Variant report

Variant	nsv524195
Chromosome Location	chr19:35722226-35724000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:35722647-35722699	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35719219..35721551-chr19:35722834..35727069,3	K562	blood:
2	chr19:35720837..35725765-chr19:35738586..35741342,4	K562	blood:
3	chr19:35723373..35727135-chr19:35736732..35741150,5	MCF-7	breast:

Variant related genes	Relation type
FAM187B	TF binding region
FAM187B2P	TF binding region
ENSG00000105699	chromatin interactions
ENSG00000177558	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 64 )

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	rs4806115	chr19:35722226-35722227	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10410327	chr19:35722249-35722250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557537886	chr19:35722268-35722269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557867	chr19:35722338-35722339	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536606428	chr19:35722384-35722385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148871116	chr19:35722414-35722415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143569831	chr19:35722444-35722445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111844396	chr19:35722459-35722460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74823957	chr19:35722521-35722522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555911349	chr19:35722544-35722545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572521652	chr19:35722552-35722553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563317942	chr19:35722593-35722594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs477681	chr19:35722596-35722597	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191366216	chr19:35722639-35722640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369619398	chr19:35722640-35722641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543837528	chr19:35722661-35722662	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536793835	chr19:35722671-35722672	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563703156	chr19:35722681-35722682	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370360821	chr19:35722682-35722683	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529175473	chr19:35722727-35722728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554313	chr19:35722738-35722739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7251303	chr19:35722744-35722745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200998677	chr19:35722746-35722747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7249946	chr19:35722748-35722749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368052643	chr19:35722749-35722750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77870096	chr19:35722750-35722751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570998332	chr19:35722755-35722756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs398059694	chr19:35722759-35722760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11388620	chr19:35722760-35722761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138196968	chr19:35722773-35722774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143779381	chr19:35722814-35722815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375519707	chr19:35722858-35722859	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs117710424	chr19:35722864-35722865	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145718262	chr19:35722869-35722870	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554310643	chr19:35722881-35722882	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555739309	chr19:35722891-35722892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138668906	chr19:35722926-35722927	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541256424	chr19:35723018-35723019	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570064165	chr19:35723076-35723077	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558437071	chr19:35723086-35723087	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs482324	chr19:35723089-35723090	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs543971121	chr19:35723143-35723144	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141184435	chr19:35723183-35723184	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573922286	chr19:35723281-35723282	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543009765	chr19:35723334-35723335	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540115548	chr19:35723344-35723345	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528423584	chr19:35723345-35723346	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375578183	chr19:35723362-35723363	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551157910	chr19:35723365-35723366	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149409541	chr19:35723425-35723426	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35716400-35724400	Weak transcription	Lung	lung
2	chr19:35717000-35722800	Weak transcription	Spleen	Spleen
3	chr19:35720800-35723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:35721800-35723800	Weak transcription	Fetal Intestine Small	intestine
5	chr19:35722800-35723800	Strong transcription	Spleen	Spleen
6	chr19:35723000-35724000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr19:35723200-35723400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35723600-35724200	Enhancers	HepG2	liver
9	chr19:35723800-35724400	Enhancers	Fetal Intestine Small	intestine
10	chr19:35723800-35725800	Weak transcription	Spleen	Spleen

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