Variant report

Variant	nsv9710
Chromosome Location	chr19:35720181-35724894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:183)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:35721082-35721272	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:35721018-35721264	K562	blood:	n/a	n/a
3	CEBPB	chr19:35722647-35722699	H1-hESC	embryonic stem cell:	n/a	n/a
4	EBF1	chr19:35724664-35724903	GM12878	blood:	n/a	chr19:35724774-35724785
5	EBF1	chr19:35724596-35724876	GM12878	blood:	n/a	chr19:35724774-35724785
6	EBF1	chr19:35724577-35724964	GM12878	blood:	n/a	chr19:35724774-35724785
7	FOXA1	chr19:35721133-35721397	HepG2	liver:	n/a	n/a
8	FOXA2	chr19:35721136-35721391	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35720739-35720789	HCPEpiC	choroid plexus:	n/a
2	chr19:35720295-35720345	ECC-1	luminal epithelium:	n/a
3	chr19:35720739-35720789	HepG2	liver:	n/a
4	chr19:35720739-35720789	HAEpiC	amniotic membrane:	n/a
5	chr19:35720142-35720192	HRE	kidney:	n/a
6	chr19:35720739-35720789	SK-N-SH	brain:	n/a
7	chr19:35720142-35720192	IMR90	lung:	fetal
8	chr19:35720142-35720192	HUVEC	blood vessel:	n/a
9	chr19:35720739-35720789	AG10803	skin:	n/a
10	chr19:35720142-35720192	HCT-116	colon:	n/a
11	chr19:35720739-35720789	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:35720295-35720345	HCT-116	colon:	n/a
13	chr19:35720739-35720789	AG04449	skin:	fetal
14	chr19:35720739-35720789	SK-N-MC	brain:	n/a
15	chr19:35720739-35720789	CMK	blood:	n/a
16	chr19:35720295-35720345	HIPEpiC	eye:	n/a
17	chr19:35720142-35720192	PrEC	prostate:	n/a
18	chr19:35720142-35720192	ovcar-3	ovarian:	n/a
19	chr19:35720295-35720345	NT2-D1	testis:	n/a
20	chr19:35720739-35720789	A549	lung:	n/a
21	chr19:35720295-35720345	Caco-2	colon:	n/a
22	chr19:35720295-35720345	IMR90	lung:	fetal
23	chr19:35720142-35720192	HEK293	kidney:	embryo
24	chr19:35720295-35720345	NHDF-neo	bronchial:	n/a
25	chr19:35720739-35720789	Caco-2	colon:	n/a
26	chr19:35720295-35720345	GM19239	blood:	n/a
27	chr19:35720739-35720789	T-47D	breast:	n/a
28	chr19:35720295-35720345	CMK	blood:	n/a
29	chr19:35720295-35720345	HEEpiC	esophagus:	n/a
30	chr19:35720142-35720192	HMEC	breast:	n/a
31	chr19:35720142-35720192	ProgFib	skin:	n/a
32	chr19:35720739-35720789	HIPEpiC	eye:	n/a
33	chr19:35720739-35720789	AoSMC	blood vessel:	n/a
34	chr19:35720142-35720192	K562	blood:	n/a
35	chr19:35720295-35720345	HCM	heart:	n/a
36	chr19:35720142-35720192	CMK	blood:	n/a
37	chr19:35720142-35720192	HIPEpiC	eye:	n/a
38	chr19:35720295-35720345	SAEC	small airway:	n/a
39	chr19:35720739-35720789	IMR90	lung:	fetal
40	chr19:35720739-35720789	K562	blood:	n/a
41	chr19:35720739-35720789	HNPCEpiC	eye:	n/a
42	chr19:35720142-35720192	HCPEpiC	choroid plexus:	n/a
43	chr19:35720142-35720192	SKMC	muscle:	n/a
44	chr19:35720739-35720789	SK-N-SH_RA	brain:	n/a
45	chr19:35720295-35720345	HEK293	kidney:	embryo
46	chr19:35720295-35720345	HUVEC	blood vessel:	n/a
47	chr19:35720142-35720192	GM12892	blood:	n/a
48	chr19:35720142-35720192	AoSMC	blood vessel:	n/a
49	chr19:35720142-35720192	NH-A	brain:	n/a
50	chr19:35720295-35720345	AoSMC	blood vessel:	n/a

