Variant report

Variant	nsv1000853
Chromosome Location	chr4:9632436-9696765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:500)
CpG islands
(count:549)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr4:9693437-9693703	K562	blood:	n/a	n/a
2	BACH1	chr4:9689846-9689882	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr4:9661312-9661676	GM12878	blood:	n/a	n/a
4	BATF	chr4:9661377-9661663	GM12878	blood:	n/a	n/a
5	BATF	chr4:9637521-9637725	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:9637557-9637806	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:9661303-9661712	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:9693955-9694191	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:9693135-9693538	HepG2	liver:	n/a	chr4:9693155-9693171
10	BHLHE40	chr4:9661297-9661608	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:9693347-9693648	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:9693184-9693740	K562	blood:	n/a	n/a
13	CCNT2	chr4:9693190-9693570	K562	blood:	n/a	n/a
14	CEBPB	chr4:9661262-9661447	K562	blood:	n/a	n/a
15	CEBPB	chr4:9637488-9637693	HepG2	liver:	n/a	chr4:9637617-9637628
16	CEBPB	chr4:9639784-9639891	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr4:9661520-9661670	WI-38	lung:	n/a	n/a
18	CTCF	chr4:9682992-9683054	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr4:9661500-9661650	GM12867	blood:	n/a	n/a
20	CTCF	chr4:9663718-9663788	GM12892	blood:	n/a	n/a
21	CTCF	chr4:9684679-9684781	GM10248	blood:	n/a	n/a
22	CTCF	chr4:9661351-9661660	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr4:9669904-9669981	Medullo	brain:	n/a	n/a
24	CTCF	chr4:9663505-9664014	K562	blood:	n/a	n/a
25	CTCF	chr4:9661900-9662050	AG10803	skin:	n/a	n/a
26	CTCF	chr4:9665102-9665156	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr4:9681145-9681191	GM20000	blood:	n/a	n/a
28	CTCF	chr4:9637411-9637794	A549	lung:	n/a	n/a
29	CTCF	chr4:9661426-9661427	K562	blood:	n/a	n/a
30	CTCF	chr4:9661486-9661613	HepG2	liver:	n/a	n/a
31	CTCF	chr4:9659858-9659966	HepG2	liver:	n/a	n/a
32	CTCF	chr4:9661460-9661610	GM12872	blood:	n/a	n/a
33	CTCF	chr4:9661407-9661647	GM12878	blood:	n/a	n/a
34	CTCF	chr4:9661460-9661610	GM12874	blood:	n/a	n/a
35	CTCF	chr4:9661374-9661674	LNCaP	prostate:	n/a	n/a
36	CTCF	chr4:9663696-9663813	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr4:9661424-9661677	A549	lung:	n/a	n/a
38	CTCF	chr4:9659901-9659959	GM13976	blood:	n/a	n/a
39	CTCF	chr4:9663719-9663783	GM19238	blood:	n/a	n/a
40	CTCF	chr4:9661120-9661270	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr4:9661400-9661675	GM10248	blood:	n/a	n/a
42	CTCF	chr4:9659840-9659954	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:9661424-9661662	NHEK	skin:	n/a	n/a
44	CTCF	chr4:9661287-9661733	A549	lung:	n/a	n/a
45	CTCF	chr4:9659879-9659929	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr4:9661469-9661612	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr4:9661433-9661643	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:9661397-9661494	HepG2	liver:	n/a	n/a
