Variant report

Variant	nsv999087
Chromosome Location	chr4:98737003-98860303
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	BACH1	chr4:98831268-98831463	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:98748818-98748844	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:98778997-98779197	K562	blood:	n/a	chr4:98779056-98779067
4	CEBPB	chr4:98849976-98850238	IMR90	lung:	n/a	n/a
5	CEBPB	chr4:98766860-98767235	H1-hESC	embryonic stem cell:	n/a	chr4:98767092-98767109
6	CEBPB	chr4:98795872-98796026	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:98832733-98832877	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:98778897-98779215	HepG2	liver:	n/a	chr4:98779056-98779067
9	CEBPB	chr4:98778907-98779234	IMR90	lung:	n/a	chr4:98779056-98779067
10	CTCF	chr4:98831185-98831594	HCT-116	colon:	n/a	chr4:98831342-98831355
11	CTCF	chr4:98831280-98831430	HEEpiC	esophagus:	n/a	chr4:98831342-98831355
12	CTCF	chr4:98832820-98832970	BE2_C	brain:	n/a	n/a
13	CTCF	chr4:98831182-98831512	GM12878	blood:	n/a	chr4:98831342-98831355
14	CTCF	chr4:98831280-98831400	Hela-S3	cervix:	n/a	chr4:98831342-98831355
15	CTCF	chr4:98831300-98831450	NB4	blood:	n/a	chr4:98831342-98831355
16	CTCF	chr4:98831240-98831434	H1-hESC	embryonic stem cell:	n/a	chr4:98831342-98831355
17	CTCF	chr4:98831301-98831378	GM13977	blood:	n/a	chr4:98831342-98831355
18	CTCF	chr4:98831260-98831410	NHEK	skin:	n/a	chr4:98831342-98831355
19	CTCF	chr4:98831250-98831442	Gliobla	brain:	n/a	chr4:98831342-98831355
20	CTCF	chr4:98831308-98831399	NHEK	skin:	n/a	chr4:98831342-98831355
21	CTCF	chr4:98831238-98831460	MCF-7	breast:	n/a	chr4:98831342-98831355
22	CTCF	chr4:98832580-98832730	BE2_C	brain:	n/a	n/a
23	CTCF	chr4:98832760-98832910	HEK293	kidney:	n/a	n/a
24	CTCF	chr4:98831260-98831410	GM12872	blood:	n/a	chr4:98831342-98831355
25	CTCF	chr4:98832800-98832950	HepG2	liver:	n/a	n/a
26	CTCF	chr4:98831310-98831391	GM19238	blood:	n/a	chr4:98831342-98831355
27	CTCF	chr4:98831080-98831230	HAc	cerebellar:	n/a	n/a
28	CTCF	chr4:98831260-98831410	HUVEC	blood vessel:	n/a	chr4:98831342-98831355
29	CTCF	chr4:98831311-98831433	Medullo	brain:	n/a	chr4:98831342-98831355
30	CTCF	chr4:98831287-98831377	SK-N-SH_RA	brain:	n/a	chr4:98831342-98831355
31	CTCF	chr4:98831220-98831370	HepG2	liver:	n/a	chr4:98831342-98831355
32	CTCF	chr4:98831260-98831410	GM12878	blood:	n/a	chr4:98831342-98831355
33	CTCF	chr4:98831280-98831430	HCT-116	colon:	n/a	chr4:98831342-98831355
34	CTCF	chr4:98831260-98831410	HRE	kidney:	n/a	chr4:98831342-98831355
35	CTCF	chr4:98831280-98831430	GM12868	blood:	n/a	chr4:98831342-98831355
36	CTCF	chr4:98831320-98831470	HCT-116	colon:	n/a	chr4:98831342-98831355
37	CTCF	chr4:98760065-98760101	Medullo	brain:	n/a	n/a
38	CTCF	chr4:98832816-98832910	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr4:98831320-98831470	GM12864	blood:	n/a	chr4:98831342-98831355
40	CTCF	chr4:98831280-98831430	BE2_C	brain:	n/a	chr4:98831342-98831355
41	CTCF	chr4:98844753-98844794	GM20000	blood:	n/a	n/a
42	CTCF	chr4:98832799-98832940	Gliobla	brain:	n/a	n/a
43	CTCF	chr4:98837791-98837871	Fibrobl	skin:	n/a	n/a
44	CTCF	chr4:98832780-98832930	HRE	kidney:	n/a	n/a
45	CTCF	chr4:98831220-98831370	HUVEC	blood vessel:	n/a	chr4:98831342-98831355
46	CTCF	chr4:98832820-98832970	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr4:98831280-98831430	GM12872	blood:	n/a	chr4:98831342-98831355
48	CTCF	chr4:98831303-98831406	GM12891	blood:	n/a	chr4:98831342-98831355
49	CTCF	chr4:98832780-98832930	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr4:98831260-98831410	SAEC	small airway:	n/a	chr4:98831342-98831355

