Variant report

Variant	esv3341967
Chromosome Location	chr16:31152676-31155224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:672)
CpG islands
(count:244)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:31153267-31154009	HepG2	liver:	n/a	n/a
2	ATF2	chr16:31153663-31153969	GM12878	blood:	n/a	n/a
3	ATF3	chr16:31153733-31153996	K562	blood:	n/a	n/a
4	ATF3	chr16:31153739-31153988	A549	lung:	n/a	n/a
5	ATF3	chr16:31153638-31154073	A549	lung:	n/a	n/a
6	BACH1	chr16:31153705-31153905	K562	blood:	n/a	n/a
7	BACH1	chr16:31153460-31154322	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr16:31153571-31153953	GM12878	blood:	n/a	chr16:31153581-31153590
9	BCLAF1	chr16:31153574-31154147	K562	blood:	n/a	chr16:31153989-31154002 chr16:31153581-31153590
10	BCLAF1	chr16:31153598-31154140	GM12878	blood:	n/a	chr16:31153989-31154002
11	BHLHE40	chr16:31153653-31154271	GM12878	blood:	n/a	chr16:31154021-31154037 chr16:31154012-31154028
12	BHLHE40	chr16:31153229-31154083	HepG2	liver:	n/a	chr16:31154021-31154037 chr16:31154012-31154028
13	BHLHE40	chr16:31153102-31154218	K562	blood:	n/a	chr16:31154021-31154037 chr16:31154012-31154028
14	BHLHE40	chr16:31153708-31153964	A549	lung:	n/a	n/a
15	BRCA1	chr16:31153346-31154062	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr16:31153084-31153935	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr16:31153868-31153969	HepG2	liver:	n/a	n/a
18	CBX3	chr16:31153463-31154034	K562	blood:	n/a	n/a
19	CBX3	chr16:31153745-31154010	K562	blood:	n/a	n/a
20	CBX3	chr16:31153036-31153462	K562	blood:	n/a	n/a
21	CCNT2	chr16:31153479-31154319	K562	blood:	n/a	chr16:31153543-31153552
22	CEBPB	chr16:31153144-31154033	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr16:31153689-31153949	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPD	chr16:31153366-31154062	HepG2	liver:	n/a	n/a
25	CHD2	chr16:31153420-31153957	K562	blood:	n/a	n/a
26	CHD2	chr16:31153017-31153043	HepG2	liver:	n/a	n/a
27	CHD2	chr16:31153170-31154124	GM12878	blood:	n/a	n/a
28	CHD2	chr16:31153701-31153945	HepG2	liver:	n/a	n/a
29	CHD2	chr16:31153221-31154109	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr16:31153407-31153968	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr16:31153439-31154086	A549	lung:	n/a	n/a
32	CREB1	chr16:31153692-31153949	A549	lung:	n/a	n/a
33	CREB1	chr16:31153490-31154006	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr16:31154093-31154448	A549	lung:	n/a	n/a
35	CTBP2	chr16:31153189-31154374	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr16:31155009-31155306	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr16:31153840-31153990	HRE	kidney:	n/a	n/a
38	CTCF	chr16:31153749-31154030	Gliobla	brain:	n/a	n/a
39	CTCF	chr16:31153880-31154030	A549	lung:	n/a	n/a
40	CTCF	chr16:31153619-31154035	K562	blood:	n/a	n/a
41	CTCF	chr16:31154800-31154950	GM12872	blood:	n/a	n/a
42	CTCF	chr16:31155027-31155263	HepG2	liver:	n/a	n/a
43	CTCF	chr16:31154980-31155130	GM12871	blood:	n/a	n/a
44	CTCF	chr16:31153820-31153970	HMF	breast:	n/a	n/a
45	CTCF	chr16:31155080-31155230	K562	blood:	n/a	n/a
46	CTCF	chr16:31153820-31153970	HCFaa	heart:	n/a	n/a
47	CTCF	chr16:31153860-31154010	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr16:31153582-31154016	MCF-7	breast:	n/a	n/a
49	CTCF	chr16:31155060-31155210	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr16:31153753-31154022	GM19239	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31154357-31154407	AoSMC	blood vessel:	n/a
2	chr16:31153847-31153897	MCF-7	breast:	n/a
3	chr16:31153871-31153921	GM12891	blood:	n/a
4	chr16:31153847-31153897	HEK293	kidney:	embryo
5	chr16:31154357-31154407	NHDF-neo	bronchial:	n/a
6	chr16:31153847-31153897	GM19239	blood:	n/a
7	chr16:31153871-31153921	CMK	blood:	n/a
8	chr16:31154357-31154407	A549	lung:	n/a
9	chr16:31154636-31154686	AG09309	skin:	n/a
10	chr16:31153847-31153897	IMR90	lung:	fetal
11	chr16:31154636-31154686	LNCaP	prostate:	n/a
12	chr16:31154636-31154686	NH-A	brain:	n/a
13	chr16:31153847-31153897	AG04450	lung:	fetal
14	chr16:31154636-31154686	AoSMC	blood vessel:	n/a
15	chr16:31154357-31154407	HEEpiC	esophagus:	n/a
16	chr16:31153847-31153897	CMK	blood:	n/a
17	chr16:31154636-31154686	HCT-116	colon:	n/a
18	chr16:31153847-31153897	MCF10A-Er-Src	breast:	n/a
19	chr16:31153847-31153897	RPTEC	kidney:	n/a
20	chr16:31153847-31153897	H1-hESC	embryonic stem cell:	embryo
21	chr16:31154357-31154407	SAEC	small airway:	n/a
22	chr16:31154636-31154686	ProgFib	skin:	n/a
23	chr16:31154357-31154407	LNCaP	prostate:	n/a
24	chr16:31154636-31154686	HCM	heart:	n/a
25	chr16:31153847-31153897	GM06990	blood:	n/a
26	chr16:31153847-31153897	K562	blood:	n/a
27	chr16:31153871-31153921	SK-N-SH	brain:	n/a
28	chr16:31154357-31154407	BE2_C	brain:	n/a
29	chr16:31154636-31154686	HL-60	blood:	n/a
30	chr16:31154357-31154407	NHBE	bronchial:	n/a
31	chr16:31153871-31153921	SK-N-SH_RA	brain:	n/a
32	chr16:31154357-31154407	Hela-S3	cervix:	n/a
33	chr16:31153871-31153921	GM12892	blood:	n/a
34	chr16:31153871-31153921	HRCEpiC	kidney:	n/a
35	chr16:31154357-31154407	RPTEC	kidney:	n/a
36	chr16:31153871-31153921	HEK293	kidney:	embryo
37	chr16:31153847-31153897	PrEC	prostate:	n/a
38	chr16:31154357-31154407	H1-hESC	embryonic stem cell:	embryo
39	chr16:31154636-31154686	GM12891	blood:	n/a
40	chr16:31154636-31154686	GM12878	blood:	n/a
41	chr16:31153847-31153897	NHBE	bronchial:	n/a
42	chr16:31154357-31154407	AG10803	skin:	n/a
43	chr16:31153847-31153897	SK-N-SH_RA	brain:	n/a
44	chr16:31154636-31154686	PFSK-1	brain:	n/a
