Variant report

Variant	esv1818389
Chromosome Location	chr10:96620304-96675513
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	ARID3A	chr10:96662316-96662867	HepG2	liver:	n/a	n/a
2	ATF3	chr10:96662325-96662813	A549	lung:	n/a	n/a
3	BCL3	chr10:96662227-96662843	A549	lung:	n/a	n/a
4	BCL3	chr10:96662368-96662780	A549	lung:	n/a	n/a
5	CEBPB	chr10:96662301-96662799	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
6	CEBPB	chr10:96662366-96662879	MCF-7	breast:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
7	CEBPB	chr10:96662333-96662805	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
8	CEBPB	chr10:96662475-96662675	IMR90	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
9	CEBPB	chr10:96664707-96664914	HepG2	liver:	n/a	chr10:96664829-96664840
10	CEBPB	chr10:96662318-96662764	A549	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
11	CEBPB	chr10:96662320-96662841	A549	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
12	CEBPB	chr10:96662349-96662739	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
13	CEBPB	chr10:96662344-96662777	Hela-S3	cervix:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
14	CEBPB	chr10:96662174-96662987	A549	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
15	CEBPB	chr10:96662376-96662710	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
16	CEBPB	chr10:96662406-96662733	MCF-7	breast:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
17	CEBPD	chr10:96662356-96662705	HepG2	liver:	n/a	n/a
18	CTCF	chr10:96650460-96650610	Caco-2	colon:	n/a	n/a
19	CTCF	chr10:96650440-96650590	HCT-116	colon:	n/a	n/a
20	CTCF	chr10:96672163-96672212	LNCaP	prostate:	n/a	n/a
21	CTCF	chr10:96650487-96650634	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:96639640-96639790	RPTEC	kidney:	n/a	n/a
23	CTCF	chr10:96650588-96650640	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr10:96650480-96650630	RPTEC	kidney:	n/a	n/a
25	CTCF	chr10:96650400-96650550	A549	lung:	n/a	n/a
26	CTCF	chr10:96650440-96650590	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:96650440-96650590	Caco-2	colon:	n/a	n/a
28	CTCF	chr10:96650520-96650670	HEK293	kidney:	n/a	n/a
29	CTCF	chr10:96639640-96639790	GM12864	blood:	n/a	n/a
30	CTCF	chr10:96639720-96639870	GM12872	blood:	n/a	n/a
31	CTCF	chr10:96639691-96639881	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr10:96650415-96650676	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr10:96650523-96650622	GM12878	blood:	n/a	n/a
34	CTCF	chr10:96639700-96639850	RPTEC	kidney:	n/a	n/a
35	CTCF	chr10:96621754-96621802	LNCaP	prostate:	n/a	n/a
36	CTCF	chr10:96650440-96650590	NHEK	skin:	n/a	n/a
37	CTCF	chr10:96650537-96650610	MCF-7	breast:	n/a	n/a
38	CTCF	chr10:96650518-96650626	A549	lung:	n/a	n/a
39	CTCF	chr10:96673704-96673769	GM13976	blood:	n/a	n/a
40	CTCF	chr10:96639813-96639932	K562	blood:	n/a	n/a
41	CTCF	chr10:96666320-96666470	A549	lung:	n/a	n/a
42	CTCF	chr10:96626963-96627063	LNCaP	prostate:	n/a	n/a
43	CTCF	chr10:96639680-96639830	HepG2	liver:	n/a	n/a
44	CTCF	chr10:96650400-96650550	RPTEC	kidney:	n/a	n/a
45	CTCF	chr10:96660839-96660858	ProgFib	skin:	n/a	n/a
46	CTCF	chr10:96650480-96650630	HepG2	liver:	n/a	n/a
47	CTCF	chr10:96650517-96650640	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr10:96650560-96650591	MCF-7	breast:	n/a	n/a
49	CTCF	chr10:96639300-96639450	RPTEC	kidney:	n/a	n/a
50	E2F4	chr10:96662424-96662712	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96644256..96646461-chr10:96648799..96651515,2	K562	blood:
2	chr10:96644256..96646461-chr10:96648799..96651515,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP2C8-4	chr10:96625609-96625760	NONHSAT015740
2	lnc-CYP2C19-1	chr10:96642311-96643100	NONHSAT015741
3	lnc-CYP2C8-4	chr10:96632715-96632886	NONHSAT015740
4	lnc-CYP2C8-4	chr10:96625946-96626096	NONHSAT015740

Variant related genes	Relation type
CYP2C58P	TF binding region
ENSG00000225354	TF binding region