49	CTCF	chr4:9661418-9661628	IMR90	lung:	n/a	n/a
50	CTCF	chr4:9661437-9661643	MCF-7	breast:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9653008-9653058	ovcar-3	ovarian:	n/a
2	chr4:9693312-9693362	GM06990	blood:	n/a
3	chr4:9693329-9693379	AG10803	skin:	n/a
4	chr4:9653008-9653058	BE2_C	brain:	n/a
5	chr4:9689364-9689414	Jurkat	blood:	n/a
6	chr4:9693516-9693566	HepG2	liver:	n/a
7	chr4:9692836-9692886	PrEC	prostate:	n/a
8	chr4:9692836-9692886	GM12892	blood:	n/a
9	chr4:9693329-9693379	HL-60	blood:	n/a
10	chr4:9693312-9693362	SKMC	muscle:	n/a
11	chr4:9661405-9661455	PrEC	prostate:	n/a
12	chr4:9693329-9693379	PFSK-1	brain:	n/a
13	chr4:9693312-9693362	HIPEpiC	eye:	n/a
14	chr4:9692836-9692886	HPAEpiC	pulmonary alveolar:	n/a
15	chr4:9693312-9693362	AG09309	skin:	n/a
16	chr4:9689364-9689414	PANC-1	pancreas:	n/a
17	chr4:9689364-9689414	HUVEC	blood vessel:	n/a
18	chr4:9689364-9689414	HL-60	blood:	n/a
19	chr4:9661405-9661455	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:9689364-9689414	HIPEpiC	eye:	n/a
21	chr4:9693329-9693379	AG04449	skin:	fetal
22	chr4:9693516-9693566	AG09319	gingival:	n/a
23	chr4:9693312-9693362	NH-A	brain:	n/a
24	chr4:9653008-9653058	AG09309	skin:	n/a
25	chr4:9692836-9692886	HEEpiC	esophagus:	n/a
26	chr4:9689364-9689414	HEEpiC	esophagus:	n/a
27	chr4:9689364-9689414	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:9661405-9661455	AG10803	skin:	n/a
29	chr4:9693312-9693362	HEEpiC	esophagus:	n/a
30	chr4:9693516-9693566	NHBE	bronchial:	n/a
31	chr4:9692836-9692886	GM12891	blood:	n/a
32	chr4:9693329-9693379	MCF10A-Er-Src	breast:	n/a
33	chr4:9693764-9693814	GM12878	blood:	n/a
34	chr4:9693312-9693362	HMEC	breast:	n/a
35	chr4:9693329-9693379	T-47D	breast:	n/a
36	chr4:9653008-9653058	HCPEpiC	choroid plexus:	n/a
37	chr4:9693516-9693566	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:9693312-9693362	AG04450	lung:	fetal
39	chr4:9692836-9692886	HUVEC	blood vessel:	n/a
40	chr4:9693312-9693362	H1-hESC	embryonic stem cell:	embryo
41	chr4:9661405-9661455	T-47D	breast:	n/a
42	chr4:9692836-9692886	HCF	heart:	n/a
43	chr4:9689364-9689414	BE2_C	brain:	n/a
44	chr4:9693312-9693362	SK-N-SH	brain:	n/a
45	chr4:9693312-9693362	SAEC	small airway:	n/a
46	chr4:9653008-9653058	IMR90	lung:	fetal
47	chr4:9693764-9693814	K562	blood:	n/a
48	chr4:9693312-9693362	ovcar-3	ovarian:	n/a
49	chr4:9692836-9692886	Jurkat	blood:	n/a
50	chr4:9693312-9693362	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:9533415..9534346-chr4:9660887..9661684,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-15	chr4:9681973-9682135	l_2602_chr4:9680111-9682135_thyroid
2	lnc-SLC2A9-6	chr4:9680180-9680546	l_2603_chr4:9680179-9682164_kidney
3	lnc-DRD5-15	chr4:9680112-9680551	l_2602_chr4:9680111-9682135_thyroid
4	lnc-SLC2A9-2	chr4:9693361-9693365	XLOC_003880
5	lnc-SLC2A9-1	chr4:9686325-9686330	XLOC_003881
6	lnc-DRD5-16	chr4:9678932-9679558	NONHSAT095141
7	lnc-SLC2A9-6	chr4:9681968-9682164	l_2603_chr4:9680179-9682164_kidney
8	lnc-SLC2A9-1	chr4:9691882-9692319	XLOC_003881
9	lnc-SLC2A9-2	chr4:9682416-9682671	XLOC_003880

