Variant report

Variant	esv3371575
Chromosome Location	chr10:118202412-118204360
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	CTCF	chr10:118203560-118203710	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr10:118204140-118204290	GM12865	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
3	CTCF	chr10:118204140-118204290	HPF	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
4	CTCF	chr10:118203907-118203994	GM10248	blood:	n/a	n/a
5	CTCF	chr10:118204140-118204290	GM12870	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
6	CTCF	chr10:118203600-118203750	BJ	skin:	n/a	n/a
7	CTCF	chr10:118204160-118204310	HPF	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
8	CTCF	chr10:118204160-118204310	GM12871	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
9	CTCF	chr10:118203878-118204550	SK-N-SH	brain:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
10	CTCF	chr10:118204141-118204351	GM19240	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
11	CTCF	chr10:118204140-118204290	NHDF-neo	bronchial:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
12	CTCF	chr10:118204080-118204317	SK-N-SH_RA	brain:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
13	CTCF	chr10:118204096-118204350	K562	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
14	CTCF	chr10:118204160-118204310	GM12873	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
15	CTCF	chr10:118204095-118204350	Pancreas_OC	pancreas:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
16	CTCF	chr10:118204040-118204493	K562	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
17	CTCF	chr10:118204160-118204310	HMF	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
18	CTCF	chr10:118204160-118204310	AG04450	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
19	CTCF	chr10:118204180-118204330	BJ	skin:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
20	CTCF	chr10:118204077-118204370	HUVEC	blood vessel:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
21	CTCF	chr10:118204090-118204369	K562	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
22	CTCF	chr10:118204080-118204230	K562	blood:	n/a	chr10:118204220-118204227
23	CTCF	chr10:118204160-118204310	HMEC	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
24	CTCF	chr10:118204160-118204310	GM12864	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
25	CTCF	chr10:118204120-118204270	GM12867	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
26	CTCF	chr10:118204080-118204230	HFF	foreskin:	n/a	chr10:118204220-118204227
27	CTCF	chr10:118204180-118204330	Caco-2	colon:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
28	CTCF	chr10:118204140-118204290	HCFaa	heart:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
29	CTCF	chr10:118204160-118204310	GM12870	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
30	CTCF	chr10:118204158-118204341	MCF-7	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
31	CTCF	chr10:118204140-118204290	SK-N-SH_RA	brain:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
32	CTCF	chr10:118204160-118204310	MCF-7	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
33	CTCF	chr10:118204058-118204404	T-47D	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
34	CTCF	chr10:118204160-118204310	AoAF	blood vessel:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
35	CTCF	chr10:118204140-118204290	GM12872	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
36	CTCF	chr10:118204160-118204310	AG09319	gingival:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
37	CTCF	chr10:118204141-118204365	GM19238	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
38	CTCF	chr10:118204160-118204310	NHEK	skin:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
39	CTCF	chr10:118204160-118204310	AG09309	skin:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
40	CTCF	chr10:118204048-118204402	K562	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
41	CTCF	chr10:118204160-118204310	HEEpiC	esophagus:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
42	CTCF	chr10:118204109-118204340	GM10266	blood:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
43	CTCF	chr10:118204140-118204290	SAEC	small airway:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
44	CTCF	chr10:118204136-118204371	A549	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
45	CTCF	chr10:118204180-118204330	WI-38	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
46	CTCF	chr10:118204160-118204310	A549	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
47	CTCF	chr10:118204057-118204357	H1-hESC	embryonic stem cell:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
48	CTCF	chr10:118204084-118204435	MCF-7	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
49	CTCF	chr10:118204085-118204325	T-47D	breast:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233
50	CTCF	chr10:118204065-118204451	A549	lung:	n/a	chr10:118204218-118204239 chr10:118204219-118204232 chr10:118204216-118204234 chr10:118204220-118204227 chr10:118204217-118204233

No.	Distal block	Cell Line	Cell type
1	chr10:118204160..118204667-chr10:118249377..118250153,2	K562	blood:
2	chr10:118203981..118204843-chr10:118356764..118357296,2	MCF-7	breast:
3	chr10:118203849..118204351-chr10:118355767..118356380,2	MCF-7	breast:

Variant related genes	Relation type
HMGB3P8	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112753992	chr10:118202416-118202417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530680732	chr10:118202443-118202444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538717178	chr10:118202485-118202486	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375599999	chr10:118202529-118202530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373852386	chr10:118202577-118202578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147682763	chr10:118202580-118202581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142343377	chr10:118202597-118202598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146313286	chr10:118202617-118202618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369740447	chr10:118202626-118202627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570400848	chr10:118202631-118202632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199613800	chr10:118202679-118202680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190846374	chr10:118202719-118202720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201551337	chr10:118202724-118202725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535978498	chr10:118202747-118202748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7896568	chr10:118202761-118202762	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575920639	chr10:118202795-118202796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535562132	chr10:118202807-118202808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558488104	chr10:118202808-118202809	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182129680	chr10:118202875-118202876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545769204	chr10:118202972-118202973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75072598	chr10:118203000-118203001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112348492	chr10:118203005-118203006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572557592	chr10:118203027-118203028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541539707	chr10:118203056-118203057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187186137	chr10:118203086-118203087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191774469	chr10:118203098-118203099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368980003	chr10:118203130-118203131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148703005	chr10:118203135-118203136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201595033	chr10:118203140-118203141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201511265	chr10:118203141-118203142	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199814938	chr10:118203142-118203143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376699528	chr10:118203152-118203153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201872821	chr10:118203164-118203165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369738799	chr10:118203166-118203167	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151141897	chr10:118203220-118203221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369976900	chr10:118203258-118203259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113052424	chr10:118203273-118203274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200530794	chr10:118203275-118203276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201265696	chr10:118203276-118203277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113326866	chr10:118203277-118203278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566769610	chr10:118203283-118203284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535913551	chr10:118203287-118203288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193283188	chr10:118203299-118203300	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2033396	chr10:118203307-118203308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6144112	chr10:118203310-118203311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374493311	chr10:118203311-118203312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202041955	chr10:118203312-118203313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112154188	chr10:118203314-118203315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185649510	chr10:118203371-118203372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572033370	chr10:118203377-118203378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118191600-118216200	Weak transcription	Pancreas	Pancrea
2	chr10:118201400-118202600	Weak transcription	NHEK	skin
3	chr10:118201400-118203600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:118202000-118207000	Strong transcription	HMEC	breast
5	chr10:118202000-118225400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:118202200-118224000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:118202600-118212600	Strong transcription	NHEK	skin
8	chr10:118203600-118207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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