Variant report

Variant	nsv1055513
Chromosome Location	chr19:27780944-28178642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1312)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1312 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:27907624-27907648	K562	blood:	n/a	n/a
2	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
3	BACH1	chr19:27888281-27888308	K562	blood:	n/a	n/a
4	BACH1	chr19:28105728-28106101	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:27781704-27781731	K562	blood:	n/a	n/a
6	BATF	chr19:27865050-27865350	GM12878	blood:	n/a	n/a
7	BATF	chr19:27783974-27784132	GM12878	blood:	n/a	n/a
8	BATF	chr19:27804588-27804797	GM12878	blood:	n/a	n/a
9	BATF	chr19:27897158-27897472	GM12878	blood:	n/a	n/a
10	BATF	chr19:27899139-27899310	GM12878	blood:	n/a	n/a
11	BATF	chr19:27868294-27868587	GM12878	blood:	n/a	n/a
12	BATF	chr19:27806827-27807070	GM12878	blood:	n/a	n/a
13	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
14	BATF	chr19:27789809-27790085	GM12878	blood:	n/a	n/a
15	BATF	chr19:27793546-27793806	GM12878	blood:	n/a	n/a
16	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
17	BATF	chr19:27784638-27785020	GM12878	blood:	n/a	n/a
18	BATF	chr19:27793473-27794218	GM12878	blood:	n/a	n/a
19	BATF	chr19:27860263-27860475	GM12878	blood:	n/a	n/a
20	BATF	chr19:27880551-27880779	GM12878	blood:	n/a	n/a
21	BATF	chr19:27821568-27821883	GM12878	blood:	n/a	n/a
22	BATF	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
23	BATF	chr19:27897153-27897445	GM12878	blood:	n/a	n/a
24	BATF	chr19:27802596-27802885	GM12878	blood:	n/a	n/a
25	BATF	chr19:27789516-27789763	GM12878	blood:	n/a	n/a
26	BATF	chr19:27814882-27815052	GM12878	blood:	n/a	n/a
27	BATF	chr19:27899029-27899326	GM12878	blood:	n/a	n/a
28	BATF	chr19:27789536-27789809	GM12878	blood:	n/a	n/a
29	BCL11A	chr19:27899071-27899250	GM12878	blood:	n/a	n/a
30	BCL11A	chr19:27793740-27793964	GM12878	blood:	n/a	n/a
31	BCL11A	chr19:27789538-27789982	GM12878	blood:	n/a	n/a
32	BCL11A	chr19:27902643-27903061	GM12878	blood:	n/a	n/a
33	BCL11A	chr19:27793562-27793729	GM12878	blood:	n/a	n/a
34	BCL11A	chr19:27806754-27807054	GM12878	blood:	n/a	n/a
35	BCL11A	chr19:27802586-27802917	GM12878	blood:	n/a	n/a
36	BCL11A	chr19:27897065-27897511	GM12878	blood:	n/a	n/a
37	BCL11A	chr19:27858205-27858422	GM12878	blood:	n/a	n/a
38	BCL11A	chr19:27797694-27797891	GM12878	blood:	n/a	n/a
39	BCL11A	chr19:27868266-27868675	GM12878	blood:	n/a	n/a
40	BCL11A	chr19:27897169-27897439	GM12878	blood:	n/a	n/a
41	BCL11A	chr19:27789441-27790105	GM12878	blood:	n/a	n/a
42	BCL11A	chr19:27784614-27784859	GM12878	blood:	n/a	n/a
43	BCL11A	chr19:27793574-27793997	GM12878	blood:	n/a	n/a
44	BCL11A	chr19:27902664-27902911	GM12878	blood:	n/a	n/a
45	BCL11A	chr19:27868323-27868579	GM12878	blood:	n/a	n/a
46	BHLHE40	chr19:27821601-27821834	HepG2	liver:	n/a	n/a
47	BHLHE40	chr19:27835498-27835732	HepG2	liver:	n/a	n/a
48	BHLHE40	chr19:27895230-27895399	HepG2	liver:	n/a	n/a
49	BHLHE40	chr19:27902737-27903075	HepG2	liver:	n/a	n/a
50	BHLHE40	chr19:28045061-28045262	K562	blood:	n/a	n/a

No data

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-9	chr19:28175488-28175515	ENSG00000261824.2

