Variant report

Variant	nsv978816
Chromosome Location	chr19:41388339-41391686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:41388830-41388853	LNCaP	prostate:	n/a	n/a
2	FOXA2	chr19:41390017-41390478	A549	lung:	n/a	chr19:41390334-41390346
3	NR3C1	chr19:41389943-41390913	A549	lung:	n/a	chr19:41390248-41390266 chr19:41390533-41390540
4	POLR2A	chr19:41390853-41391041	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41389684-41389734	AG04449	skin:	fetal
2	chr19:41389684-41389734	BE2_C	brain:	n/a
3	chr19:41388384-41388434	HNPCEpiC	eye:	n/a
4	chr19:41389684-41389734	HMEC	breast:	n/a
5	chr19:41388384-41388434	GM12878	blood:	n/a
6	chr19:41389684-41389734	Jurkat	blood:	n/a
7	chr19:41388384-41388434	GM19239	blood:	n/a
8	chr19:41388384-41388434	HEEpiC	esophagus:	n/a
9	chr19:41389684-41389734	ProgFib	skin:	n/a
10	chr19:41388384-41388434	GM12892	blood:	n/a
11	chr19:41389684-41389734	PrEC	prostate:	n/a
12	chr19:41388384-41388434	A549	lung:	n/a
13	chr19:41389684-41389734	HIPEpiC	eye:	n/a
14	chr19:41388384-41388434	AG10803	skin:	n/a
15	chr19:41388384-41388434	HIPEpiC	eye:	n/a
16	chr19:41389684-41389734	NH-A	brain:	n/a
17	chr19:41389684-41389734	SAEC	small airway:	n/a
18	chr19:41388384-41388434	AG04449	skin:	fetal
19	chr19:41388384-41388434	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:41389684-41389734	K562	blood:	n/a
21	chr19:41388384-41388434	SAEC	small airway:	n/a
22	chr19:41388384-41388434	H1-hESC	embryonic stem cell:	embryo
23	chr19:41388384-41388434	SK-N-SH	brain:	n/a
24	chr19:41388384-41388434	ProgFib	skin:	n/a
25	chr19:41388384-41388434	MCF10A-Er-Src	breast:	n/a
26	chr19:41388384-41388434	HMEC	breast:	n/a
27	chr19:41388384-41388434	NT2-D1	testis:	n/a
28	chr19:41389684-41389734	ECC-1	luminal epithelium:	n/a
29	chr19:41388384-41388434	SKMC	muscle:	n/a
30	chr19:41388384-41388434	U87	brain:	n/a
31	chr19:41388384-41388434	K562	blood:	n/a
32	chr19:41389684-41389734	GM12878	blood:	n/a
33	chr19:41388384-41388434	Hela-S3	cervix:	n/a
34	chr19:41388384-41388434	T-47D	breast:	n/a
35	chr19:41388384-41388434	AoSMC	blood vessel:	n/a
36	chr19:41388384-41388434	HCM	heart:	n/a
37	chr19:41389684-41389734	H1-hESC	embryonic stem cell:	embryo
38	chr19:41389684-41389734	HRPEpiC	eye:	n/a
39	chr19:41388384-41388434	AG09319	gingival:	n/a
40	chr19:41389684-41389734	NHDF-neo	bronchial:	n/a
41	chr19:41388384-41388434	BE2_C	brain:	n/a
42	chr19:41389684-41389734	HCT-116	colon:	n/a
43	chr19:41389684-41389734	HCPEpiC	choroid plexus:	n/a
44	chr19:41388384-41388434	GM06990	blood:	n/a
45	chr19:41389684-41389734	GM19239	blood:	n/a
46	chr19:41389684-41389734	HepG2	liver:	n/a
47	chr19:41389684-41389734	BJ	skin:	n/a
48	chr19:41388384-41388434	PFSK-1	brain:	n/a
49	chr19:41388384-41388434	HUVEC	blood vessel:	n/a
50	chr19:41389684-41389734	IMR90	lung:	fetal

No data

Variant related genes	Relation type
CYP2A7	TF binding region
CYP2A7	CpG island

Extended variants
information (count: 155 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527401331	chr19:41388342-41388343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540388418	chr19:41388358-41388359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562148994	chr19:41388363-41388364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185401441	chr19:41388377-41388378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2935234	chr19:41388384-41388385	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs187280527	chr19:41388385-41388386	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs2909905	chr19:41388390-41388391	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs370996677	chr19:41388393-41388394	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs537547587	chr19:41388395-41388396	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs74680059	chr19:41388403-41388404	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs191746810	chr19:41388407-41388408	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs183836750	chr19:41388422-41388423	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs556123332	chr19:41388425-41388426	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs551812688	chr19:41388451-41388452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566927864	chr19:41388456-41388457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143516768	chr19:41388482-41388483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563064710	chr19:41388495-41388496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2935233	chr19:41388498-41388499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555943144	chr19:41388518-41388519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201716391	chr19:41388558-41388559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386809296	chr19:41388560-41388561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4803392	chr19:41388562-41388563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4803393	chr19:41388575-41388576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577891510	chr19:41388576-41388577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375720004	chr19:41388585-41388586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200473892	chr19:41388592-41388593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2644901	chr19:41388595-41388596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111760455	chr19:41388604-41388605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553362194	chr19:41388638-41388639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144102339	chr19:41388699-41388700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3797218	chr19:41388707-41388708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs561080162	chr19:41388709-41388710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184253141	chr19:41388728-41388729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79809963	chr19:41388735-41388736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs28602288	chr19:41388740-41388741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533674849	chr19:41388769-41388770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28427254	chr19:41388777-41388778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76734307	chr19:41388801-41388802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs11083580	chr19:41388836-41388837	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs549482212	chr19:41388840-41388841	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs73032332	chr19:41388843-41388844	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs537617733	chr19:41388877-41388878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556341297	chr19:41388902-41388903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79228693	chr19:41388938-41388939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11083581	chr19:41388949-41388950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141144155	chr19:41388962-41388963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571701996	chr19:41388991-41388992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374957206	chr19:41388992-41388993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541900098	chr19:41389022-41389023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369168490	chr19:41389026-41389027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41387000-41388400	Enhancers	Fetal Intestine Large	intestine
2	chr19:41387000-41389800	Enhancers	Liver	Liver
3	chr19:41387800-41388400	Enhancers	Duodenum Mucosa	Duodenum
4	chr19:41387800-41388600	Enhancers	Fetal Intestine Small	intestine
5	chr19:41387800-41388800	Enhancers	Stomach Mucosa	stomach
6	chr19:41388400-41390200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:41388800-41390400	Weak transcription	Stomach Mucosa	stomach
8	chr19:41389800-41392400	Weak transcription	Liver	Liver
9	chr19:41390200-41390600	Enhancers	Fetal Intestine Large	intestine
10	chr19:41390400-41390600	Enhancers	Duodenum Mucosa	Duodenum
11	chr19:41390400-41390600	Enhancers	Fetal Intestine Small	intestine
12	chr19:41390400-41390600	Enhancers	Stomach Mucosa	stomach

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