Variant report

Variant	nsv966303
Chromosome Location	chr4:103649229-103653443
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	CBX3	chr4:103652103-103652673	K562	blood:	n/a	n/a
2	CEBPB	chr4:103653017-103653138	IMR90	lung:	n/a	n/a
3	CTCF	chr4:103652520-103652670	GM12864	blood:	n/a	n/a
4	CTCF	chr4:103652379-103652903	HCT-116	colon:	n/a	chr4:103652497-103652506
5	CTCF	chr4:103652440-103652590	GM12873	blood:	n/a	chr4:103652497-103652506
6	CTCF	chr4:103652457-103652528	Pancreas_OC	pancreas:	n/a	chr4:103652497-103652506
7	CTCF	chr4:103652341-103652817	MCF-7	breast:	n/a	chr4:103652497-103652506
8	CTCF	chr4:103652685-103652715	HepG2	liver:	n/a	n/a
9	CTCF	chr4:103652420-103652570	HRPEpiC	eye:	n/a	chr4:103652497-103652506
10	CTCF	chr4:103652420-103652570	GM06990	blood:	n/a	chr4:103652497-103652506
11	CTCF	chr4:103652400-103652550	HEK293	kidney:	n/a	chr4:103652497-103652506
12	CTCF	chr4:103652380-103652530	HMF	breast:	n/a	chr4:103652497-103652506
13	CTCF	chr4:103652380-103652530	HPAF	blood vessel:	n/a	chr4:103652497-103652506
14	CTCF	chr4:103652440-103652590	WERI-Rb-1	eye:	n/a	chr4:103652497-103652506
15	CTCF	chr4:103652460-103652610	AG04450	lung:	n/a	chr4:103652497-103652506
16	CTCF	chr4:103652347-103652664	K562	blood:	n/a	chr4:103652497-103652506
17	CTCF	chr4:103652500-103652650	GM12875	blood:	n/a	n/a
18	CTCF	chr4:103652396-103652586	MCF-7	breast:	n/a	chr4:103652497-103652506
19	CTCF	chr4:103652460-103652610	HRPEpiC	eye:	n/a	chr4:103652497-103652506
20	CTCF	chr4:103652288-103652680	H1-hESC	embryonic stem cell:	n/a	chr4:103652497-103652506
21	CTCF	chr4:103652376-103652621	MCF-7	breast:	n/a	chr4:103652497-103652506
22	CTCF	chr4:103652400-103652550	Hela-S3	cervix:	n/a	chr4:103652497-103652506
23	CTCF	chr4:103652420-103652570	HCT-116	colon:	n/a	chr4:103652497-103652506
24	CTCF	chr4:103652424-103652574	GM12878	blood:	n/a	chr4:103652497-103652506
25	CTCF	chr4:103652340-103652490	GM12878	blood:	n/a	n/a
26	CTCF	chr4:103652400-103652550	HEEpiC	esophagus:	n/a	chr4:103652497-103652506
27	CTCF	chr4:103652264-103652649	A549	lung:	n/a	chr4:103652497-103652506
28	CTCF	chr4:103652392-103652590	MCF-7	breast:	n/a	chr4:103652497-103652506
29	CTCF	chr4:103652400-103652550	K562	blood:	n/a	chr4:103652497-103652506
30	CTCF	chr4:103652400-103652550	NB4	blood:	n/a	chr4:103652497-103652506
31	CTCF	chr4:103652430-103652550	NHEK	skin:	n/a	chr4:103652497-103652506
32	CTCF	chr4:103652381-103652621	IMR90	lung:	n/a	chr4:103652497-103652506
33	CTCF	chr4:103652380-103652530	A549	lung:	n/a	chr4:103652497-103652506
34	CTCF	chr4:103652400-103652550	GM12872	blood:	n/a	chr4:103652497-103652506
35	CTCF	chr4:103652380-103652530	NHEK	skin:	n/a	chr4:103652497-103652506
36	CTCF	chr4:103652440-103652590	BE2_C	brain:	n/a	chr4:103652497-103652506
37	CTCF	chr4:103652374-103652639	K562	blood:	n/a	chr4:103652497-103652506
38	CTCF	chr4:103652580-103652730	HCM	heart:	n/a	n/a
39	CTCF	chr4:103652238-103652779	K562	blood:	n/a	chr4:103652497-103652506
40	CTCF	chr4:103652282-103652595	H1-hESC	embryonic stem cell:	n/a	chr4:103652497-103652506
41	CTCF	chr4:103652433-103652554	Gliobla	brain:	n/a	chr4:103652497-103652506
42	CTCF	chr4:103652340-103652490	BE2_C	brain:	n/a	n/a
43	CTCF	chr4:103652440-103652590	GM12872	blood:	n/a	chr4:103652497-103652506
44	CTCF	chr4:103652380-103652530	SAEC	small airway:	n/a	chr4:103652497-103652506
45	CTCF	chr4:103652440-103652590	GM12868	blood:	n/a	chr4:103652497-103652506
46	CTCF	chr4:103650634-103650692	GM20000	blood:	n/a	n/a
47	CTCF	chr4:103652465-103652521	GM20000	blood:	n/a	chr4:103652497-103652506
48	CTCF	chr4:103652440-103652590	HBMEC	blood vessel:	n/a	chr4:103652497-103652506
49	CTCF	chr4:103652400-103652550	AG04449	skin:	n/a	chr4:103652497-103652506
50	CTCF	chr4:103652440-103652590	HCFaa	heart:	n/a	chr4:103652497-103652506