Extended variants
information (count: 2368 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2368 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75182741	chr10:96620304-96620305	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs115524392	chr10:96620326-96620327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527865032	chr10:96620331-96620332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115969241	chr10:96620334-96620335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192864254	chr10:96620349-96620350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530469854	chr10:96620444-96620445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575374380	chr10:96620498-96620499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115650394	chr10:96620511-96620512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1322180	chr10:96620554-96620555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538714922	chr10:96620555-96620556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185829954	chr10:96620578-96620579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117183713	chr10:96620581-96620582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565867013	chr10:96620603-96620604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534496484	chr10:96620613-96620614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560974301	chr10:96620620-96620621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35628089	chr10:96620621-96620622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397771492	chr10:96620629-96620630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530314010	chr10:96620703-96620704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574641577	chr10:96620713-96620714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79553581	chr10:96620722-96620723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78936321	chr10:96620723-96620724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543163529	chr10:96620753-96620754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537355471	chr10:96620758-96620759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540886268	chr10:96620769-96620770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556644977	chr10:96620797-96620798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190260603	chr10:96620802-96620803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115161688	chr10:96620852-96620853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566118115	chr10:96620867-96620868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180996746	chr10:96620886-96620887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149505096	chr10:96620890-96620891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373095676	chr10:96620912-96620913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144089447	chr10:96620952-96620953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532690449	chr10:96620956-96620957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113662743	chr10:96620984-96620985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530287261	chr10:96620996-96620997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552503023	chr10:96621013-96621014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113014460	chr10:96621050-96621051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12569735	chr10:96621103-96621104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs142851183	chr10:96621147-96621148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565829648	chr10:96621155-96621156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147432215	chr10:96621162-96621163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185129188	chr10:96621165-96621166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533577335	chr10:96621188-96621189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116836893	chr10:96621198-96621199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536917586	chr10:96621199-96621200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1853210	chr10:96621206-96621207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77812666	chr10:96621258-96621259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77184849	chr10:96621299-96621300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539430998	chr10:96621302-96621303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553048471	chr10:96621318-96621319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96602800-96639400	Weak transcription	Gastric	stomach
2	chr10:96618400-96621000	Weak transcription	Liver	Liver
3	chr10:96619200-96652200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:96619400-96622600	Weak transcription	Fetal Intestine Large	intestine
5	chr10:96619400-96638800	Weak transcription	Fetal Intestine Small	intestine
6	chr10:96622600-96623000	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr10:96623000-96649600	Weak transcription	Fetal Intestine Large	intestine
8	chr10:96625600-96626000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr10:96636200-96638600	Weak transcription	Liver	Liver
10	chr10:96638600-96638800	Active TSS	Liver	Liver
11	chr10:96638800-96639000	Flanking Active TSS	Liver	Liver
12	chr10:96638800-96639200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:96638800-96639800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr10:96639000-96641800	Weak transcription	Liver	Liver
15	chr10:96639400-96639800	ZNF genes & repeats	Gastric	stomach
16	chr10:96639600-96640400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:96639800-96644000	Weak transcription	Gastric	stomach
18	chr10:96639800-96649600	Weak transcription	Fetal Intestine Small	intestine
19	chr10:96640400-96642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:96641600-96661800	Weak transcription	Stomach Mucosa	stomach
21	chr10:96641800-96642800	Strong transcription	Liver	Liver
22	chr10:96642400-96642800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:96642800-96650400	Weak transcription	Liver	Liver
24	chr10:96649600-96650800	Strong transcription	Fetal Intestine Large	intestine
25	chr10:96649600-96651000	Strong transcription	Fetal Intestine Small	intestine
26	chr10:96650400-96650800	Enhancers	Liver	Liver
27	chr10:96650800-96651000	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr10:96651000-96652000	Weak transcription	Fetal Intestine Small	intestine
29	chr10:96651000-96652200	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96652000-96653000	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr10:96652200-96652600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr10:96652200-96652600	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr10:96658000-96658800	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr10:96660600-96662000	Enhancers	Liver	Liver
35	chr10:96661400-96662200	Enhancers	Fetal Intestine Large	intestine
36	chr10:96661600-96662200	Enhancers	Fetal Intestine Small	intestine
37	chr10:96661800-96662000	Enhancers	HepG2	liver
38	chr10:96661800-96662200	Enhancers	A549	lung
39	chr10:96661800-96663200	Enhancers	Stomach Mucosa	stomach
40	chr10:96661800-96665000	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:96662000-96662400	Flanking Active TSS	Liver	Liver
42	chr10:96662000-96662400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:96662000-96662800	Flanking Active TSS	HepG2	liver
44	chr10:96662200-96663000	Weak transcription	Fetal Intestine Small	intestine
45	chr10:96662200-96663000	Flanking Active TSS	A549	lung
46	chr10:96662200-96664000	Weak transcription	Fetal Intestine Large	intestine
47	chr10:96662400-96662800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr10:96662400-96665400	Enhancers	Liver	Liver
49	chr10:96662800-96663000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:96662800-96665200	Enhancers	HepG2	liver

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