Variant report

Variant	esv994842
Chromosome Location	chr19:42813904-42814432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42814045-42814095	NT2-D1	testis:	n/a
2	chr19:42814045-42814095	PrEC	prostate:	n/a
3	chr19:42814045-42814095	HCT-116	colon:	n/a
4	chr19:42814045-42814095	AoSMC	blood vessel:	n/a
5	chr19:42814045-42814095	HRCEpiC	kidney:	n/a
6	chr19:42814045-42814095	CMK	blood:	n/a
7	chr19:42814045-42814095	HRPEpiC	eye:	n/a
8	chr19:42814045-42814095	AG04449	skin:	fetal
9	chr19:42814045-42814095	HMEC	breast:	n/a
10	chr19:42814045-42814095	RPTEC	kidney:	n/a
11	chr19:42814045-42814095	IMR90	lung:	fetal
12	chr19:42814045-42814095	SK-N-SH_RA	brain:	n/a
13	chr19:42814045-42814095	HCF	heart:	n/a
14	chr19:42814045-42814095	Caco-2	colon:	n/a
15	chr19:42814045-42814095	HepG2	liver:	n/a
16	chr19:42814045-42814095	LNCaP	prostate:	n/a
17	chr19:42814045-42814095	GM12892	blood:	n/a
18	chr19:42814045-42814095	HUVEC	blood vessel:	n/a
19	chr19:42814045-42814095	SK-N-SH	brain:	n/a
20	chr19:42814045-42814095	AG10803	skin:	n/a
21	chr19:42814045-42814095	SAEC	small airway:	n/a
22	chr19:42814045-42814095	Jurkat	blood:	n/a
23	chr19:42814045-42814095	GM12891	blood:	n/a
24	chr19:42814045-42814095	Hepatocyte	liver:	n/a
25	chr19:42814045-42814095	NH-A	brain:	n/a
26	chr19:42814045-42814095	PFSK-1	brain:	n/a
27	chr19:42814045-42814095	ProgFib	skin:	n/a
28	chr19:42814045-42814095	NHBE	bronchial:	n/a
29	chr19:42814045-42814095	A549	lung:	n/a
30	chr19:42814045-42814095	HAEpiC	amniotic membrane:	n/a
31	chr19:42814045-42814095	PANC-1	pancreas:	n/a
32	chr19:42814045-42814095	GM12878	blood:	n/a
33	chr19:42814045-42814095	H1-hESC	embryonic stem cell:	embryo
34	chr19:42814045-42814095	HEK293	kidney:	embryo
35	chr19:42814045-42814095	HCM	heart:	n/a
36	chr19:42814045-42814095	HNPCEpiC	eye:	n/a
37	chr19:42814045-42814095	HCPEpiC	choroid plexus:	n/a
38	chr19:42814045-42814095	AG09309	skin:	n/a
39	chr19:42814045-42814095	ECC-1	luminal epithelium:	n/a
40	chr19:42814045-42814095	SK-N-MC	brain:	n/a
41	chr19:42814045-42814095	Hela-S3	cervix:	n/a
42	chr19:42814045-42814095	GM19239	blood:	n/a
43	chr19:42814045-42814095	HRE	kidney:	n/a
44	chr19:42814045-42814095	NHDF-neo	bronchial:	n/a
45	chr19:42814045-42814095	HEEpiC	esophagus:	n/a
46	chr19:42814045-42814095	BE2_C	brain:	n/a
47	chr19:42814045-42814095	HL-60	blood:	n/a
48	chr19:42814045-42814095	BJ	skin:	n/a
49	chr19:42814045-42814095	T-47D	breast:	n/a
50	chr19:42814045-42814095	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:42775700..42778314-chr19:42814238..42816528,2	K562	blood:
2	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
3	chr19:42800037..42802686-chr19:42813710..42815319,2	MCF-7	breast:
4	chr19:42804981..42810862-chr19:42813585..42819261,9	K562	blood:
5	chr19:42814347..42817419-chr19:42838492..42840570,3	K562	blood:

No data

Variant related genes	Relation type
TMEM145	CpG island
ENSG00000188368	chromatin interactions
ENSG00000079462	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147433253	chr19:42813920-42813921	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532229363	chr19:42813921-42813922	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139403468	chr19:42813938-42813939	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377275637	chr19:42813939-42813940	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369857462	chr19:42813948-42813949	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145027553	chr19:42813949-42813950	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141255938	chr19:42813956-42813957	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201566662	chr19:42813971-42813972	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529623831	chr19:42813974-42813975	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200535855	chr19:42813988-42813989	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567580310	chr19:42814031-42814032	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78424339	chr19:42814045-42814046	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs199870306	chr19:42814072-42814073	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139508954	chr19:42814091-42814092	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs149700943	chr19:42814129-42814130	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571436612	chr19:42814132-42814133	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs5024181	chr19:42814144-42814145	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200698601	chr19:42814146-42814147	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553943850	chr19:42814159-42814160	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143542522	chr19:42814166-42814167	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs5024182	chr19:42814172-42814173	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145319764	chr19:42814209-42814210	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199970161	chr19:42814214-42814215	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554910146	chr19:42814224-42814225	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369573882	chr19:42814225-42814226	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200334665	chr19:42814231-42814232	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376915635	chr19:42814251-42814252	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs5024183	chr19:42814258-42814259	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201988349	chr19:42814264-42814265	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374300391	chr19:42814299-42814300	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs78579884	chr19:42814302-42814303	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143861655	chr19:42814303-42814304	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368156714	chr19:42814313-42814314	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201124925	chr19:42814343-42814344	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370952874	chr19:42814356-42814357	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs145650509	chr19:42814369-42814370	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200342465	chr19:42814379-42814380	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559155617	chr19:42814391-42814392	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376284106	chr19:42814416-42814417	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184419176	chr19:42814423-42814424	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs267605513	chr19:42814427-42814428	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs117105573	chr19:42814428-42814429	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	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
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42807200-42817200	Weak transcription	Right Atrium	heart
2	chr19:42807600-42814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:42807800-42814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:42807800-42815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:42807800-42815800	Weak transcription	Fetal Stomach	stomach
6	chr19:42807800-42816200	Weak transcription	Brain Germinal Matrix	brain
7	chr19:42808000-42815600	Weak transcription	Fetal Brain Female	brain
8	chr19:42808200-42817000	Weak transcription	K562	blood
9	chr19:42808400-42816600	Weak transcription	Gastric	stomach
10	chr19:42811200-42814200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:42811400-42816600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:42811400-42817200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:42813600-42814000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:42813600-42814000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:42814000-42814200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:42814000-42814600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:42814000-42814800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:42814200-42814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:42814200-42814800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:42814400-42814600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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