243	chr16:31163933-31163934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537197324	chr16:31163957-31163958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116086192	chr16:31163992-31163993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567871695	chr16:31164000-31164001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs35246337	chr16:31164013-31164014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs118027920	chr16:31164014-31164015	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553727588	chr16:31164017-31164018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372361818	chr16:31164027-31164028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578256510	chr16:31164028-31164029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538638612	chr16:31164055-31164056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557363850	chr16:31164089-31164090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575643635	chr16:31164103-31164104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188949558	chr16:31164115-31164116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561690801	chr16:31164119-31164120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573515180	chr16:31164151-31164152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540897671	chr16:31164167-31164168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562406006	chr16:31164191-31164192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529997914	chr16:31164205-31164206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114830837	chr16:31164222-31164223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151020813	chr16:31164244-31164245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201410329	chr16:31164323-31164324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532806501	chr16:31164327-31164328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563300056	chr16:31164353-31164354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62057133	chr16:31164369-31164370	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192335316	chr16:31164501-31164502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs66939573	chr16:31164576-31164577	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538060854	chr16:31164644-31164645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547248574	chr16:31164664-31164665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs137879778	chr16:31164675-31164676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199601927	chr16:31164678-31164679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144835090	chr16:31164767-31164768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185613130	chr16:31164842-31164843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31154400-31190400	Weak transcription	Right Atrium	heart
2	chr16:31159600-31163800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:31160200-31163800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr16:31160200-31163800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:31160400-31163400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:31162000-31171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:31162600-31163800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:31163000-31163800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr16:31163000-31165200	Weak transcription	Hela-S3	cervix
10	chr16:31163000-31168200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:31163000-31168200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:31163000-31168600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:31163400-31163800	Enhancers	HMEC	breast
14	chr16:31163400-31163800	Enhancers	NHEK	skin
15	chr16:31163400-31168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:31163800-31168400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr16:31163800-31168400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:31165200-31166000	Enhancers	Hela-S3	cervix
19	chr16:31166000-31168800	Weak transcription	Hela-S3	cervix
20	chr16:31166600-31168000	Weak transcription	K562	blood
21	chr16:31167000-31168200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:31168000-31168200	Enhancers	K562	blood
23	chr16:31168200-31168600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:31168200-31168600	Bivalent Enhancer	HepG2	liver
25	chr16:31168200-31168800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:31168200-31168800	Flanking Active TSS	K562	blood
27	chr16:31168200-31169200	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:31168200-31169200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr16:31168200-31169200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:31168400-31168600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:31168400-31168600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:31168400-31168600	Enhancers	Fetal Heart	heart
33	chr16:31168400-31168800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:31168400-31168800	Enhancers	Primary B cells from peripheral blood	blood
35	chr16:31168400-31168800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr16:31168400-31168800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:31168400-31168800	Enhancers	Liver	Liver
38	chr16:31168400-31169000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr16:31168400-31169200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr16:31168600-31168800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr16:31168600-31168800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr16:31168600-31168800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr16:31168600-31168800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:31168600-31168800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr16:31168600-31168800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:31168600-31168800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr16:31168600-31168800	Bivalent Enhancer	Thymus	Thymus
48	chr16:31168600-31168800	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr16:31168600-31169000	Enhancers	Primary B cells from cord blood	blood
50	chr16:31168600-31169000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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