Variant report

Variant	esv3319137
Chromosome Location	chr19:39411205-39411874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:39411538-39411870	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:39411434-39411736	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:39411502-39411892	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:39411331-39412950	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:39411283-39411898	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:39411279-39412214	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:39410749-39413573	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:39411580-39411837	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:39411429-39412584	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:39411431-39411889	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:39411526-39411772	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:39411587-39412636	K562	blood:	n/a	n/a
13	POLR2A	chr19:39411618-39412387	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:39411089-39411253	K562	blood:	n/a	n/a
15	POLR2A	chr19:39411378-39411753	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:39411024-39412667	GM12892	blood:	n/a	n/a
17	POLR2A	chr19:39411688-39411829	K562	blood:	n/a	n/a
18	POLR2A	chr19:39411668-39411849	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:39411650-39412599	K562	blood:	n/a	n/a
20	POLR2A	chr19:39410690-39412060	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:39411501-39411872	A549	lung:	n/a	n/a
22	POLR2A	chr19:39411383-39411857	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:39411195-39412000	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr19:39411533-39411866	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:39411606-39411901	K562	blood:	n/a	n/a
26	POLR2A	chr19:39411491-39411915	GM12891	blood:	n/a	n/a
27	STAT5A	chr19:39411022-39411846	K562	blood:	n/a	n/a
28	SUZ12	chr19:39411294-39411777	H1-hESC	embryonic stem cell:	n/a	n/a
29	TBL1XR1	chr19:39411327-39411343	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39390485..39392144-chr19:39409724..39411734,2	MCF-7	breast:
2	chr19:39339873..39342860-chr19:39409643..39412054,2	MCF-7	breast:
3	chr19:39337019..39338579-chr19:39410355..39412359,2	MCF-7	breast:
4	chr19:39411214..39414705-chr19:39419221..39421908,4	MCF-7	breast:
5	chr19:39388836..39392687-chr19:39409083..39412619,5	K562	blood:

No data

Variant related genes	Relation type
SARS2	TF binding region
ENSG00000068903	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000104825	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000104824	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542422201	chr19:39411217-39411218	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs367666089	chr19:39411223-39411224	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs200465279	chr19:39411264-39411265	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs560964659	chr19:39411277-39411278	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs185522715	chr19:39411284-39411285	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs543180006	chr19:39411302-39411303	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs564975157	chr19:39411303-39411304	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs375640839	chr19:39411310-39411311	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs140201534	chr19:39411322-39411323	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs547390450	chr19:39411324-39411325	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs11668245	chr19:39411327-39411328	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs530378546	chr19:39411340-39411341	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs200640332	chr19:39411352-39411353	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs548892514	chr19:39411354-39411355	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs111212156	chr19:39411362-39411363	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs570201865	chr19:39411366-39411367	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs386809128	chr19:39411370-39411371	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs543487055	chr19:39411374-39411375	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs561779837	chr19:39411378-39411379	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs537630886	chr19:39411400-39411401	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs558819143	chr19:39411450-39411451	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs529238164	chr19:39411455-39411456	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs111067340	chr19:39411462-39411463	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs534699306	chr19:39411476-39411477	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs12975517	chr19:39411481-39411482	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs201382407	chr19:39411485-39411486	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs560436725	chr19:39411498-39411499	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs559797705	chr19:39411512-39411513	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs556069302	chr19:39411525-39411526	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs542559346	chr19:39411534-39411535	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs376790270	chr19:39411538-39411539	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs201540467	chr19:39411575-39411576	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs28736288	chr19:39411576-39411577	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs28503434	chr19:39411578-39411579	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs142895480	chr19:39411579-39411580	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs201362509	chr19:39411588-39411589	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs199500665	chr19:39411589-39411590	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs111212157	chr19:39411590-39411591	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs111212158	chr19:39411592-39411593	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs376039245	chr19:39411593-39411594	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs58137960	chr19:39411594-39411595	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs375354348	chr19:39411596-39411597	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs200956813	chr19:39411598-39411599	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs199543383	chr19:39411600-39411601	Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs572747566	chr19:39411601-39411602	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs200864647	chr19:39411602-39411603	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs60286950	chr19:39411606-39411607	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs200119729	chr19:39411610-39411611	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs559433932	chr19:39411616-39411617	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs576245873	chr19:39411623-39411624	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
2	chr19:39391600-39414800	Weak transcription	HMEC	breast
3	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
4	chr19:39391800-39412200	Weak transcription	Osteobl	bone
5	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:39395600-39414800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:39395600-39415000	Weak transcription	Hela-S3	cervix
10	chr19:39396800-39412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:39397000-39412200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:39398000-39412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:39398000-39420600	Weak transcription	Psoas Muscle	Psoas
14	chr19:39398200-39412200	Weak transcription	Brain Angular Gyrus	brain
15	chr19:39398400-39411600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:39398600-39415000	Weak transcription	Brain Substantia Nigra	brain
17	chr19:39398800-39411600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:39398800-39412000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:39398800-39412200	Weak transcription	NHEK	skin
20	chr19:39398800-39412400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:39398800-39415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:39399000-39412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:39399800-39412200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:39399800-39412200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr19:39399800-39414800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr19:39399800-39414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:39400000-39412000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr19:39400000-39412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:39400000-39412200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:39400000-39412200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:39400000-39412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:39400000-39414200	Weak transcription	Left Ventricle	heart
33	chr19:39400200-39412000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:39400200-39412000	Weak transcription	Aorta	Aorta
35	chr19:39400200-39412600	Weak transcription	Primary B cells from cord blood	blood
36	chr19:39400200-39412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:39401000-39412000	Weak transcription	Gastric	stomach
38	chr19:39402400-39412200	Weak transcription	Right Ventricle	heart
39	chr19:39402800-39420200	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:39403000-39412000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:39403000-39412000	Weak transcription	NHLF	lung
42	chr19:39403000-39412400	Weak transcription	Fetal Thymus	thymus
43	chr19:39403000-39415000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:39403400-39412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:39403400-39412200	Weak transcription	Brain Anterior Caudate	brain
46	chr19:39403400-39412400	Weak transcription	Fetal Brain Female	brain
47	chr19:39403600-39412400	Weak transcription	Fetal Lung	lung
48	chr19:39403600-39412400	Weak transcription	GM12878-XiMat	blood
49	chr19:39403600-39420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:39403800-39412400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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