45	chr16:31154357-31154407	HCM	heart:	n/a
46	chr16:31154357-31154407	GM19239	blood:	n/a
47	chr16:31154357-31154407	HEK293	kidney:	embryo
48	chr16:31153871-31153921	BJ	skin:	n/a
49	chr16:31153871-31153921	AG09309	skin:	n/a
50	chr16:31154357-31154407	HUVEC	blood vessel:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31084133..31085236-chr16:31153737..31154390,3	K562	blood:
2	chr11:62608998..62609698-chr16:31153081..31153674,2	Hela-S3	cervix:
3	chr16:31147040..31149884-chr16:31151495..31154032,4	K562	blood:
4	chr16:31128280..31129161-chr16:31153696..31154318,2	MCF-7	breast:
5	chr16:31084138..31086184-chr16:31153280..31154871,2	K562	blood:
6	chr16:31105721..31106667-chr16:31153756..31154617,2	K562	blood:
7	chr16:30968166..30970668-chr16:31152878..31154603,2	MCF-7	breast:
8	chr16:30960272..30961849-chr16:31152765..31155468,2	K562	blood:
9	chr16:30965141..30965649-chr16:31153438..31153943,2	K562	blood:
10	chr16:31105355..31107694-chr16:31153094..31155338,3	MCF-7	breast:
11	chr16:31008133..31009095-chr16:31153695..31154390,2	K562	blood:
12	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
13	chr16:31116671..31117702-chr16:31153398..31154356,8	MCF-7	breast:
14	chr16:31104000..31106191-chr16:31152891..31155014,2	K562	blood:
15	chr16:30967863..30970561-chr16:31152190..31155312,3	K562	blood:
16	chr16:30996063..30997026-chr16:31153408..31154337,7	K562	blood:
17	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
18	chr16:31105856..31107685-chr16:31152830..31155240,2	MCF-7	breast:
19	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
20	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
21	chr16:31151491..31155912-chr16:31157765..31163894,11	MCF-7	breast:
22	chr16:31118165..31121962-chr16:31151611..31155077,5	K562	blood:
23	chr16:31152453..31155232-chr16:31471314..31474236,2	K562	blood:
24	chr16:31008117..31009690-chr16:31151800..31154471,2	K562	blood:
25	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
26	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
27	chr16:31154879..31157873-chr16:31200398..31203154,2	K562	blood:
28	chr16:31146490..31149050-chr16:31153299..31154926,2	K562	blood:
29	chr16:31152927..31156733-chr16:31157447..31161176,6	MCF-7	breast:
30	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
31	chr16:31128240..31128762-chr16:31153055..31153903,2	MCF-7	breast:
32	chr16:30967863..30970213-chr16:31152160..31153690,2	K562	blood:
33	chr16:31141919..31142861-chr16:31153390..31154088,2	MCF-7	breast:
34	chr16:31128897..31129595-chr16:31153311..31154293,4	MCF-7	breast:
35	chr16:31041654..31043180-chr16:31152068..31153898,2	K562	blood:
36	chr16:31044131..31046037-chr16:31153461..31155105,2	K562	blood:

No data

Variant related genes	Relation type
PRSS36	TF binding region
PRSS36	CpG island
ENSG00000099365	chromatin interactions
ENSG00000140691	chromatin interactions
ENSG00000103507	chromatin interactions
ENSG00000255439	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000099381	chromatin interactions
ENSG00000175938	chromatin interactions
ENSG00000167395	chromatin interactions
ENSG00000178226	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000103510	chromatin interactions
ENSG00000261385	chromatin interactions
ENSG00000099377	chromatin interactions
ENSG00000167397	chromatin interactions
ENSG00000103496	chromatin interactions
ENSG00000052344	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000260304	chromatin interactions
ENSG00000252809	chromatin interactions
ENSG00000262766	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376475452	chr16:31152695-31152696	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs369925717	chr16:31152696-31152697	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs373384591	chr16:31152697-31152698	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs373232190	chr16:31152698-31152699	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs535847788	chr16:31152714-31152715	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs369957694	chr16:31152715-31152716	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs144655709	chr16:31152716-31152717	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs889547	chr16:31152717-31152718	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201102478	chr16:31152722-31152723	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs375503767	chr16:31152723-31152724	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs371923521	chr16:31152745-31152746	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs374944657	chr16:31152751-31152752	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs542435620	chr16:31152758-31152759	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs186349611	chr16:31152759-31152760	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs368813383	chr16:31152765-31152766	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs372433953	chr16:31152766-31152767	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs34920231	chr16:31152768-31152769	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs369104884	chr16:31152787-31152788	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs540565456	chr16:31152790-31152791	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs143791588	chr16:31152808-31152809	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs148092091	chr16:31152809-31152810	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs117442264	chr16:31152818-31152819	