Variant report

Variant	nsv579970
Chromosome Location	chr19:52131119-52148804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:315)
CpG islands
(count:489)
Chromatin interactive
region (count:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:315 , 50 per page) page: 1 2 3 4 5 6 7

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	BATF	chr19:52133523-52133840	GM12878	blood:	n/a	n/a
3	BCL11A	chr19:52133513-52133816	GM12878	blood:	n/a	n/a
4	BCL3	chr19:52131621-52132296	GM12878	blood:	n/a	n/a
5	BCL3	chr19:52131741-52132214	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:52147812-52147863	K562	blood:	n/a	n/a
7	BHLHE40	chr19:52133577-52133941	GM12878	blood:	n/a	chr19:52133745-52133754 chr19:52133745-52133754
8	BHLHE40	chr19:52133583-52133837	K562	blood:	n/a	chr19:52133745-52133754 chr19:52133745-52133754
9	CBX3	chr19:52140595-52141003	K562	blood:	n/a	n/a
10	CBX3	chr19:52140579-52140964	K562	blood:	n/a	n/a
11	CEBPB	chr19:52135381-52135805	MCF-7	breast:	n/a	n/a
12	CEBPB	chr19:52145000-52145199	K562	blood:	n/a	chr19:52145111-52145122
13	CEBPB	chr19:52135414-52135743	MCF-7	breast:	n/a	n/a
14	CEBPB	chr19:52135506-52135630	K562	blood:	n/a	n/a
15	CEBPB	chr19:52144962-52145257	HepG2	liver:	n/a	chr19:52145111-52145122
16	CEBPB	chr19:52144942-52145259	A549	lung:	n/a	chr19:52145111-52145122
17	CEBPB	chr19:52144983-52145193	IMR90	lung:	n/a	chr19:52145111-52145122
18	CEBPB	chr19:52131571-52131646	K562	blood:	n/a	n/a
19	CTCF	chr19:52140780-52140930	AG09309	skin:	n/a	n/a
20	CTCF	chr19:52140760-52140910	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr19:52141103-52141138	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr19:52140740-52140890	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr19:52140675-52140967	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr19:52140800-52140950	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr19:52140720-52140870	AG04449	skin:	n/a	n/a
26	CTCF	chr19:52131585-52131650	GM13977	blood:	n/a	chr19:52131602-52131611
27	CTCF	chr19:52140760-52140910	GM12871	blood:	n/a	n/a
28	CTCF	chr19:52131507-52131690	K562	blood:	n/a	chr19:52131602-52131611
29	CTCF	chr19:52140660-52140810	BJ	skin:	n/a	n/a
30	CTCF	chr19:52140680-52140830	Caco-2	colon:	n/a	n/a
31	CTCF	chr19:52140780-52140930	HFF	foreskin:	n/a	n/a
32	CTCF	chr19:52140641-52140958	A549	lung:	n/a	n/a
33	CTCF	chr19:52140723-52140918	A549	lung:	n/a	n/a
34	CTCF	chr19:52140680-52140928	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr19:52140960-52141110	WI-38	lung:	n/a	n/a
36	CTCF	chr19:52140759-52140929	Lung_OC	lung:	n/a	n/a
37	CTCF	chr19:52140754-52140946	ProgFib	skin:	n/a	n/a
38	CTCF	chr19:52140596-52140952	K562	blood:	n/a	n/a
39	CTCF	chr19:52140700-52140850	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:52140740-52140890	GM12873	blood:	n/a	n/a
41	CTCF	chr19:52140729-52140884	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr19:52140780-52140930	HCM	heart:	n/a	n/a
43	CTCF	chr19:52140760-52140910	HMF	breast:	n/a	n/a
44	CTCF	chr19:52140740-52140890	NHEK	skin:	n/a	n/a
45	CTCF	chr19:52140760-52140910	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr19:52140040-52140190	GM06990	blood:	n/a	n/a
47	CTCF	chr19:52140840-52140990	A549	lung:	n/a	n/a
48	CTCF	chr19:52147697-52147711	K562	blood:	n/a	n/a
49	CTCF	chr19:52140740-52140890	GM12874	blood:	n/a	n/a
50	CTCF	chr19:52140720-52140870	HUVEC	blood vessel:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52131310-52131360	SK-N-SH_RA	brain:	n/a
2	chr19:52131310-52131360	SK-N-SH_RA	brain:	n/a
3	chr19:52131310-52131360	NB4	blood:	n/a
4	chr19:52134296-52134346	IMR90	lung:	fetal
5	chr19:52140097-52140147	BJ	skin:	n/a
6	chr19:52148354-52148404	K562	blood:	n/a
7	chr19:52134296-52134346	HRE	kidney:	n/a
8	chr19:52148354-52148404	HNPCEpiC	eye:	n/a
9	chr19:52134289-52134339	RPTEC	kidney:	n/a
10	chr19:52133837-52133887	HEK293	kidney:	embryo
11	chr19:52134393-52134443	SK-N-SH	brain:	n/a
12	chr19:52134393-52134443	AG04450	lung:	fetal
13	chr19:52131310-52131360	GM12892	blood:	n/a
14	chr19:52140097-52140147	NHBE	bronchial:	n/a
15	chr19:52131310-52131360	LNCaP	prostate:	n/a
16	chr19:52134289-52134339	BE2_C	brain:	n/a
17	chr19:52146598-52146648	HEK293	kidney:	embryo
18	chr19:52134296-52134346	AG10803	skin:	n/a
19	chr19:52134296-52134346	HMEC	breast:	n/a
20	chr19:52140097-52140147	BE2_C	brain:	n/a
21	chr19:52146598-52146648	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:52134296-52134346	ECC-1	luminal epithelium:	n/a
23	chr19:52134393-52134443	MCF-7	breast:	n/a
24	chr19:52140097-52140147	ProgFib	skin:	n/a
25	chr19:52131310-52131360	NT2-D1	testis:	n/a
26	chr19:52148354-52148404	HL-60	blood:	n/a
27	chr19:52134296-52134346	MCF10A-Er-Src	breast:	n/a
28	chr19:52134289-52134339	Jurkat	blood:	n/a
29	chr19:52146598-52146648	H1-hESC	embryonic stem cell:	embryo
30	chr19:52131310-52131360	GM12878	blood:	n/a
31	chr19:52134393-52134443	NHBE	bronchial:	n/a
32	chr19:52131310-52131360	SK-N-MC	brain:	n/a
33	chr19:52131310-52131360	AG04449	skin:	fetal
34	chr19:52148354-52148404	AG04449	skin:	fetal
35	chr19:52140097-52140147	Jurkat	blood:	n/a
36	chr19:52133837-52133887	A549	lung:	n/a
37	chr19:52146598-52146648	NB4	blood:	n/a
38	chr19:52134289-52134339	GM12891	blood:	n/a
39	chr19:52131310-52131360	NHDF-neo	bronchial:	n/a
40	chr19:52134393-52134443	AG09319	gingival:	n/a
41	chr19:52134393-52134443	ProgFib	skin:	n/a
42	chr19:52134289-52134339	K562	blood:	n/a
43	chr19:52134289-52134339	HIPEpiC	eye:	n/a
44	chr19:52134289-52134339	Caco-2	colon:	n/a
45	chr19:52148354-52148404	RPTEC	kidney:	n/a
46	chr19:52140097-52140147	HNPCEpiC	eye:	n/a
47	chr19:52131310-52131360	HRPEpiC	eye:	n/a
48	chr19:52134289-52134339	HCT-116	colon:	n/a
49	chr19:52134296-52134346	H1-hESC	embryonic stem cell:	embryo
50	chr19:52134296-52134346	K562	blood:	n/a

