Variant report

Variant	nsv1058393
Chromosome Location	chr19:28366915-28460526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:366)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:28453293-28453547	GM12878	blood:	n/a	chr19:28453431-28453442 chr19:28453416-28453425
2	CEBPB	chr19:28375451-28375743	A549	lung:	n/a	n/a
3	CEBPB	chr19:28378818-28378941	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:28409910-28410170	HepG2	liver:	n/a	chr19:28410026-28410037 chr19:28410025-28410038
5	CEBPB	chr19:28421407-28421661	A549	lung:	n/a	n/a
6	CTCF	chr19:28457420-28457570	GM12872	blood:	n/a	n/a
7	CTCF	chr19:28457400-28457550	BE2_C	brain:	n/a	n/a
8	CTCF	chr19:28457340-28457490	HCM	heart:	n/a	n/a
9	CTCF	chr19:28400570-28400608	H1-hESC	embryonic stem cell:	n/a	chr19:28400583-28400596
10	CTCF	chr19:28457400-28457550	HCT-116	colon:	n/a	n/a
11	CTCF	chr19:28400404-28400679	K562	blood:	n/a	chr19:28400566-28400582 chr19:28400565-28400583 chr19:28400583-28400596 chr19:28400662-28400675
12	CTCF	chr19:28386500-28386650	HEK293	kidney:	n/a	n/a
13	CTCF	chr19:28457380-28457530	GM12868	blood:	n/a	n/a
14	CTCF	chr19:28457400-28457550	HepG2	liver:	n/a	n/a
15	CTCF	chr19:28457311-28457525	K562	blood:	n/a	n/a
16	CTCF	chr19:28457304-28457583	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr19:28400467-28400746	K562	blood:	n/a	chr19:28400700-28400709 chr19:28400566-28400582 chr19:28400565-28400583 chr19:28400583-28400596 chr19:28400662-28400675
18	CTCF	chr19:28386535-28386576	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:28457338-28457534	GM10266	blood:	n/a	n/a
20	CTCF	chr19:28457354-28457543	GM13976	blood:	n/a	n/a
21	CTCF	chr19:28400500-28400650	K562	blood:	n/a	chr19:28400566-28400582 chr19:28400565-28400583 chr19:28400583-28400596
22	CTCF	chr19:28457259-28457668	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:28431500-28431650	GM06990	blood:	n/a	n/a
24	CTCF	chr19:28457380-28457530	HCM	heart:	n/a	n/a
25	CTCF	chr19:28457380-28457530	GM12878	blood:	n/a	n/a
26	CTCF	chr19:28457320-28457470	SAEC	small airway:	n/a	n/a
27	CTCF	chr19:28457330-28457514	HepG2	liver:	n/a	n/a
28	CTCF	chr19:28457311-28457515	T-47D	breast:	n/a	n/a
29	CTCF	chr19:28457348-28457531	HepG2	liver:	n/a	n/a
30	CTCF	chr19:28457400-28457550	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr19:28457420-28457570	HRE	kidney:	n/a	n/a
32	CTCF	chr19:28386530-28386534	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:28457880-28458030	AG10803	skin:	n/a	n/a
34	CTCF	chr19:28457340-28457490	GM12868	blood:	n/a	n/a
35	CTCF	chr19:28457380-28457530	HCT-116	colon:	n/a	n/a
36	CTCF	chr19:28457300-28457450	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr19:28457340-28457490	GM12873	blood:	n/a	n/a
38	CTCF	chr19:28391340-28391490	HEK293	kidney:	n/a	n/a
39	CTCF	chr19:28431280-28431430	RPTEC	kidney:	n/a	n/a
40	CTCF	chr19:28457278-28457525	A549	lung:	n/a	n/a
41	CTCF	chr19:28457340-28457490	GM12865	blood:	n/a	n/a
42	CTCF	chr19:28457340-28457490	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr19:28457380-28457530	GM12866	blood:	n/a	n/a
44	CTCF	chr19:28457280-28457430	BE2_C	brain:	n/a	n/a
45	CTCF	chr19:28457340-28457490	GM06990	blood:	n/a	n/a
46	CTCF	chr19:28457280-28457430	GM12864	blood:	n/a	n/a
47	CTCF	chr19:28371660-28371810	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr19:28457055-28457852	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr19:28457360-28457510	AG10803	skin:	n/a	n/a
50	CTCF	chr19:28457345-28457548	LNCaP	prostate:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:28397061-28397111	SK-N-SH	brain:	n/a
2	chr19:28399736-28399786	AG10803	skin:	n/a
3	chr19:28397061-28397111	NH-A	brain:	n/a
4	chr19:28399736-28399786	HepG2	liver:	n/a
5	chr19:28400822-28400872	HCPEpiC	choroid plexus:	n/a
6	chr19:28401100-28401150	HRCEpiC	kidney:	n/a
7	chr19:28403514-28403564	NH-A	brain:	n/a
8	chr19:28400822-28400872	BE2_C	brain:	n/a
9	chr19:28397061-28397111	HEK293	kidney:	embryo
10	chr19:28400281-28400331	MCF10A-Er-Src	breast:	n/a
11	chr19:28403514-28403564	HCM	heart:	n/a
12	chr19:28397061-28397111	K562	blood:	n/a
13	chr19:28401100-28401150	AG04450	lung:	fetal
14	chr19:28403514-28403564	NB4	blood:	n/a
15	chr19:28403514-28403564	NHDF-neo	bronchial:	n/a
16	chr19:28397061-28397111	AG09309	skin:	n/a
17	chr19:28403514-28403564	ovcar-3	ovarian:	n/a
18	chr19:28397061-28397111	HCF	heart:	n/a
19	chr19:28397061-28397111	GM19239	blood:	n/a
20	chr19:28400281-28400331	HNPCEpiC	eye:	n/a
21	chr19:28399736-28399786	NHDF-neo	bronchial:	n/a
22	chr19:28400822-28400872	HMEC	breast:	n/a
23	chr19:28400822-28400872	SK-N-SH_RA	brain:	n/a
24	chr19:28397061-28397111	NHDF-neo	bronchial:	n/a
25	chr19:28400822-28400872	Jurkat	blood:	n/a
26	chr19:28400822-28400872	PrEC	prostate:	n/a
27	chr19:28401100-28401150	HEK293	kidney:	embryo
28	chr19:28399736-28399786	AG04450	lung:	fetal
29	chr19:28397061-28397111	BJ	skin:	n/a
30	chr19:28400281-28400331	GM06990	blood:	n/a
31	chr19:28401100-28401150	GM06990	blood:	n/a
