Variant report

Variant	esv1833990
Chromosome Location	chr19:21753703-21755663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
2	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
3	JUND	chr19:21755289-21755574	HepG2	liver:	n/a	n/a
4	MAFK	chr19:21753996-21754009	K562	blood:	n/a	n/a
5	NFYB	chr19:21754902-21755156	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726
2	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
3	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
4	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10420580	chr19:21753703-21753704	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs11880052	chr19:21753753-21753754	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191671833	chr19:21753765-21753766	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs11880057	chr19:21753811-21753812	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539679258	chr19:21753814-21753815	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs113948688	chr19:21753844-21753845	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs111658870	chr19:21753847-21753848	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552585186	chr19:21753848-21753849	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs35577645	chr19:21753849-21753850	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs386807807	chr19:21753865-21753866	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs147030895	chr19:21753866-21753867	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs563244482	chr19:21753872-21753873	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs35789828	chr19:21753883-21753884	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs575358795	chr19:21753962-21753963	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs552628420	chr19:21753965-21753966	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs112462702	chr19:21753973-21753974	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs113283235	chr19:21753996-21753997	Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs141314420	chr19:21754013-21754014	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs369396041	chr19:21754014-21754015	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs150774230	chr19:21754023-21754024	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs375957988	chr19:21754038-21754039	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs551047877	chr19:21754090-21754091	Weak transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs111803442	chr19:21754127-21754128	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs564371175	chr19:21754128-21754129	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576300117	chr19:21754132-21754133	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573208034	chr19:21754146-21754147	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs536843058	chr19:21754158-21754159	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs139858348	chr19:21754187-21754188	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs143188767	chr19:21754192-21754193	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs534189335	chr19:21754198-21754199	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs112678245	chr19:21754217-21754218	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs113180581	chr19:21754240-21754241	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs113552950	chr19:21754248-21754249	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs557010612	chr19:21754267-21754268	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs575295925	chr19:21754273-21754274	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542787405	chr19:21754281-21754282	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs554500116	chr19:21754283-21754284	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs573086617	chr19:21754291-21754292	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs540503182	chr19:21754293-21754294	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs565181187	chr19:21754314-21754315	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs116041680	chr19:21754316-21754317	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs141621198	chr19:21754324-21754325	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs562995447	chr19:21754339-21754340	Weak transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs150406989	chr19:21754366-21754367	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138120359	chr19:21754397-21754398	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566697604	chr19:21754399-21754400	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112553623	chr19:21754421-21754422	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113305750	chr19:21754430-21754431	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570852257	chr19:21754455-21754456	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112053106	chr19:21754481-21754482	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752600-21756600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:21752800-21754000	Weak transcription	Brain Germinal Matrix	brain
4	chr19:21752800-21754400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:21752800-21754600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:21752800-21755400	Weak transcription	Right Ventricle	heart
7	chr19:21752800-21755800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
9	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
10	chr19:21753200-21754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:21753400-21754600	Genic enhancers	Dnd41	blood
13	chr19:21753600-21756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:21754000-21754400	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr19:21754600-21757800	Strong transcription	Dnd41	blood

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