Variant report

Variant	nsv1055268
Chromosome Location	chr19:52131624-52158855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:510)
CpG islands
(count:673)
Chromatin interactive
region (count:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52140651-52140961	K562	blood:	n/a	n/a
2	ATF1	chr19:52154746-52155090	K562	blood:	n/a	n/a
3	ATF2	chr19:52154376-52154835	GM12878	blood:	n/a	n/a
4	BATF	chr19:52149947-52150214	GM12878	blood:	n/a	n/a
5	BATF	chr19:52133523-52133840	GM12878	blood:	n/a	n/a
6	BCL11A	chr19:52149937-52150305	GM12878	blood:	n/a	n/a
7	BCL11A	chr19:52133513-52133816	GM12878	blood:	n/a	n/a
8	BCL3	chr19:52131741-52132214	GM12878	blood:	n/a	n/a
9	BCL3	chr19:52131621-52132296	GM12878	blood:	n/a	n/a
10	BHLHE40	chr19:52133577-52133941	GM12878	blood:	n/a	chr19:52133745-52133754 chr19:52133745-52133754
11	BHLHE40	chr19:52133583-52133837	K562	blood:	n/a	chr19:52133745-52133754 chr19:52133745-52133754
12	BHLHE40	chr19:52147812-52147863	K562	blood:	n/a	n/a
13	BHLHE40	chr19:52150049-52150408	GM12878	blood:	n/a	chr19:52150169-52150178 chr19:52150169-52150178
14	BHLHE40	chr19:52150088-52150405	K562	blood:	n/a	chr19:52150169-52150178 chr19:52150169-52150178
15	BHLHE40	chr19:52154406-52154749	GM12878	blood:	n/a	n/a
16	CBX3	chr19:52157930-52158454	K562	blood:	n/a	n/a
17	CBX3	chr19:52140579-52140964	K562	blood:	n/a	n/a
18	CBX3	chr19:52157924-52158374	K562	blood:	n/a	n/a
19	CBX3	chr19:52140595-52141003	K562	blood:	n/a	n/a
20	CEBPB	chr19:52135381-52135805	MCF-7	breast:	n/a	n/a
21	CEBPB	chr19:52144962-52145257	HepG2	liver:	n/a	chr19:52145111-52145122
22	CEBPB	chr19:52135414-52135743	MCF-7	breast:	n/a	n/a
23	CEBPB	chr19:52135506-52135630	K562	blood:	n/a	n/a
24	CEBPB	chr19:52144983-52145193	IMR90	lung:	n/a	chr19:52145111-52145122
25	CEBPB	chr19:52144942-52145259	A549	lung:	n/a	chr19:52145111-52145122
26	CEBPB	chr19:52131571-52131646	K562	blood:	n/a	n/a
27	CEBPB	chr19:52145000-52145199	K562	blood:	n/a	chr19:52145111-52145122
28	CTCF	chr19:52140754-52140946	ProgFib	skin:	n/a	n/a
29	CTCF	chr19:52158200-52158350	HEK293	kidney:	n/a	n/a
30	CTCF	chr19:52140780-52140930	HCM	heart:	n/a	n/a
31	CTCF	chr19:52158235-52158294	NHEK	skin:	n/a	n/a
32	CTCF	chr19:52158000-52158150	A549	lung:	n/a	n/a
33	CTCF	chr19:52140740-52140890	AG10803	skin:	n/a	n/a
34	CTCF	chr19:52158220-52158370	GM12872	blood:	n/a	n/a
35	CTCF	chr19:52140759-52140929	Lung_OC	lung:	n/a	n/a
36	CTCF	chr19:52140780-52140930	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr19:52158160-52158310	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:52158094-52158453	K562	blood:	n/a	n/a
39	CTCF	chr19:52140641-52140958	A549	lung:	n/a	n/a
40	CTCF	chr19:52140760-52140910	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr19:52158246-52158342	LNCaP	prostate:	n/a	n/a
42	CTCF	chr19:52140740-52140890	NHEK	skin:	n/a	n/a
43	CTCF	chr19:52140723-52140918	A549	lung:	n/a	n/a
44	CTCF	chr19:52140720-52140870	GM12872	blood:	n/a	n/a
45	CTCF	chr19:52140800-52140950	BJ	skin:	n/a	n/a
46	CTCF	chr19:52140740-52140890	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr19:52140760-52140910	GM12873	blood:	n/a	n/a
48	CTCF	chr19:52140680-52140830	AG04450	lung:	n/a	n/a
49	CTCF	chr19:52140780-52140930	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr19:52140880-52141030	WI-38	lung:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52150233-52150283	HCF	heart:	n/a
2	chr19:52150634-52150684	A549	lung:	n/a
3	chr19:52150233-52150283	HCF	heart:	n/a
4	chr19:52150634-52150684	A549	lung:	n/a
5	chr19:52148354-52148404	HIPEpiC	eye:	n/a
6	chr19:52150233-52150283	HAEpiC	amniotic membrane:	n/a
7	chr19:52134296-52134346	PANC-1	pancreas:	n/a
8	chr19:52134296-52134346	SK-N-SH_RA	brain:	n/a
9	chr19:52133837-52133887	HepG2	liver:	n/a
10	chr19:52150230-52150280	NH-A	brain:	n/a
11	chr19:52134296-52134346	K562	blood:	n/a
12	chr19:52148354-52148404	RPTEC	kidney:	n/a
13	chr19:52140097-52140147	GM12892	blood:	n/a
14	chr19:52140097-52140147	SK-N-SH	brain:	n/a
15	chr19:52134393-52134443	SK-N-SH	brain:	n/a
16	chr19:52150230-52150280	PANC-1	pancreas:	n/a
17	chr19:52134289-52134339	PANC-1	pancreas:	n/a
18	chr19:52150233-52150283	PrEC	prostate:	n/a
19	chr19:52146598-52146648	BE2_C	brain:	n/a
20	chr19:52148354-52148404	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:52150634-52150684	NHBE	bronchial:	n/a
22	chr19:52146598-52146648	HMEC	breast:	n/a
23	chr19:52150634-52150684	T-47D	breast:	n/a
24	chr19:52148354-52148404	NB4	blood:	n/a
25	chr19:52133837-52133887	HL-60	blood:	n/a
26	chr19:52150233-52150283	NH-A	brain:	n/a
27	chr19:52150547-52150597	BE2_C	brain:	n/a
28	chr19:52146598-52146648	HCPEpiC	choroid plexus:	n/a
29	chr19:52134289-52134339	HAEpiC	amniotic membrane:	n/a
30	chr19:52134296-52134346	AG04450	lung:	fetal
31	chr19:52146598-52146648	HPAEpiC	pulmonary alveolar:	n/a
32	chr19:52150233-52150283	HL-60	blood:	n/a
33	chr19:52133837-52133887	HUVEC	blood vessel:	n/a
34	chr19:52134296-52134346	HCM	heart:	n/a
35	chr19:52134289-52134339	GM12891	blood:	n/a
36	chr19:52134296-52134346	HCF	heart:	n/a
37	chr19:52146598-52146648	AG10803	skin:	n/a
38	chr19:52134289-52134339	NT2-D1	testis:	n/a
39	chr19:52150634-52150684	HepG2	liver:	n/a