(count:6 , 50 per page) page: 1

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	chr19:35718678..35720457-chr19:35738411..35740780,2	K562	blood:
4	chr19:35724794..35729029-chr19:35737284..35741399,5	MCF-7	breast:
5	chr19:35719219..35721551-chr19:35722834..35727069,3	K562	blood:
6	chr19:35723373..35727135-chr19:35736732..35741150,5	MCF-7	breast:

No data

Variant related genes	Relation type
FAM187B	TF binding region
FAM187B2P	TF binding region
FAM187B	CpG island
FAM187B2P	CpG island
ENSG00000262497	chromatin interactions
ENSG00000177558	chromatin interactions
ENSG00000105699	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576933507	chr19:35720200-35720201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115854327	chr19:35720206-35720207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562519390	chr19:35720226-35720227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73045840	chr19:35720296-35720297	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111627380	chr19:35720328-35720329	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561711154	chr19:35720373-35720374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs555294177	chr19:35720395-35720396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112922295	chr19:35720437-35720438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547239699	chr19:35720438-35720439	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs507251	chr19:35720459-35720460	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532692495	chr19:35720517-35720518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4805116	chr19:35720523-35720524	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373230593	chr19:35720539-35720540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569002334	chr19:35720578-35720579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74258132	chr19:35720627-35720628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185715520	chr19:35720643-35720644	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554519445	chr19:35720650-35720651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111985994	chr19:35720668-35720669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190085208	chr19:35720670-35720671	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149271989	chr19:35720671-35720672	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12972214	chr19:35720673-35720674	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577063888	chr19:35720695-35720696	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10408815	chr19:35720725-35720726	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528717	chr19:35720728-35720729	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576655279	chr19:35720765-35720766	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545068561	chr19:35720769-35720770	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs504389	chr19:35720776-35720777	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545331741	chr19:35720787-35720788	Enhancers Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541982763	chr19:35720818-35720819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561647082	chr19:35720842-35720843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527253954	chr19:35720866-35720867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540677123	chr19:35720877-35720878	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560802873	chr19:35720878-35720879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376789408	chr19:35720888-35720889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558707484	chr19:35720907-35720908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529858277	chr19:35720922-35720923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532708276	chr19:35720932-35720933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552351443	chr19:35720943-35720944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575391791	chr19:35720957-35720958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531676373	chr19:35720994-35720995	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs142441391	chr19:35720995-35720996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568482078	chr19:35721026-35721027	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs572279946	chr19:35721027-35721028	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs534149852	chr19:35721042-35721043	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs369471607	chr19:35721121-35721122	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs374741456	chr19:35721125-35721126	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs8110608	chr19:35721129-35721130	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs150815611	chr19:35721133-35721134	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs371898014	chr19:35721137-35721138	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs199549249	chr19:35721138-35721139	Weak transcription	TF binding region Chromatin interactive region	3 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:14 , 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	chr19:35717600-35720200	Enhancers	Brain Hippocampus Middle	brain
4	chr19:35718800-35720200	Enhancers	Brain Cingulate Gyrus	brain
5	chr19:35719600-35720600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:35720600-35720800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:35720800-35723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35721800-35723800	Weak transcription	Fetal Intestine Small	intestine
9	chr19:35722800-35723800	Strong transcription	Spleen	Spleen
10	chr19:35723000-35724000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr19:35723200-35723400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:35723600-35724200	Enhancers	HepG2	liver
13	chr19:35723800-35724400	Enhancers	Fetal Intestine Small	intestine
14	chr19:35723800-35725800	Weak transcription	Spleen	Spleen

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