(count:13 , 50 per page) page: 1

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIGLEC14-1	chr19:52133354-52133469	ENSG00000258669.1
2	lnc-SIGLEC14-1	chr19:52133552-52133919	ENSG00000258669.1
3	lnc-SIGLEC14-1	chr19:52148730-52148798	ENSG00000258669.1

No data

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

Extended variants
information (count: 646 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2278831	chr19:52131119-52131120	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528680868	chr19:52131127-52131128	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375028282	chr19:52131136-52131137	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201936835	chr19:52131145-52131146	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149130627	chr19:52131177-52131178	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142273811	chr19:52131179-52131180	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151263979	chr19:52131180-52131181	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199698179	chr19:52131206-52131207	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201727320	chr19:52131208-52131209	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376870702	chr19:52131217-52131218	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200802674	chr19:52131235-52131236	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140633267	chr19:52131249-52131250	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149243374	chr19:52131256-52131257	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200984518	chr19:52131272-52131273	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78888545	chr19:52131282-52131283	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200062824	chr19:52131288-52131289	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61736487	chr19:52131296-52131297	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61736486	chr19:52131310-52131311	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113048597	chr19:52131328-52131329	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375504977	chr19:52131342-52131343	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376490830	chr19:52131343-52131344	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373321320	chr19:52131347-52131348	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549022941	chr19:52131353-52131354	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376361195	chr19:52131361-52131362	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557554987	chr19:52131385-52131386	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201036398	chr19:52131388-52131389	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377385749	chr19:52131395-52131396	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114835415	chr19:52131454-52131455	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561422392	chr19:52131464-52131465	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs151287209	chr19:52131503-52131504	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531680372	chr19:52131542-52131543	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532789744	chr19:52131563-52131564	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549508451	chr19:52131589-52131590	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:169 , 50 per page) page: 1 2 3 4

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	chr19:52129200-52131400	Genic enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:52129800-52132400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr19:52129800-52132400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:52130200-52131400	Strong transcription	Spleen	Spleen
8	chr19:52130200-52132400	Weak transcription	Right Atrium	heart
9	chr19:52130400-52132400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
10	chr19:52130400-52132600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:52130600-52131400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:52130600-52131400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr19:52130600-52131800	Weak transcription	GM12878-XiMat	blood
14	chr19:52130800-52131400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr19:52130800-52132400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:52130800-52133200	Weak transcription	Gastric	stomach
17	chr19:52131000-52133800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:52131000-52134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:52131400-52131600	Active TSS	Primary B cells from cord blood	blood
20	chr19:52131400-52131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:52131400-52132200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr19:52131400-52132200	ZNF genes & repeats	Spleen	Spleen
23	chr19:52131400-52132400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:52131400-52132600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
25	chr19:52131600-52132200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:52131600-52132200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
27	chr19:52131800-52132000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr19:52131800-52132200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:52131800-52132200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:52131800-52132200	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr19:52131800-52132200	Bivalent/Poised TSS	Fetal Lung	lung
32	chr19:52131800-52132200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
33	chr19:52131800-52132200	Enhancers	GM12878-XiMat	blood
34	chr19:52132000-52132200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
35	chr19:52132000-52132200	Enhancers	Pancreas	Pancrea
36	chr19:52132200-52132400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr19:52132400-52132600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr19:52132400-52132600	Active TSS	Primary B cells from cord blood	blood
39	chr19:52132400-52132600	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:52132400-52132600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:52132400-52132600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:52132400-52132800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr19:52132400-52133600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:52132600-52132800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr19:52132600-52132800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr19:52132600-52133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:52132600-52133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:52132600-52133800	Weak transcription	Primary B cells from cord blood	blood
49	chr19:52132600-52133800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:52132600-52134600	Active TSS	Primary neutrophils fromperipheralblood	blood

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