No.	Distal block	Cell Line	Cell type
1	chr4:103649437..103652154-chr4:103748194..103749901,2	K562	blood:
2	chr4:103650888..103653325-chr4:103747345..103748932,2	MCF-7	breast:
3	chr4:103651533..103654531-chr4:103655303..103657953,2	K562	blood:
4	chr4:103652014..103652594-chr4:103930384..103930973,2	MCF-7	breast:

Variant related genes	Relation type
LRRC37A15P	TF binding region
MANBA	TF binding region
KRT8P46	TF binding region
ENSG00000224207	TF binding region
ENSG00000246560	chromatin interactions
ENSG00000224207	chromatin interactions
ENSG00000109332	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566451071	chr4:103649286-103649287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533778234	chr4:103649290-103649291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566972714	chr4:103649364-103649365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191569206	chr4:103649395-103649396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55775606	chr4:103649499-103649500	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539200801	chr4:103649501-103649502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75552082	chr4:103649524-103649525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575776467	chr4:103649579-103649580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183902900	chr4:103649588-103649589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554806609	chr4:103649596-103649597	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573152209	chr4:103649626-103649627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145595213	chr4:103649656-103649657	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540237024	chr4:103649671-103649672	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571370873	chr4:103649711-103649712	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs56234326	chr4:103649734-103649735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369281933	chr4:103649784-103649785	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373084588	chr4:103649831-103649832	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs576745344	chr4:103649853-103649854	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs116085500	chr4:103649865-103649866	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs75846859	chr4:103649866-103649867	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs529886354	chr4:103649930-103649931	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548226586	chr4:103649942-103649943	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs111676426	chr4:103649949-103649950	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs188116840	chr4:103649955-103649956	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs552217518	chr4:103649957-103649958	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570495749	chr4:103649959-103649960	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs192702112	chr4:103649994-103649995	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565418538	chr4:103649995-103649996	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148454492	chr4:103649997-103649998	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201455604	chr4:103650022-103650023	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536456449	chr4:103650056-103650057	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555003026	chr4:103650096-103650097	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573023812	chr4:103650173-103650174	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374857234	chr4:103650210-103650211	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs114113374	chr4:103650256-103650257	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576857602	chr4:103650257-103650258	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544482810	chr4:103650281-103650282	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538184674	chr4:103650294-103650295	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562646440	chr4:103650299-103650300	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs60623755	chr4:103650302-103650303	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs386677951	chr4:103650330-103650331	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs139819592	chr4:103650332-103650333	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs527365100	chr4:103650444-103650445	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs56102357	chr4:103650503-103650504	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552329400	chr4:103650506-103650507	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564068210	chr4:103650545-103650546	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531375945	chr4:103650559-103650560	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112310387	chr4:103650567-103650568	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs184547275	chr4:103650575-103650576	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs141916480	chr4:103650579-103650580	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	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
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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103547000-103658200	Weak transcription	Small Intestine	intestine
2	chr4:103553000-103651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:103553400-103651400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:103556200-103650400	Weak transcription	Pancreas	Pancrea
5	chr4:103571800-103655800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:103581800-103681000	Weak transcription	Spleen	Spleen
7	chr4:103609600-103664800	Weak transcription	Esophagus	oesophagus
8	chr4:103618400-103655800	Weak transcription	HSMM	muscle
9	chr4:103627000-103650000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:103627400-103649800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:103627400-103650200	Weak transcription	Fetal Stomach	stomach
12	chr4:103627400-103650200	Weak transcription	Gastric	stomach
13	chr4:103627400-103650200	Weak transcription	Thymus	Thymus
14	chr4:103627400-103651000	Weak transcription	Right Ventricle	heart
15	chr4:103627400-103655400	Weak transcription	Lung	lung
16	chr4:103627600-103652400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:103630400-103655800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:103632400-103666200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:103632400-103667600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:103632800-103651000	Weak transcription	Fetal Brain Female	brain
21	chr4:103634000-103650200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:103634000-103650400	Weak transcription	Brain Angular Gyrus	brain
23	chr4:103634400-103655400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:103634600-103650200	Weak transcription	Fetal Intestine Large	intestine
25	chr4:103634600-103653400	Weak transcription	Fetal Lung	lung
26	chr4:103634600-103655400	Weak transcription	NHDF-Ad	bronchial
27	chr4:103634600-103655600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:103634600-103655600	Weak transcription	NHLF	lung
29	chr4:103634800-103655800	Weak transcription	Osteobl	bone
30	chr4:103636000-103652400	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:103636200-103651000	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:103636600-103651000	Weak transcription	Left Ventricle	heart
33	chr4:103637000-103680800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:103637400-103650400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:103638000-103651000	Strong transcription	Primary B cells from cord blood	blood
36	chr4:103638800-103681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:103639000-103651200	Weak transcription	Placenta	Placenta
38	chr4:103639000-103651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:103639000-103656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:103639200-103659400	Weak transcription	Ovary	ovary
41	chr4:103639600-103655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:103641000-103651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:103641000-103671600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:103641200-103651000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:103641200-103651400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:103641200-103651400	Weak transcription	K562	blood
47	chr4:103641200-103652800	Weak transcription	Adipose Nuclei	Adipose
48	chr4:103641200-103653600	Weak transcription	HSMMtube	muscle
49	chr4:103641200-103656200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:103641200-103680800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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