No data

Variant related genes	Relation type
ENPP7P11	TF binding region
FAM86MP	TF binding region
ENPP7P11	CpG island
FAM86MP	CpG island
FBXW7	miRNA target sites

Extended variants
information (count: 3566 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3566 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549818933	chr4:9632440-9632441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373804390	chr4:9632481-9632482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571518352	chr4:9632502-9632503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367730986	chr4:9632537-9632538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559763198	chr4:9632545-9632546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371260114	chr4:9632562-9632563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547560139	chr4:9632563-9632564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566275860	chr4:9632603-9632604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180885280	chr4:9632604-9632605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111656532	chr4:9632606-9632607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569586504	chr4:9632607-9632608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537151145	chr4:9632608-9632609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558650741	chr4:9632623-9632624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577133618	chr4:9632629-9632630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541255913	chr4:9632630-9632631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185891508	chr4:9632656-9632657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368009643	chr4:9632661-9632662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199807214	chr4:9632668-9632669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11727921	chr4:9632675-9632676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561130741	chr4:9632678-9632679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141750992	chr4:9632683-9632684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543529466	chr4:9632684-9632685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111352074	chr4:9632685-9632686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116422411	chr4:9632691-9632692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547712849	chr4:9632696-9632697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369963979	chr4:9632706-9632707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189826348	chr4:9632754-9632755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530328721	chr4:9632764-9632765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146231411	chr4:9632765-9632766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569684506	chr4:9632766-9632767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537016264	chr4:9632785-9632786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182049125	chr4:9632791-9632792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369402017	chr4:9632805-9632806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570595577	chr4:9632813-9632814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373461600	chr4:9632817-9632818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372942680	chr4:9632823-9632824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534700428	chr4:9632828-9632829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552939957	chr4:9632836-9632837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574530455	chr4:9632837-9632838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376216903	chr4:9632841-9632842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11733921	chr4:9632876-9632877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557188905	chr4:9632885-9632886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576052934	chr4:9632890-9632891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11728002	chr4:9632904-9632905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564924473	chr4:9632906-9632907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532514174	chr4:9632907-9632908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186383860	chr4:9632911-9632912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570736383	chr4:9632928-9632929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190746279	chr4:9632929-9632930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11731299	chr4:9632932-9632933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9624800-9637600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:9627000-9639000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:9627800-9634400	Weak transcription	Brain Anterior Caudate	brain
4	chr4:9634400-9639400	Enhancers	Fetal Thymus	thymus
5	chr4:9637800-9638800	Enhancers	Thymus	Thymus
6	chr4:9640800-9643000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:9643000-9643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:9643200-9645800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:9643800-9644000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:9661200-9661400	Enhancers	Fetal Muscle Leg	muscle
11	chr4:9661200-9662200	Weak transcription	Fetal Thymus	thymus
12	chr4:9661400-9662600	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:9662600-9662800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:9662800-9663400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:9663400-9663600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:9664800-9675600	Weak transcription	Fetal Thymus	thymus
17	chr4:9672400-9672600	Enhancers	Brain Hippocampus Middle	brain
18	chr4:9672400-9672600	Enhancers	Fetal Stomach	stomach
19	chr4:9672400-9672600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:9672400-9672800	Enhancers	Ovary	ovary
21	chr4:9672400-9673000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:9672400-9673000	Enhancers	Fetal Lung	lung
23	chr4:9672400-9673000	Enhancers	Left Ventricle	heart
24	chr4:9672400-9673000	Enhancers	Right Atrium	heart
25	chr4:9672400-9673200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:9672400-9673200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:9672400-9687000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:9672600-9673000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:9672600-9673000	Enhancers	Fetal Muscle Trunk	muscle
30	chr4:9672600-9673000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr4:9672600-9673200	Enhancers	Fetal Muscle Leg	muscle
32	chr4:9673000-9692400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:9673200-9692600	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:9675600-9676000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:9675600-9676000	Enhancers	Fetal Thymus	thymus
36	chr4:9675600-9676200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:9676600-9680000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:9676600-9681200	Weak transcription	Fetal Stomach	stomach
39	chr4:9680200-9680800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:9681200-9682000	ZNF genes & repeats	Fetal Stomach	stomach
41	chr4:9681400-9681600	Weak transcription	Fetal Thymus	thymus
42	chr4:9681600-9682000	ZNF genes & repeats	Fetal Thymus	thymus
43	chr4:9682000-9683000	Weak transcription	Fetal Stomach	stomach
44	chr4:9682000-9686800	Weak transcription	Fetal Thymus	thymus
45	chr4:9686800-9687200	Enhancers	Brain Germinal Matrix	brain
46	chr4:9686800-9687200	Enhancers	Fetal Thymus	thymus
47	chr4:9686800-9687800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:9687000-9687600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:9687000-9687600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:9687200-9691800	Weak transcription	Fetal Thymus	thymus

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