32	chr19:28401100-28401150	NHDF-neo	bronchial:	n/a
33	chr19:28400822-28400872	LNCaP	prostate:	n/a
34	chr19:28400281-28400331	GM12878	blood:	n/a
35	chr19:28403514-28403564	HMEC	breast:	n/a
36	chr19:28400281-28400331	GM12891	blood:	n/a
37	chr19:28403514-28403564	SK-N-SH_RA	brain:	n/a
38	chr19:28397061-28397111	CMK	blood:	n/a
39	chr19:28397061-28397111	HUVEC	blood vessel:	n/a
40	chr19:28397061-28397111	Caco-2	colon:	n/a
41	chr19:28400822-28400872	CMK	blood:	n/a
42	chr19:28400281-28400331	AG10803	skin:	n/a
43	chr19:28400281-28400331	NB4	blood:	n/a
44	chr19:28399736-28399786	NH-A	brain:	n/a
45	chr19:28403514-28403564	GM06990	blood:	n/a
46	chr19:28403514-28403564	BE2_C	brain:	n/a
47	chr19:28400281-28400331	ProgFib	skin:	n/a
48	chr19:28400281-28400331	Jurkat	blood:	n/a
49	chr19:28403514-28403564	SK-N-SH	brain:	n/a
50	chr19:28401100-28401150	HCT-116	colon:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:28456998..28457870-chr2:21351809..21352309,2	MCF-7	breast:
2	chr19:28395608..28398274-chr19:28399828..28402146,2	K562	blood:
3	chr19:28398796..28401321-chr19:28401925..28404487,2	K562	blood:
4	chr19:28395608..28398274-chr19:28399828..28402146,2	K562	blood:
5	chr19:28360092..28362208-chr19:28365123..28367340,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM2B-9	chr19:28393503-28393602	NONHSAT064022
2	lnc-UQCRFS1-6	chr19:28380013-28380105	XLOC_013284
3	lnc-UQCRFS1-6	chr19:28380013-28380130	ENSG00000266977.1
4	lnc-VSTM2B-9	chr19:28447110-28447494	NONHSAT064022

No data

Variant related genes	Relation type
ENSG00000267623	TF binding region
ENSG00000267768	TF binding region
ENSG00000267630	TF binding region
ENSG00000266977	TF binding region
ENSG00000267389	TF binding region
ENSG00000267623	CpG island
ENSG00000267768	CpG island
ENSG00000267630	CpG island
ENSG00000266977	CpG island
ENSG00000267389	CpG island
ENSG00000267768	chromatin interactions

Extended variants
information (count: 1908 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1908 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529157864	chr19:28367615-28367616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181704204	chr19:28367656-28367657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542357020	chr19:28367659-28367660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565559715	chr19:28367685-28367686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185238631	chr19:28367690-28367691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11667843	chr19:28367691-28367692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs10415377	chr19:28367695-28367696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190341214	chr19:28367699-28367700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538333892	chr19:28367703-28367704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556286703	chr19:28367708-28367709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181256536	chr19:28367710-28367711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57339465	chr19:28367761-28367762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554479300	chr19:28367772-28367773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370308721	chr19:28367800-28367801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145020204	chr19:28367924-28367925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546117741	chr19:28367930-28367931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114805580	chr19:28367942-28367943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368135923	chr19:28367974-28367975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576106043	chr19:28368004-28368005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534299553	chr19:28368006-28368007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375168655	chr19:28368034-28368035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561359628	chr19:28368120-28368121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149075925	chr19:28368130-28368131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370942828	chr19:28368132-28368133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546965991	chr19:28368209-28368210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559255336	chr19:28368214-28368215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533245790	chr19:28368249-28368250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185621498	chr19:28368292-28368293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386808314	chr19:28368294-28368295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537963008	chr19:28368295-28368296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550215537	chr19:28368296-28368297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4804968	chr19:28368297-28368298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535880727	chr19:28368355-28368356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554195248	