40	chr19:52134393-52134443	GM19239	blood:	n/a
41	chr19:52150634-52150684	PrEC	prostate:	n/a
42	chr19:52134393-52134443	Caco-2	colon:	n/a
43	chr19:52150547-52150597	NHBE	bronchial:	n/a
44	chr19:52146598-52146648	ProgFib	skin:	n/a
45	chr19:52148354-52148404	HL-60	blood:	n/a
46	chr19:52134393-52134443	SK-N-SH_RA	brain:	n/a
47	chr19:52150233-52150283	GM19239	blood:	n/a
48	chr19:52134296-52134346	AoSMC	blood vessel:	n/a
49	chr19:52150233-52150283	SAEC	small airway:	n/a
50	chr19:52133837-52133887	PFSK-1	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52127522..52129415-chr19:52131096..52132777,2	K562	blood:
2	chr19:51975813..51976889-chr19:52140105..52142089,6	K562	blood:
3	chr19:52110923..52111673-chr19:52140530..52141292,3	MCF-7	breast:
4	chr19:52110942..52111788-chr19:52140328..52140831,2	K562	blood:
5	chr19:51978649..51980839-chr19:52139351..52142005,2	K562	blood:
6	chr19:51924865..51925857-chr19:52140333..52141234,3	K562	blood:
7	chr19:51965493..51967976-chr19:52153295..52156025,2	K562	blood:
8	chr19:52143293..52145764-chr19:52146395..52148250,2	K562	blood:
9	chr19:52140352..52141294-chr19:52160036..52160673,2	K562	blood:
10	chr19:52123766..52126647-chr19:52131236..52133976,2	K562	blood:
11	chr19:52110556..52111829-chr19:52157738..52158676,7	MCF-7	breast:
12	chr19:51873847..51875580-chr19:52152831..52155624,2	K562	blood:
13	chr19:51960903..51963783-chr19:52139621..52141126,2	K562	blood:
14	chr19:52017645..52019212-chr19:52145235..52147486,2	MCF-7	breast:
15	chr19:52050848..52053096-chr19:52143769..52145532,2	K562	blood:
16	chr19:52143293..52145764-chr19:52146395..52148250,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIGLEC14-1	chr19:52133552-52133919	ENSG00000258669.1
2	lnc-SIGLEC14-1	chr19:52148730-52148798	ENSG00000258669.1
3	lnc-SIGLEC14-1	chr19:52133354-52133469	ENSG00000258669.1
4	lnc-ZNF175-5	chr19:52152115-52152863	NONHSAT067458

No data

Variant related genes	Relation type
SIGLEC14	TF binding region
ENSG00000268500	TF binding region
RPL7P51	TF binding region
SIGLEC5	TF binding region
SIGLEC14	CpG island
ENSG00000268500	CpG island
RPL7P51	CpG island
SIGLEC5	CpG island
ENSG00000213822	chromatin interactions
ENSG00000244071	chromatin interactions
ENSG00000105366	chromatin interactions

Extended variants
information (count: 1070 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551275627	chr19:52131628-52131629	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376043818	chr19:52131630-52131631	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140487852	chr19:52131633-52131634	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529684231	chr19:52131639-52131640	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117067216	chr19:52131676-52131677	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4284742	chr19:52131733-52131734	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs533614740	chr19:52131764-52131765	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369543991	chr19:52131769-52131770	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549990268	chr19:52131829-52131830	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551869907	chr19:52131841-52131842	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189440783	chr19:52131847-52131848	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537676688	chr19:52131853-52131854	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535163869	chr19:52131854-52131855	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556418978	chr19:52131861-52131862	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568302159	chr19:52131864-52131865	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535748139	chr19:52131865-52131866	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554618698	chr19:52131867-52131868	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573293747	chr19:52131868-52131869	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547487243	chr19:52131873-52131874	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201959820	chr19:52131879-52131880	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145384215	chr19:52131892-52131893	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534105106	chr19:52131894-52131895	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375195364	chr19:52131911-52131912	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192764024	chr19:52131923-52131924	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530284867	chr19:52131949-52131950	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542531443	chr19:52131954-52131955	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367901648	chr19:52131964-52131965	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558760530	chr19:52131974-52131975	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563104271	chr19:52131988-52131989	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559684942	chr19:52131995-52131996	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527322012	chr19:52132012-52132013	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62115012	chr19:52132015-52132016	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570257685	