Variant report

Variant	esv3375834
Chromosome Location	chr1:93872980-93904647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93808671..93811295-chr1:93877752..93880547,2	K562	blood:
2	chr1:93903697..93905547-chr1:93907055..93909310,2	MCF-7	breast:
3	chr1:93897978..93900954-chr1:93902157..93904039,2	K562	blood:
4	chr1:93897978..93900954-chr1:93902157..93904039,2	K562	blood:
5	chr1:93903600..93904188-chr1:94081046..94081681,2	K562	blood:
6	chr1:93811128..93814012-chr1:93881590..93883895,2	K562	blood:
7	chr1:93901125..93903938-chr1:94311961..94313592,2	MCF-7	breast:
8	chr1:93783418..93785179-chr1:93900538..93902737,2	K562	blood:
9	chr1:93899795..93902659-chr1:93905298..93908245,2	MCF-7	breast:
10	chr1:93903343..93903897-chr1:94095076..94095604,2	K562	blood:
11	chr1:93903297..93904174-chr1:94279235..94280195,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137936	chromatin interactions
ENSG00000223745	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000117505	chromatin interactions

Extended variants
information (count: 1080 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568751404	chr1:93872989-93872990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373214983	chr1:93873012-93873013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532861223	chr1:93873069-93873070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115132750	chr1:93873077-93873078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376132951	chr1:93873080-93873081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566422675	chr1:93873101-93873102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544570283	chr1:93873150-93873151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545250483	chr1:93873152-93873153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199973918	chr1:93873154-93873155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553605139	chr1:93873158-93873159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191240520	chr1:93873199-93873200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536182852	chr1:93873216-93873217	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183833502	chr1:93873231-93873232	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188445394	chr1:93873241-93873242	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192515768	chr1:93873266-93873267	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558296872	chr1:93873289-93873290	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149464163	chr1:93873307-93873308	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559532444	chr1:93873319-93873320	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2081567	chr1:93873360-93873361	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs529164864	chr1:93873450-93873451	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139884821	chr1:93873454-93873455	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143262451	chr1:93873455-93873456	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374379154	chr1:93873462-93873463	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61101021	chr1:93873478-93873479	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148455840	chr1:93873488-93873489	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566468627	chr1:93873534-93873535	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370357383	chr1:93873543-93873544	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527412545	chr1:93873545-93873546	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371013942	chr1:93873549-93873550	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567296707	chr1:93873550-93873551	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536106979	chr1:93873561-93873562	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557693781	chr1:93873608-93873609	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569437328	chr1:93873640-93873641	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185804951	chr1:93873664-93873665	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189936676	chr1:93873671-93873672	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138519898	chr1:93873690-93873691	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527468505	chr1:93873717-93873718	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558411294	chr1:93873740-93873741	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573239939	chr1:93873792-93873793	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563640149	chr1:93873795-93873796	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182052903	chr1:93873866-93873867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186229119	chr1:93873901-93873902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573982427	chr1:93873974-93873975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532891091	chr1:93873979-93873980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544061695	chr1:93873983-93873984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375495306	chr1:93873994-93873995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188545568	chr1:93874001-93874002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577389464	chr1:93874044-93874045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552883218	chr1:93874078-93874079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4847425	chr1:93874086-93874087	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93872800-93873000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr1:93872800-93873800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:93873000-93873800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:93873200-93874600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:93873200-93876000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr1:93873400-93875400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:93873400-93875600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:93873400-93876000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr1:93873400-93876200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr1:93873600-93874600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:93873600-93874600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr1:93873800-93874600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr1:93873800-93874600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:93874000-93875600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr1:93874200-93875600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr1:93874600-93875400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:93875400-93875600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:93875600-93876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:93875600-93877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:93875600-93877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:93875800-93876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:93876000-93876200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:93876000-93876800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:93876200-93876400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:93876200-93876600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:93876200-93876600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:93876200-93877000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:93876200-93877000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:93876200-93877600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:93876400-93876800	Enhancers	Stomach Mucosa	stomach
31	chr1:93876400-93877000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:93876600-93876800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:93876600-93877200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:93876800-93877200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:93876800-93877400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:93877000-93877200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:93877000-93877400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:93877000-93877600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:93877000-93877600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:93877200-93877400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:93877200-93877600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:93877200-93877600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:93877200-93877600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:93877200-93878200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:93877200-93878200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:93877200-93878800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:93877400-93878000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:93877400-93878200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:93877400-93879200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:93877600-93878400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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