chr19:28368399-28368400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566419765	chr19:28368405-28368406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4804969	chr19:28368446-28368447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372859218	chr19:28368498-28368499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189545501	chr19:28368505-28368506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543172130	chr19:28368520-28368521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142231744	chr19:28368521-28368522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146741790	chr19:28368560-28368561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540665851	chr19:28368567-28368568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558919929	chr19:28368577-28368578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180852065	chr19:28368582-28368583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186142881	chr19:28368592-28368593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113477612	chr19:28368599-28368600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530703810	chr19:28368604-28368605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547133683	chr19:28368638-28368639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58760967	chr19:28368647-28368648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367652513	chr19:28368657-28368658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28367600-28368600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr19:28368000-28373800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:28374600-28376200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:28375600-28377000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr19:28376200-28376400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:28376400-28376800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr19:28377600-28378000	Enhancers	HSMMtube	muscle
8	chr19:28378600-28378800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:28378600-28379400	Active TSS	Fetal Heart	heart
10	chr19:28378800-28379200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:28379400-28379800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:28379400-28381000	Weak transcription	Fetal Heart	heart
13	chr19:28380200-28389200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:28381000-28381400	Active TSS	Fetal Heart	heart
15	chr19:28384800-28385600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:28385200-28385400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:28385600-28386600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:28387200-28387400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:28387400-28387600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:28395000-28397800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr19:28395200-28398400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:28395600-28397600	Enhancers	Brain Hippocampus Middle	brain
23	chr19:28395800-28397000	Enhancers	Brain Angular Gyrus	brain
24	chr19:28395800-28398200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:28395800-28398400	Enhancers	Brain Anterior Caudate	brain
26	chr19:28396000-28397000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:28396000-28397600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr19:28396000-28397800	Enhancers	Brain Substantia Nigra	brain
29	chr19:28396400-28397600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:28396400-28397800	Enhancers	Brain Cingulate Gyrus	brain
31	chr19:28396600-28397400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:28397000-28398000	Weak transcription	Brain Angular Gyrus	brain
33	chr19:28398000-28398200	Enhancers	Brain Angular Gyrus	brain
34	chr19:28398400-28400400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:28400400-28401000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:28402000-28402600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:28409000-28409200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:28409600-28411000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:28411000-28411800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:28411800-28412800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:28413000-28413200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:28444400-28445000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:28445000-28448400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:28446400-28446800	Enhancers	Fetal Brain Male	brain
45	chr19:28446400-28446800	Enhancers	Ovary	ovary
46	chr19:28446400-28447200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:28446800-28448200	Weak transcription	Ovary	ovary
48	chr19:28448200-28448400	Enhancers	Ovary	ovary
49	chr19:28448400-28448800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:28448800-28450000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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