chr19:52132018-52132019	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34312547	chr19:52132021-52132022	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79762575	chr19:52132022-52132023	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531391836	chr19:52132023-52132024	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558766530	chr19:52132030-52132031	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549667657	chr19:52132037-52132038	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12985179	chr19:52132047-52132048	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568246341	chr19:52132051-52132052	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76663451	chr19:52132065-52132066	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12972069	chr19:52132077-52132078	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12985416	chr19:52132079-52132080	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554072262	chr19:52132086-52132087	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12972079	chr19:52132089-52132090	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12985427	chr19:52132091-52132092	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147684241	chr19:52132103-52132104	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367610643	chr19:52132111-52132112	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566852672	chr19:52132119-52132120	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113941446	chr19:52132202-52132203	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52125000-52133600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:52127800-52132400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
3	chr19:52128800-52133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:52129800-52132400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:52129800-52132400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:52130200-52132400	Weak transcription	Right Atrium	heart
7	chr19:52130400-52132400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr19:52130400-52132600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:52130600-52131800	Weak transcription	GM12878-XiMat	blood
10	chr19:52130800-52132400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:52130800-52133200	Weak transcription	Gastric	stomach
12	chr19:52131000-52133800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:52131000-52134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:52131400-52131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:52131400-52132200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr19:52131400-52132200	ZNF genes & repeats	Spleen	Spleen
17	chr19:52131400-52132400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:52131400-52132600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
19	chr19:52131600-52132200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:52131600-52132200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
21	chr19:52131800-52132000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr19:52131800-52132200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:52131800-52132200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:52131800-52132200	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr19:52131800-52132200	Bivalent/Poised TSS	Fetal Lung	lung
26	chr19:52131800-52132200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
27	chr19:52131800-52132200	Enhancers	GM12878-XiMat	blood
28	chr19:52132000-52132200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr19:52132000-52132200	Enhancers	Pancreas	Pancrea
30	chr19:52132200-52132400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:52132400-52132600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr19:52132400-52132600	Active TSS	Primary B cells from cord blood	blood
33	chr19:52132400-52132600	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:52132400-52132600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:52132400-52132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:52132400-52132800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:52132400-52133600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:52132600-52132800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr19:52132600-52132800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr19:52132600-52133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:52132600-52133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:52132600-52133800	Weak transcription	Primary B cells from cord blood	blood
43	chr19:52132600-52133800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:52132600-52134600	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr19:52132800-52133000	Enhancers	Primary B cells from peripheral blood	blood
46	chr19:52132800-52133800	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr19:52132800-52133800	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:52133000-52133400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:52133400-52133600	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:52133600-52133800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links