Variant report

Variant	nsv1060972
Chromosome Location	chr19:27747981-28195015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2126)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2126 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:27757251-27757283	K562	blood:	n/a	n/a
2	BACH1	chr19:27888281-27888308	K562	blood:	n/a	n/a
3	BACH1	chr19:28105728-28106101	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:27781704-27781731	K562	blood:	n/a	n/a
5	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
6	BACH1	chr19:27749590-27749620	K562	blood:	n/a	n/a
7	BACH1	chr19:27907624-27907648	K562	blood:	n/a	n/a
8	BATF	chr19:27751271-27751493	GM12878	blood:	n/a	n/a
9	BATF	chr19:27768950-27769375	GM12878	blood:	n/a	n/a
10	BATF	chr19:27806827-27807070	GM12878	blood:	n/a	n/a
11	BATF	chr19:27762255-27762490	GM12878	blood:	n/a	n/a
12	BATF	chr19:27755945-27756634	GM12878	blood:	n/a	n/a
13	BATF	chr19:27760310-27760683	GM12878	blood:	n/a	n/a
14	BATF	chr19:27814882-27815052	GM12878	blood:	n/a	n/a
15	BATF	chr19:27768952-27769278	GM12878	blood:	n/a	n/a
16	BATF	chr19:27897153-27897445	GM12878	blood:	n/a	n/a
17	BATF	chr19:27783974-27784132	GM12878	blood:	n/a	n/a
18	BATF	chr19:27753788-27754164	GM12878	blood:	n/a	n/a
19	BATF	chr19:27789516-27789763	GM12878	blood:	n/a	n/a
20	BATF	chr19:27897158-27897472	GM12878	blood:	n/a	n/a
21	BATF	chr19:27865050-27865350	GM12878	blood:	n/a	n/a
22	BATF	chr19:27770818-27771205	GM12878	blood:	n/a	n/a
23	BATF	chr19:27804588-27804797	GM12878	blood:	n/a	n/a
24	BATF	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
25	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
26	BATF	chr19:27778795-27779115	GM12878	blood:	n/a	n/a
27	BATF	chr19:27764310-27764817	GM12878	blood:	n/a	n/a
28	BATF	chr19:27899139-27899310	GM12878	blood:	n/a	n/a
29	BATF	chr19:27802596-27802885	GM12878	blood:	n/a	n/a
30	BATF	chr19:27880551-27880779	GM12878	blood:	n/a	n/a
31	BATF	chr19:27757082-27757423	GM12878	blood:	n/a	n/a
32	BATF	chr19:27821568-27821883	GM12878	blood:	n/a	n/a
33	BATF	chr19:27765636-27765947	GM12878	blood:	n/a	n/a
34	BATF	chr19:27752767-27753110	GM12878	blood:	n/a	n/a
35	BATF	chr19:27784638-27785020	GM12878	blood:	n/a	n/a
36	BATF	chr19:27789809-27790085	GM12878	blood:	n/a	n/a
37	BATF	chr19:27789536-27789809	GM12878	blood:	n/a	n/a
38	BATF	chr19:27860263-27860475	GM12878	blood:	n/a	n/a
39	BATF	chr19:27755868-27756233	GM12878	blood:	n/a	n/a
40	BATF	chr19:27752756-27753059	GM12878	blood:	n/a	n/a
41	BATF	chr19:27793546-27793806	GM12878	blood:	n/a	n/a
42	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
43	BATF	chr19:27793473-27794218	GM12878	blood:	n/a	n/a
44	BATF	chr19:27899029-27899326	GM12878	blood:	n/a	n/a
45	BATF	chr19:27868294-27868587	GM12878	blood:	n/a	n/a
46	BATF	chr19:27764425-27764736	GM12878	blood:	n/a	n/a
47	BATF	chr19:27760299-27760683	GM12878	blood:	n/a	n/a
48	BATF	chr19:27759817-27760069	GM12878	blood:	n/a	n/a
49	BATF	chr19:27770260-27770537	GM12878	blood:	n/a	n/a
50	BCL11A	chr19:27753256-27753556	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
2	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
3	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
4	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-9	chr19:28192225-28192553	NONHSAT063963
2	lnc-UQCRFS1-9	chr19:28175488-28175515	ENSG00000261824.2
3	lnc-UQCRFS1-9	chr19:28192399-28192553	ENSG00000261824.2

