Variant report

Variant	nsv1066170
Chromosome Location	chr19:21114796-21142630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:21129511-21129516	HepG2	liver:	n/a	n/a
2	CTCF	chr19:21140523-21140583	GM20000	blood:	n/a	n/a
3	CTCF	chr19:21124105-21124181	GM10266	blood:	n/a	n/a
4	FOS	chr19:21137881-21138040	HUVEC	blood vessel:	n/a	chr19:21137974-21137981
5	FOXA2	chr19:21134884-21135284	A549	lung:	n/a	n/a
6	GTF2F1	chr19:21133225-21133410	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr19:21133112-21133264	HEK293	kidney:	n/a	n/a
8	MYC	chr19:21136187-21136249	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr19:21124240-21124380	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr19:21139171-21139476	MCF10A-Er-Src	breast:	n/a	n/a
11	NR2F2	chr19:21134907-21135248	K562	blood:	n/a	n/a
12	NR2F2	chr19:21134837-21135226	K562	blood:	n/a	n/a
13	PAX5	chr19:21135965-21136238	GM12878	blood:	n/a	n/a
14	PAX5	chr19:21135979-21136156	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:21124151-21124169	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:21137661-21137753	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:21135647-21135658	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:21119057-21119658	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:21115774-21115882	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:21137093-21137116	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr19:21127842-21127939	K562	blood:	n/a	n/a
22	POLR2A	chr19:21130424-21130617	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr19:21135629-21135640	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:21121258-21121303	K562	blood:	n/a	n/a
25	POLR2A	chr19:21135571-21135731	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:21127404-21127603	K562	blood:	n/a	n/a
27	POLR2A	chr19:21136642-21136643	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr19:21131702-21131819	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr19:21133223-21133454	MCF10A-Er-Src	breast:	n/a	n/a
30	SETDB1	chr19:21131925-21134396	U2OS	brain:	n/a	n/a
31	STAT3	chr19:21126991-21127201	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr19:21125389-21125662	MCF10A-Er-Src	breast:	n/a	n/a
33	ZNF274	chr19:21131944-21132138	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF274	chr19:21132725-21133396	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF274	chr19:21133987-21134194	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF274	chr19:21133673-21134056	GM08714	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21124387..21126595-chr19:21129898..21132890,2	MCF-7	breast:
2	chr19:21124387..21126595-chr19:21129898..21132890,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF85-4	chr19:21117755-21117853	NR_045830
2	lnc-ZNF85-4	chr19:21116830-21116956	NR_045830
3	lnc-ZNF85-4	chr19:21125607-21126783	NR_045830

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF85	hsa-miR-26b-5p	chr19:21126672-21126693

Variant related genes	Relation type
ZNF85	TF binding region
KRT18P40	TF binding region

Extended variants
information (count: 1041 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73005122	chr19:21114806-21114807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113199406	chr19:21114884-21114885	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548579431	chr19:21114991-21114992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558279409	chr19:21114996-21114997	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2161459	chr19:21115015-21115016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs112609861	chr19:21115056-21115057	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540864820	chr19:21115128-21115129	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11085405	chr19:21115129-21115130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs189478897	chr19:21115145-21115146	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373548615	chr19:21115163-21115164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553366020	chr19:21115167-21115168	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148403398	chr19:21115187-21115188	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34346930	chr19:21115192-21115193	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34694990	chr19:21115193-21115194	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11085406	chr19:21115243-21115244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs11085407	chr19:21115247-21115248	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs575403830	chr19:21115282-21115283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530234420	chr19:21115300-21115301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192700215	chr19:21115330-21115331	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368051808	chr19:21115332-21115333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532906183	chr19:21115337-21115338	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2059139	chr19:21115359-21115360	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs113748096	chr19:21115363-21115364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551796067	chr19:21115395-21115396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528855836	chr19:21115399-21115400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111240021	chr19:21115412-21115413	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150696899	chr19:21115423-21115424	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546456338	chr19:21115491-21115492	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369105817	chr19:21115492-21115493	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112141004	chr19:21115545-21115546	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368218492	chr19:21115570-21115571	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144873532	chr19:21115575-21115576	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539967513	chr19:21115576-21115577	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2081049	chr19:21115602-21115603	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs147900980	chr19:21115624-21115625	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369810133	chr19:21115637-21115638	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111456546	chr19:21115639-21115640	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373652038	chr19:21115640-21115641	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374852921	chr19:21115642-21115643	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60749666	chr19:21115643-21115644	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200045278	chr19:21115657-21115658	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11667715	chr19:21115666-21115667	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs555640217	chr19:21115722-21115723	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35748394	chr19:21115725-21115726	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537741283	chr19:21115818-21115819	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9917054	chr19:21115819-21115820	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370520412	chr19:21115835-21115836	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs78764187	chr19:21115849-21115850	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs62124025	chr19:21115851-21115852	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200854875	chr19:21115880-21115881	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21106600-21117800	Weak transcription	Small Intestine	intestine
2	chr19:21106600-21119200	Weak transcription	Spleen	Spleen
3	chr19:21106600-21129800	Weak transcription	Stomach Mucosa	stomach
4	chr19:21106800-21119200	Weak transcription	Aorta	Aorta
5	chr19:21106800-21125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:21106800-21128200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:21106800-21131000	Weak transcription	Gastric	stomach
8	chr19:21107000-21115600	Weak transcription	Pancreas	Pancrea
9	chr19:21107000-21116600	Weak transcription	Fetal Intestine Large	intestine
10	chr19:21107000-21117800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:21107000-21117800	Weak transcription	Placenta	Placenta
12	chr19:21107000-21118000	Weak transcription	Left Ventricle	heart
13	chr19:21107000-21119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:21107000-21120400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:21107000-21123000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:21107000-21124000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:21107000-21125800	Weak transcription	Psoas Muscle	Psoas
18	chr19:21107000-21128000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr19:21107000-21133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:21107200-21117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:21107200-21119000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:21107200-21119200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:21107200-21123000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:21107200-21124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:21107200-21125400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:21107200-21127200	Weak transcription	Brain Angular Gyrus	brain
27	chr19:21107200-21127400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:21107200-21132600	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:21107200-21133800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:21107400-21117800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:21107400-21117800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:21107400-21117800	Weak transcription	NHEK	skin
33	chr19:21107400-21118000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:21107400-21118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:21107400-21118000	Weak transcription	Adipose Nuclei	Adipose
36	chr19:21107400-21118400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:21107400-21125600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:21107400-21125600	Weak transcription	HUVEC	blood vessel
39	chr19:21107400-21128000	Weak transcription	NHDF-Ad	bronchial
40	chr19:21107400-21131600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:21107600-21114800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:21107600-21117000	Weak transcription	Fetal Lung	lung
43	chr19:21107600-21117800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:21107600-21127000	Weak transcription	Fetal Kidney	kidney
45	chr19:21107600-21133400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:21107800-21120600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:21108000-21117600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:21108200-21117800	Weak transcription	Fetal Thymus	thymus
49	chr19:21109000-21114800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:21109400-21115200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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