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs150228670	chr16:31152856-31152857	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs139120097	chr16:31152857-31152858	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs143680005	chr16:31152858-31152859	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs145938370	chr16:31152873-31152874	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs145749002	chr16:31152920-31152921	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs138969109	chr16:31152947-31152948	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs8053474	chr16:31152953-31152954	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567100727	chr16:31152989-31152990	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs527934076	chr16:31152996-31152997	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs367979107	chr16:31153001-31153002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs201184372	chr16:31153008-31153009	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs189621061	chr16:31153048-31153049	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs35319087	chr16:31153094-31153095	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144586744	chr16:31153097-31153098	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs371668366	chr16:31153104-31153105	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs1549300	chr16:31153105-31153106	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148038859	chr16:31153136-31153137	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs141616851	chr16:31153139-31153140	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs145983457	chr16:31153176-31153177	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs577972181	chr16:31153191-31153192	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs572995530	chr16:31153202-31153203	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs374681914	chr16:31153247-31153248	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs540112966	chr16:31153251-31153252	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs141721966	chr16:31153274-31153275	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs368871809	chr16:31153294-31153295	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs201539532	chr16:31153306-31153307	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs558914630	chr16:31153329-31153330	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs577240699	chr16:31153337-31153338	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 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:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:31140400-31152800	Weak transcription	GM12878-XiMat	blood
5	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
8	chr16:31143800-31153000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:31144000-31152800	Weak transcription	Ovary	ovary
11	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:31144200-31153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:31144400-31153000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:31144400-31153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:31144800-31152800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:31144800-31152800	Weak transcription	Thymus	Thymus
17	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:31145200-31152800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:31145800-31153000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:31146400-31153000	Weak transcription	Brain Substantia Nigra	brain
22	chr16:31147400-31152800	Enhancers	Fetal Intestine Large	intestine
23	chr16:31147400-31154800	Enhancers	Placenta	Placenta
24	chr16:31147600-31152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:31147600-31153000	Weak transcription	Fetal Kidney	kidney
26	chr16:31148000-31153000	Weak transcription	Brain Germinal Matrix	brain
27	chr16:31149000-31152800	Enhancers	Fetal Intestine Small	intestine
28	chr16:31149400-31153600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:31149400-31153800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:31149400-31154000	Enhancers	Pancreas	Pancrea
31	chr16:31149400-31154000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr16:31149800-31153200	Enhancers	Lung	lung
33	chr16:31150400-31152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:31150600-31152800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr16:31150600-31152800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:31150600-31152800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:31150600-31152800	Weak transcription	Right Atrium	heart
38	chr16:31150600-31152800	Enhancers	NHEK	skin
39	chr16:31150600-31153000	Weak transcription	Aorta	Aorta
40	chr16:31150600-31153000	Enhancers	Right Ventricle	heart
41	chr16:31150600-31153000	Weak transcription	HSMM	muscle
42	chr16:31150600-31153000	Weak transcription	HSMMtube	muscle
43	chr16:31150800-31152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:31150800-31152800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr16:31150800-31152800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:31150800-31152800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:31150800-31152800	Enhancers	Colonic Mucosa	Colon
48	chr16:31150800-31152800	Weak transcription	Psoas Muscle	Psoas
49	chr16:31150800-31152800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr16:31150800-31152800	Enhancers	Rectal Mucosa Donor 31	rectum

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