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 31274 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:31274 , 50 per page) page: 1 2 3 4 5 6 7 ... 626

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201748655	chr19:27747981-27747982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115898533	chr19:27747997-27747998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560456237	chr19:27747998-27747999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528508144	chr19:27748025-27748026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142698604	chr19:27748026-27748027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368202396	chr19:27748037-27748038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562959779	chr19:27748038-27748039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55906427	chr19:27748039-27748040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs532538855	chr19:27748040-27748041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551040141	chr19:27748048-27748049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569379928	chr19:27748059-27748060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188226637	chr19:27748074-27748075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554858445	chr19:27748095-27748096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561976921	chr19:27748104-27748105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151245050	chr19:27748127-27748128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533546236	chr19:27748129-27748130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545055109	chr19:27748141-27748142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529179934	chr19:27748149-27748150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57428747	chr19:27748185-27748186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367734115	chr19:27748195-27748196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571772753	chr19:27748201-27748202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544229626	chr19:27748208-27748209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576762471	chr19:27748223-27748224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12972499	chr19:27748236-27748237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556199956	chr19:27748248-27748249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562624188	chr19:27748261-27748262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140470315	chr19:27748329-27748330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542007583	chr19:27748351-27748352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560466890	chr19:27748359-27748360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533168769	chr19:27748368-27748369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147056229	chr19:27748373-27748374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546111359	chr19:27748377-27748378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565171023	chr19:27748382-27748383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374730288	chr19:27748419-27748420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201125631	chr19:27748460-27748461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201956311	chr19:27748461-27748462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548056846	chr19:27748467-27748468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567938682	chr19:27748472-27748473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532516928	chr19:27748487-27748488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73016552	chr19:27748492-27748493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186275994	chr19:27748507-27748508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191065025	chr19:27748516-27748517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565425743	chr19:27748531-27748532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183615818	chr19:27748545-27748546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201207574	chr19:27748550-27748551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556569353	chr19:27748554-27748555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552435587	chr19:27748565-27748566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186904375	chr19:27748580-27748581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367546429	chr19:27748581-27748582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537817362	chr19:27748596-27748597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:850 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27740800-27755200	Weak transcription	K562	blood
2	chr19:27745800-27749600	Weak transcription	HUVEC	blood vessel
3	chr19:27747200-27749600	Weak transcription	NH-A	brain
4	chr19:27749000-27749600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:27749400-27750800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:27749600-27749800	ZNF genes & repeats	HUVEC	blood vessel
10	chr19:27749600-27749800	ZNF genes & repeats	NH-A	brain
11	chr19:27749600-27750000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:27749600-27750400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr19:27749600-27750400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
14	chr19:27749600-27750400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:27749800-27750400	Active TSS	Aorta	Aorta
17	chr19:27749800-27750400	ZNF genes & repeats	Liver	Liver
18	chr19:27749800-27750600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
19	chr19:27749800-27756600	Weak transcription	NH-A	brain
20	chr19:27750000-27750600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:27750000-27750600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:27750000-27750600	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr19:27750000-27752200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:27750200-27750400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr19:27750200-27750600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:27750200-27750600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:27750200-27750600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:27750200-27750600	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr19:27750200-27750600	ZNF genes & repeats	Small Intestine	intestine
30	chr19:27750400-27750600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr19:27750600-27752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr19:27750600-27752800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:27750600-27753400	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:27750800-27752400	Weak transcription	Liver	Liver
35	chr19:27750800-27752600	Weak transcription	Psoas Muscle	Psoas
36	chr19:27752200-27753000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:27752600-27753200	ZNF genes & repeats	Liver	Liver
38	chr19:27752800-27753400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
39	chr19:27752800-27753600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:27752800-27757000	ZNF genes & repeats	HUVEC	blood vessel
41	chr19:27753000-27753200	ZNF genes & repeats	Fetal Heart	heart
42	chr19:27753200-27753400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr19:27753400-27754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:27753600-27754400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:27754400-27754800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:27754800-27755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:27755200-27755400	ZNF genes & repeats	K562	blood
48	chr19:27755400-27757000	Weak transcription	K562	blood
49	chr19:27755600-27758000	ZNF genes & repeats	HepG2	liver
50	chr19:27755800-27756200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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