Variant report

Variant	nsv535246
Chromosome Location	chr1:190197674-190332464
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	ATF1	chr1:190274629-190274755	K562	blood:	n/a	n/a
2	ATF1	chr1:190233999-190234159	K562	blood:	n/a	n/a
3	CEBPB	chr1:190240204-190240347	A549	lung:	n/a	chr1:190240250-190240261
4	CEBPB	chr1:190219518-190219893	A549	lung:	n/a	chr1:190219706-190219717
5	CEBPB	chr1:190263285-190263571	HepG2	liver:	n/a	chr1:190263443-190263454
6	CEBPB	chr1:190219531-190219891	Hela-S3	cervix:	n/a	chr1:190219706-190219717
7	CEBPB	chr1:190219525-190219880	HepG2	liver:	n/a	chr1:190219706-190219717
8	CEBPB	chr1:190240187-190240378	K562	blood:	n/a	chr1:190240250-190240261
9	CEBPB	chr1:190263296-190263616	IMR90	lung:	n/a	chr1:190263443-190263454
10	CEBPB	chr1:190291942-190292221	A549	lung:	n/a	chr1:190292066-190292077
11	CEBPB	chr1:190263436-190263479	H1-hESC	embryonic stem cell:	n/a	chr1:190263443-190263454
12	CEBPB	chr1:190263314-190263549	A549	lung:	n/a	chr1:190263443-190263454
13	CEBPB	chr1:190219555-190219875	K562	blood:	n/a	chr1:190219706-190219717
14	CEBPB	chr1:190265627-190265945	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:190277395-190277633	A549	lung:	n/a	n/a
16	CEBPB	chr1:190240105-190240309	HepG2	liver:	n/a	chr1:190240250-190240261
17	CEBPB	chr1:190219568-190219865	H1-hESC	embryonic stem cell:	n/a	chr1:190219706-190219717
18	CEBPB	chr1:190291907-190292229	HepG2	liver:	n/a	chr1:190292066-190292077
19	CEBPB	chr1:190277363-190277573	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:190277364-190277599	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:190219521-190219893	IMR90	lung:	n/a	chr1:190219706-190219717
22	CEBPB	chr1:190265735-190265814	HepG2	liver:	n/a	n/a
23	CTCF	chr1:190290180-190290330	HMEC	breast:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
24	CTCF	chr1:190202313-190202385	A549	lung:	n/a	n/a
25	CTCF	chr1:190290200-190290350	RPTEC	kidney:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
26	CTCF	chr1:190239122-190239166	LNCaP	prostate:	n/a	n/a
27	CTCF	chr1:190301700-190301850	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr1:190290174-190290360	A549	lung:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
29	CTCF	chr1:190290200-190290350	AG04450	lung:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
30	CTCF	chr1:190290100-190290250	RPTEC	kidney:	n/a	n/a
31	CTCF	chr1:190289907-190290606	SK-N-SH	brain:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
32	CTCF	chr1:190290180-190290330	Caco-2	colon:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
33	CTCF	chr1:190290160-190290310	HCT-116	colon:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
34	CTCF	chr1:190202372-190202397	ProgFib	skin:	n/a	n/a
35	CTCF	chr1:190239076-190239178	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:190290200-190290334	HepG2	liver:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
37	CTCF	chr1:190290240-190290390	HUVEC	blood vessel:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
38	CTCF	chr1:190290244-190290336	A549	lung:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
39	CTCF	chr1:190239100-190239250	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:190290200-190290350	HPAF	blood vessel:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
41	CTCF	chr1:190290240-190290390	HBMEC	blood vessel:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
42	CTCF	chr1:190290260-190290410	GM12878	blood:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
43	CTCF	chr1:190313739-190313764	Medullo	brain:	n/a	n/a
44	CTCF	chr1:190309731-190309765	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:190290280-190290430	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:190290180-190290330	HCPEpiC	choroid plexus:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
47	CTCF	chr1:190290240-190290390	WERI-Rb-1	eye:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
48	CTCF	chr1:190290220-190290370	HAc	cerebellar:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
49	CTCF	chr1:190290220-190290370	GM12869	blood:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289
50	CTCF	chr1:190290182-190290385	LNCaP	prostate:	n/a	chr1:190290266-190290287 chr1:190290276-190290284 chr1:190290271-190290289

