Variant report

Variant	esv3483160
Chromosome Location	chr9:100806167-100814815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:100807539-100808049	K562	blood:	n/a	n/a
2	ARID3A	chr9:100809217-100809676	K562	blood:	n/a	n/a
3	ARID3A	chr9:100811680-100812009	K562	blood:	n/a	n/a
4	ATF1	chr9:100807632-100807990	K562	blood:	n/a	n/a
5	ATF2	chr9:100807635-100808154	GM12878	blood:	n/a	n/a
6	ATF2	chr9:100807608-100808146	GM12878	blood:	n/a	n/a
7	ATF3	chr9:100807702-100808109	K562	blood:	n/a	n/a
8	BACH1	chr9:100806345-100806565	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr9:100807706-100808067	GM12878	blood:	n/a	n/a
10	BCLAF1	chr9:100807716-100808172	GM12878	blood:	n/a	n/a
11	CBX3	chr9:100809089-100809882	K562	blood:	n/a	n/a
12	CBX3	chr9:100807293-100808176	K562	blood:	n/a	n/a
13	CBX3	chr9:100807073-100808321	K562	blood:	n/a	n/a
14	CCNT2	chr9:100809414-100809590	K562	blood:	n/a	n/a
15	CEBPB	chr9:100807682-100807932	K562	blood:	n/a	n/a
16	CEBPB	chr9:100807246-100807395	K562	blood:	n/a	n/a
17	CEBPB	chr9:100807621-100808200	K562	blood:	n/a	n/a
18	CEBPD	chr9:100807595-100808118	K562	blood:	n/a	n/a
19	CHD1	chr9:100808299-100808309	GM12878	blood:	n/a	n/a
20	CHD2	chr9:100809214-100809698	K562	blood:	n/a	n/a
21	CHD2	chr9:100809465-100809500	GM12878	blood:	n/a	n/a
22	CHD2	chr9:100807548-100808125	K562	blood:	n/a	n/a
23	CREB1	chr9:100807573-100808105	HepG2	liver:	n/a	n/a
24	CREB1	chr9:100807508-100808153	GM12878	blood:	n/a	n/a
25	CREB1	chr9:100807482-100808145	HepG2	liver:	n/a	n/a
26	CREB1	chr9:100807334-100808225	K562	blood:	n/a	n/a
27	CREB1	chr9:100807476-100808113	GM12878	blood:	n/a	n/a
28	CTCF	chr9:100807940-100808090	GM12865	blood:	n/a	n/a
29	CTCF	chr9:100807720-100807870	GM12870	blood:	n/a	n/a
30	CTCF	chr9:100807820-100807970	GM06990	blood:	n/a	n/a
31	CTCF	chr9:100807900-100808050	HMF	breast:	n/a	n/a
32	CTCF	chr9:100807720-100807870	GM12869	blood:	n/a	n/a
33	CTCF	chr9:100807823-100807899	GM13977	blood:	n/a	n/a
34	CTCF	chr9:100807800-100807950	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr9:100808060-100808210	HCT-116	colon:	n/a	n/a
36	CTCF	chr9:100807800-100807950	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:100807860-100808010	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr9:100807940-100808090	GM12869	blood:	n/a	n/a
39	CTCF	chr9:100807900-100808050	GM12865	blood:	n/a	n/a
40	CTCF	chr9:100807840-100807990	GM12868	blood:	n/a	n/a
41	CTCF	chr9:100807760-100807910	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr9:100807800-100807950	GM12872	blood:	n/a	n/a
43	CTCF	chr9:100807780-100807930	GM12872	blood:	n/a	n/a
44	CTCF	chr9:100813081-100813121	Fibrobl	skin:	n/a	n/a
45	CTCF	chr9:100807820-100807970	GM12871	blood:	n/a	n/a
46	CTCF	chr9:100807811-100807911	GM13976	blood:	n/a	n/a
47	CTCF	chr9:100807740-100807890	HepG2	liver:	n/a	n/a
48	CTCF	chr9:100807860-100808010	HEK293	kidney:	n/a	n/a
49	CTCF	chr9:100807830-100807906	GM12878	blood:	n/a	n/a
50	CTCF	chr9:100808100-100808250	GM12866	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100743649..100747393-chr9:100806371..100809307,4	K562	blood:
2	chr9:100812637..100815106-chr9:100817622..100819203,2	MCF-7	breast:
3	chr9:100806589..100809484-chr9:100810464..100812482,2	MCF-7	breast:
4	chr9:100526425..100528697-chr9:100814086..100815936,2	K562	blood:
5	chr9:100686261..100688755-chr9:100806613..100809213,2	K562	blood:
6	chr9:100764058..100766868-chr9:100813961..100815903,2	K562	blood:
7	chr9:100806291..100808002-chr9:100817271..100819268,2	MCF-7	breast:
8	chr9:100679327..100688755-chr9:100804829..100810921,12	K562	blood:
9	chr9:100747311..100750172-chr9:100810567..100812505,2	K562	blood:
10	chr9:100796501..100799835-chr9:100807798..100809968,3	K562	blood:
11	chr9:100812046..100815738-chr9:100818810..100820929,4	K562	blood:
12	chr9:100745241..100747165-chr9:100808229..100811065,2	MCF-7	breast:
13	chr9:100810924..100812483-chr9:100817790..100820656,2	MCF-7	breast:
14	chr9:100743537..100749297-chr9:100805473..100813198,12	K562	blood:
15	chr9:100799367..100802266-chr9:100805470..100807708,2	MCF-7	breast:
16	chr9:100803503..100806202-chr9:100818187..100820098,2	MCF-7	breast:
17	chr9:100744535..100746584-chr9:100805455..100807504,2	MCF-7	breast:
18	chr9:100685001..100687073-chr9:100804782..100806329,2	K562	blood:
19	chr9:100661987..100664493-chr9:100807895..100810404,2	K562	blood:
20	chr9:100458298..100461061-chr9:100806544..100809239,2	K562	blood:
21	chr9:100697076..100699494-chr9:100808652..100811016,2	K562	blood:
22	chr9:100806589..100809484-chr9:100810464..100812482,2	MCF-7	breast:
23	chr9:100797529..100799265-chr9:100810758..100812808,2	K562	blood:

No data

Variant related genes	Relation type
NANS	TF binding region
ENSG00000136932	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000236896	chromatin interactions

Extended variants
information (count: 301 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573919204	chr9:100806223-100806224	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185902104	chr9:100806250-100806251	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201451541	chr9:100806288-100806289	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528767474	chr9:100806375-100806376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs62575571	chr9:100806477-100806478	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371205439	chr9:100806493-100806494	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565098892	chr9:100806561-100806562	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs373141902	chr9:100806597-100806598	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs527885113	chr9:100806599-100806600	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs191936096	chr9:100806616-100806617	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs567857251	chr9:100806644-100806645	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs141510117	chr9:100806647-100806648	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs150601314	chr9:100806648-100806649	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs79120973	chr9:100806676-100806677	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs536978598	chr9:100806725-100806726	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376215016	chr9:100806728-100806729	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143266610	chr9:100806747-100806748	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs568884929	chr9:100806758-100806759	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs146677732	chr9:100806803-100806804	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs557887913	chr9:100806804-100806805	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs184238972	chr9:100806805-100806806	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs533738704	chr9:100806861-100806862	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs185870319	chr9:100806900-100806901	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs533088316	chr9:100806934-100806935	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs139013390	chr9:100806943-100806944	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs542536693	chr9:100807030-100807031	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs556105357	chr9:100807046-100807047	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs191169867	chr9:100807060-100807061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs112527018	chr9:100807061-100807062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs576040366	chr9:100807068-100807069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs182355438	chr9:100807095-100807096	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs534052467	chr9:100807107-100807108	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs372794032	chr9:100807166-100807167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs551184031	chr9:100807197-100807198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs541242292	chr9:100807260-100807261	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs114511336	chr9:100807261-100807262	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs574550785	chr9:100807323-100807324	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs530295073	chr9:100807341-100807342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs370482668	chr9:100807359-100807360	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs550502805	chr9:100807455-100807456	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs568823497	chr9:100807504-100807505	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs145227101	chr9:100807505-100807506	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs535334347	chr9:100807514-100807515	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs531329049	chr9:100807531-100807532	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs71369549	chr9:100807536-100807537	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs150067371	chr9:100807551-100807552	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs145388283	chr9:100807612-100807613	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs533915442	chr9:100807625-100807626	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs372510594	chr9:100807631-100807632	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553658576	chr9:100807653-100807654	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100798000-100807000	Weak transcription	Spleen	Spleen
2	chr9:100798000-100807600	Weak transcription	HSMMtube	muscle
3	chr9:100798200-100807400	Weak transcription	Primary B cells from cord blood	blood
4	chr9:100800200-100807000	Weak transcription	K562	blood
5	chr9:100800400-100806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:100801800-100807400	Weak transcription	HSMM	muscle
7	chr9:100802400-100809600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:100802800-100807600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:100804800-100807800	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:100805200-100807000	Enhancers	GM12878-XiMat	blood
11	chr9:100805800-100806200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr9:100805800-100807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:100806000-100806600	Enhancers	Primary hematopoietic stem cells	blood
14	chr9:100806000-100807000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:100806000-100807200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr9:100806000-100808000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr9:100806200-100806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:100806200-100806600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr9:100806400-100807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:100806600-100807400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:100806600-100807400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr9:100807000-100807200	Enhancers	Dnd41	blood
23	chr9:100807000-100807400	Enhancers	Spleen	Spleen
24	chr9:100807000-100807400	Enhancers	K562	blood
25	chr9:100807000-100807600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr9:100807000-100807600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr9:100807000-100807600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:100807000-100807600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr9:100807000-100807600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr9:100807000-100807600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr9:100807000-100807600	Flanking Active TSS	GM12878-XiMat	blood
32	chr9:100807000-100807800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr9:100807000-100807800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:100807000-100807800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:100807200-100807400	Enhancers	Primary T cells from cord blood	blood
36	chr9:100807200-100807400	Enhancers	HepG2	liver
37	chr9:100807200-100807600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:100807200-100807600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:100807200-100807600	Flanking Active TSS	Dnd41	blood
40	chr9:100807200-100807800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:100807200-100807800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:100807200-100807800	Enhancers	Fetal Thymus	thymus
43	chr9:100807200-100808200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr9:100807400-100807600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr9:100807400-100807600	Enhancers	HSMM	muscle
46	chr9:100807400-100807800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr9:100807400-100807800	Flanking Active TSS	HepG2	liver
48	chr9:100807400-100807800	Flanking Active TSS	K562	blood
49	chr9:100807400-100808000	Active TSS	Primary hematopoietic stem cells	blood
50	chr9:100807400-100808000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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