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 26872 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:26872 , 50 per page) page: 1 2 3 4 5 6 7 ... 538

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566041061	chr19:27780949-27780950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113877974	chr19:27780953-27780954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373940987	chr19:27780959-27780960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113785340	chr19:27780965-27780966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575974777	chr19:27780966-27780967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138487288	chr19:27780967-27780968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551053905	chr19:27780982-27780983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555184778	chr19:27781036-27781037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566828641	chr19:27781039-27781040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541237352	chr19:27781063-27781064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79054879	chr19:27781105-27781106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77816520	chr19:27781113-27781114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559627982	chr19:27781182-27781183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577910636	chr19:27781195-27781196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200081258	chr19:27781207-27781208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563560811	chr19:27781248-27781249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376930447	chr19:27781249-27781250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531626194	chr19:27781265-27781266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564688482	chr19:27781298-27781299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550123645	chr19:27781299-27781300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200322994	chr19:27781300-27781301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533916819	chr19:27781315-27781316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562042772	chr19:27781321-27781322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529345705	chr19:27781367-27781368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77271286	chr19:27781370-27781371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547474727	chr19:27781389-27781390	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111741487	chr19:27781390-27781391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112701759	chr19:27781393-27781394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565977516	chr19:27781411-27781412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371341254	chr19:27781425-27781426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202186063	chr19:27781432-27781433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533327123	chr19:27781440-27781441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184448245	chr19:27781476-27781477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570295414	chr19:27781481-27781482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536668697	chr19:27781498-27781499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555303634	chr19:27781499-27781500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111407975	chr19:27781517-27781518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191194034	chr19:27781529-27781530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs8187178	chr19:27781539-27781540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541119453	chr19:27781546-27781547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111898922	chr19:27781595-27781596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137896270	chr19:27781605-27781606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534759170	chr19:27781633-27781634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553083421	chr19:27781642-27781643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533344455	chr19:27781643-27781644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10412004	chr19:27781650-27781651	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188463885	chr19:27781659-27781660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202101268	chr19:27781696-27781697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79109250	chr19:27781704-27781705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575446593	chr19:27781716-27781717	ZNF genes & repeats 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:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27768600-27782600	Weak transcription	K562	blood
2	chr19:27777400-27782600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr19:27777400-27785200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:27777800-27784600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:27778400-27784400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr19:27781600-27781800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr19:27788400-27788800	Weak transcription	HUVEC	blood vessel
8	chr19:27788400-27795200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:27788600-27806600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:27788800-27789200	Active TSS	NHLF	lung
11	chr19:27788800-27789600	ZNF genes & repeats	HUVEC	blood vessel
12	chr19:27788800-27790600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:27788800-27808600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr19:27789000-27795400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr19:27789600-27789800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr19:27789600-27789800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:27789600-27790000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:27789600-27791600	Weak transcription	HUVEC	blood vessel
19	chr19:27789600-27794200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr19:27790000-27791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:27791600-27791800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:27791600-27791800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:27791600-27791800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:27791600-27791800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:27791600-27791800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:27791600-27791800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
29	chr19:27791600-27791800	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr19:27791600-27791800	ZNF genes & repeats	Liver	Liver
31	chr19:27791600-27791800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr19:27791600-27791800	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr19:27791600-27791800	ZNF genes & repeats	Fetal Brain Male	brain
34	chr19:27791600-27791800	ZNF genes & repeats	Fetal Heart	heart
35	chr19:27791600-27791800	ZNF genes & repeats	Fetal Kidney	kidney
36	chr19:27791600-27791800	ZNF genes & repeats	Fetal Lung	lung
37	chr19:27791600-27791800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr19:27791600-27791800	ZNF genes & repeats	Stomach Mucosa	stomach
39	chr19:27791600-27791800	ZNF genes & repeats	GM12878-XiMat	blood
40	chr19:27791600-27791800	ZNF genes & repeats	HUVEC	blood vessel
41	chr19:27791800-27793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:27791800-27793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:27791800-27793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:27792800-27806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:27793400-27793800	ZNF genes & repeats	Fetal Brain Male	brain
46	chr19:27793400-27794600	ZNF genes & repeats	HUVEC	blood vessel
47	chr19:27793600-27793800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:27793600-27794000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:27793600-27794000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:27793600-27794000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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