No.	Distal block	Cell Line	Cell type
1	chr1:190116840..190117442-chr1:190254256..190254849,2	MCF-7	breast:
2	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
3	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
4	chr1:190206890..190208942-chr1:190211398..190214340,2	K562	blood:
5	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:
6	chr1:190317641..190318618-chr20:52402718..52403693,2	MCF-7	breast:
7	chr1:190292061..190292926-chr8:96880412..96881301,2	MCF-7	breast:
8	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:
9	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
10	chr1:190228299..190231214-chr1:190232244..190234856,2	MCF-7	breast:
11	chr1:190235227..190237750-chr1:190243938..190246342,2	K562	blood:
12	chr1:190206890..190208942-chr1:190211398..190214340,2	K562	blood:
13	chr1:190235227..190237750-chr1:190243938..190246342,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-14	chr1:190200147-190200242	NONHSAT008492
2	lnc-RGS18-14	chr1:190211724-190211864	NONHSAT008492
3	lnc-RGS18-14	chr1:190245514-190247013	NONHSAT008492
4	lnc-RGS18-6	chr1:190271833-190271921	ENSG00000225811.1
5	lnc-RGS18-6	chr1:190311827-190311885	ENSG00000225811.1
6	lnc-RGS18-6	chr1:190234028-190234169	ENSG00000225811.1
7	lnc-RGS18-6	chr1:190331193-190331400	ENSG00000225811.1
8	lnc-RGS18-14	chr1:190201075-190201166	NONHSAT008492
9	lnc-RGS18-6	chr1:190311559-190311662	ENSG00000225811.1

Variant related genes	Relation type
ENSG00000225811	TF binding region
BRINP3	TF binding region
ENSG00000225811	chromatin interactions

Extended variants
information (count: 2315 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2315 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75565658	chr1:190197675-190197676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374432605	chr1:190197678-190197679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556632014	chr1:190197740-190197741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10920663	chr1:190197782-190197783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375629175	chr1:190197797-190197798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187465546	chr1:190197801-190197802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554868284	chr1:190197806-190197807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574581711	chr1:190197884-190197885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540004340	chr1:190197917-190197918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201929412	chr1:190197921-190197922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199876750	chr1:190197922-190197923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574884212	chr1:190197953-190197954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78069994	chr1:190197998-190197999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552622905	chr1:190198001-190198002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560291846	chr1:190198012-190198013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576906068	chr1:190198035-190198036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371342819	chr1:190198045-190198046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545475330	chr1:190198110-190198111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562172376	chr1:190198140-190198141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531175607	chr1:190198176-190198177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542300471	chr1:190198179-190198180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548482289	chr1:190198229-190198230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561998279	chr1:190198269-190198270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527987460	chr1:190198285-190198286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547718699	chr1:190198301-190198302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192311449	chr1:190198308-190198309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370176822	chr1:190198312-190198313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550267488	chr1:190198323-190198324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75439009	chr1:190198331-190198332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535805006	chr1:190198332-190198333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35216742	chr1:190198353-190198354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559142531	chr1:190198354-190198355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554903913	chr1:190198463-190198464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572759966	chr1:190198464-190198465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574689790	chr1:190198468-190198469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540336179	chr1:190198471-190198472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559991244	chr1:190198477-190198478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199556464	chr1:190198623-190198624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553717832	chr1:190198637-190198638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576945653	chr1:190198662-190198663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545510714	chr1:190198686-190198687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562205212	chr1:190198729-190198730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530793000	chr1:190198757-190198758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71794093	chr1:190198776-190198777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368012677	chr1:190198828-190198829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185538723	chr1:190198860-190198861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144129550	chr1:190198904-190198905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61819047	chr1:190198910-190198911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528011280	chr1:190198949-190198950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146424850	chr1:190198960-190198961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190196800-190204200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190208000-190208400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:190208400-190212000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190211800-190212200	Enhancers	Brain Germinal Matrix	brain
5	chr1:190212000-190213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:190212000-190213800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:190212200-190212600	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:190212200-190212600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:190212600-190213600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:190212600-190213600	Enhancers	Brain Germinal Matrix	brain
11	chr1:190212800-190213800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:190213200-190215400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:190213800-190214000	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:190215400-190215600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:190215600-190215800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:190224600-190232600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:190227000-190227400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:190227000-190228000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr1:190228000-190244200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:190249800-190267200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:190264200-190264800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:190284000-190284600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:190284200-190284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:190284600-190288000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:190288000-190288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:190294400-190296000	Enhancers	Fetal Heart	heart
27	chr1:190296800-190297200	Active TSS	Fetal Lung	lung
28	chr1:190296800-190298400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:190305000-190305200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:190317200-190317600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:190319000-190319400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:190322800-190323200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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