No.	Distal block	Cell Line	Cell type
1	chr4:98790810..98793729-chr4:98795373..98798047,2	K562	blood:
2	chr4:98765331..98767165-chr4:99012892..99015543,2	K562	blood:
3	chr4:98790810..98793729-chr4:98795373..98798047,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN5-3	chr4:98814203-98814354	NONHSAT097477

Variant related genes	Relation type
STPG2	TF binding region
CRYZP2	TF binding region

Extended variants
information (count: 1853 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1853 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564934534	chr4:98738440-98738441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532696051	chr4:98738443-98738444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181113062	chr4:98738558-98738559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1456204	chr4:98738568-98738569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530267571	chr4:98738661-98738662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555126264	chr4:98738697-98738698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185667132	chr4:98738769-98738770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs649866	chr4:98738826-98738827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190474923	chr4:98738898-98738899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181652732	chr4:98738899-98738900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571249779	chr4:98739026-98739027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186173214	chr4:98739052-98739053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557195060	chr4:98739062-98739063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146389941	chr4:98739075-98739076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191872696	chr4:98739121-98739122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35111484	chr4:98739123-98739124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147125201	chr4:98739165-98739166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184114525	chr4:98739187-98739188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544380351	chr4:98739196-98739197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573048346	chr4:98739224-98739225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540308576	chr4:98739228-98739229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562569542	chr4:98739357-98739358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76424746	chr4:98739387-98739388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529232149	chr4:98739401-98739402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138539489	chr4:98739442-98739443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551540575	chr4:98739469-98739470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185787351	chr4:98739488-98739489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530316646	chr4:98739489-98739490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568075	chr4:98739524-98739525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143866309	chr4:98739525-98739526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191037604	chr4:98739540-98739541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143244903	chr4:98739546-98739547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546685325	chr4:98739600-98739601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373396985	chr4:98739601-98739602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571286858	chr4:98739620-98739621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13103769	chr4:98739640-98739641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550612807	chr4:98739641-98739642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569174051	chr4:98739642-98739643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182668191	chr4:98739652-98739653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113324103	chr4:98739683-98739684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34218233	chr4:98739698-98739699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527287580	chr4:98739711-98739712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572686909	chr4:98739732-98739733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77950260	chr4:98739766-98739767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549384266	chr4:98739824-98739825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529498124	chr4:98739845-98739846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577177919	chr4:98739872-98739873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544631909	chr4:98739888-98739889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562734122	chr4:98739899-98739900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370778727	chr4:98739936-98739937	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98738200-98741200	Enhancers	HUVEC	blood vessel
2	chr4:98756800-98757200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:98760000-98761000	Enhancers	Dnd41	blood
4	chr4:98760800-98761000	Enhancers	Liver	Liver
5	chr4:98762800-98763400	Enhancers	Liver	Liver
6	chr4:98763000-98764000	Enhancers	HUVEC	blood vessel
7	chr4:98763400-98767000	Weak transcription	Liver	Liver
8	chr4:98763800-98767000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:98766600-98767400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:98766600-98767400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:98766600-98768000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:98766800-98767400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:98767000-98767400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:98767000-98767400	Active TSS	Liver	Liver
15	chr4:98767000-98767600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:98767200-98767400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:98767200-98767400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:98767200-98767600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:98767400-98768600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:98767400-98768600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:98767400-98768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:98767400-98772200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:98767600-98768800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:98768000-98768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:98768000-98769200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:98768600-98769600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:98768600-98769800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:98768800-98769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:98768800-98769400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:98768800-98769800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:98769000-98769800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:98772200-98772600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:98787200-98787400	Enhancers	Fetal Kidney	kidney
34	chr4:98787200-98788200	Enhancers	Liver	Liver
35	chr4:98787400-98788800	Weak transcription	Fetal Kidney	kidney
36	chr4:98788000-98788200	Enhancers	Pancreas	Pancrea
37	chr4:98788200-98789400	Flanking Active TSS	Liver	Liver
38	chr4:98788400-98789000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr4:98788400-98789400	Enhancers	Brain Germinal Matrix	brain
40	chr4:98788400-98789600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:98788400-98789800	Enhancers	Fetal Lung	lung
42	chr4:98788800-98789000	Enhancers	Pancreas	Pancrea
43	chr4:98788800-98789200	Enhancers	HUVEC	blood vessel
44	chr4:98788800-98790000	Enhancers	Fetal Kidney	kidney
45	chr4:98789400-98791200	Enhancers	Liver	Liver
46	chr4:98794000-98794200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:98794200-98795200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:98795200-98795600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:98795400-98795800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:98797000-98797600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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