Variant report

Variant	nsv1018158
Chromosome Location	chr7:102316707-102358392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:648)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:102339769-102340073	K562	blood:	n/a	n/a
2	ATF1	chr7:102339824-102340183	K562	blood:	n/a	n/a
3	ATF2	chr7:102353714-102354151	GM12878	blood:	n/a	n/a
4	ATF2	chr7:102353660-102354116	GM12878	blood:	n/a	n/a
5	BATF	chr7:102352581-102352892	GM12878	blood:	n/a	n/a
6	BATF	chr7:102329824-102330101	GM12878	blood:	n/a	n/a
7	BATF	chr7:102353721-102354553	GM12878	blood:	n/a	n/a
8	BATF	chr7:102355536-102355847	GM12878	blood:	n/a	n/a
9	BATF	chr7:102352630-102352884	GM12878	blood:	n/a	n/a
10	BATF	chr7:102355431-102355796	GM12878	blood:	n/a	n/a
11	BATF	chr7:102353557-102354555	GM12878	blood:	n/a	n/a
12	BATF	chr7:102356182-102356563	GM12878	blood:	n/a	n/a
13	BATF	chr7:102356109-102356632	GM12878	blood:	n/a	n/a
14	BATF	chr7:102330287-102330744	GM12878	blood:	n/a	n/a
15	BCL11A	chr7:102352667-102352857	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:102356208-102356576	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:102354099-102354536	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:102356071-102356558	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:102352587-102352904	GM12878	blood:	n/a	n/a
20	BCL11A	chr7:102353677-102354018	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:102355571-102355806	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:102353630-102354526	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:102329710-102330007	GM12878	blood:	n/a	chr7:102329758-102329771
24	BCL11A	chr7:102330097-102330855	GM12878	blood:	n/a	chr7:102330751-102330764
25	BCL11A	chr7:102329229-102329596	GM12878	blood:	n/a	n/a
26	BCL11A	chr7:102330382-102330951	GM12878	blood:	n/a	chr7:102330751-102330764
27	BCLAF1	chr7:102353659-102353980	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:102339926-102339993	K562	blood:	n/a	n/a
29	BHLHE40	chr7:102328923-102329144	HepG2	liver:	n/a	n/a
30	BHLHE40	chr7:102353720-102354070	GM12878	blood:	n/a	n/a
31	BRCA1	chr7:102353881-102353973	GM12878	blood:	n/a	n/a
32	CBX3	chr7:102322619-102323433	K562	blood:	n/a	n/a
33	CBX3	chr7:102328699-102329550	K562	blood:	n/a	chr7:102329087-102329098
34	CEBPB	chr7:102345381-102345583	K562	blood:	n/a	chr7:102345439-102345450
35	CEBPB	chr7:102345380-102345559	HepG2	liver:	n/a	chr7:102345439-102345450
36	CEBPB	chr7:102340068-102340120	K562	blood:	n/a	n/a
37	CEBPB	chr7:102354076-102354375	GM12878	blood:	n/a	n/a
38	CEBPB	chr7:102338438-102338756	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr7:102328777-102329132	K562	blood:	n/a	n/a
40	CEBPB	chr7:102353550-102354592	GM12878	blood:	n/a	n/a
41	CEBPB	chr7:102322726-102323145	K562	blood:	n/a	n/a
42	CEBPB	chr7:102322670-102323249	K562	blood:	n/a	n/a
43	CEBPB	chr7:102339596-102339720	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr7:102345374-102345562	IMR90	lung:	n/a	chr7:102345439-102345450
45	CEBPB	chr7:102355395-102355432	IMR90	lung:	n/a	n/a
46	CEBPB	chr7:102345372-102345572	A549	lung:	n/a	chr7:102345439-102345450
47	CEBPD	chr7:102339741-102340233	K562	blood:	n/a	n/a
48	CEBPD	chr7:102328719-102329320	K562	blood:	n/a	n/a
49	CEBPD	chr7:102322800-102323305	K562	blood:	n/a	n/a
50	CHD2	chr7:102353773-102354071	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102329146-102329196	AG09319	gingival:	n/a
2	chr7:102332458-102332508	Caco-2	colon:	n/a
3	chr7:102332458-102332508	AG09309	skin:	n/a
4	chr7:102327236-102327286	HMEC	breast:	n/a
5	chr7:102329146-102329196	AG04450	lung:	fetal
6	chr7:102330635-102330685	HCF	heart:	n/a
7	chr7:102329146-102329196	RPTEC	kidney:	n/a
8	chr7:102329146-102329196	HEEpiC	esophagus:	n/a
9	chr7:102332458-102332508	PFSK-1	brain:	n/a
10	chr7:102329146-102329196	HL-60	blood:	n/a
11	chr7:102332458-102332508	ECC-1	luminal epithelium:	n/a
12	chr7:102330635-102330685	SAEC	small airway:	n/a
13	chr7:102332458-102332508	HNPCEpiC	eye:	n/a
14	chr7:102332458-102332508	BJ	skin:	n/a
15	chr7:102329146-102329196	T-47D	breast:	n/a
16	chr7:102329146-102329196	HRPEpiC	eye:	n/a
17	chr7:102329146-102329196	GM06990	blood:	n/a
18	chr7:102330635-102330685	HRE	kidney:	n/a
19	chr7:102330635-102330685	HEEpiC	esophagus:	n/a
20	chr7:102330635-102330685	AG09309	skin:	n/a
21	chr7:102327236-102327286	HIPEpiC	eye:	n/a
22	chr7:102330635-102330685	GM06990	blood:	n/a
23	chr7:102327236-102327286	AG10803	skin:	n/a
24	chr7:102327236-102327286	HUVEC	blood vessel:	n/a
25	chr7:102327236-102327286	AG04450	lung:	fetal
26	chr7:102332458-102332508	SAEC	small airway:	n/a
27	chr7:102332458-102332508	HEK293	kidney:	embryo
28	chr7:102330635-102330685	HRCEpiC	kidney:	n/a
29	chr7:102329146-102329196	Caco-2	colon:	n/a
30	chr7:102327236-102327286	ovcar-3	ovarian:	n/a
31	chr7:102332458-102332508	CMK	blood:	n/a
32	chr7:102330635-102330685	ECC-1	luminal epithelium:	n/a
33	chr7:102329146-102329196	ECC-1	luminal epithelium:	n/a
34	chr7:102330635-102330685	NH-A	brain:	n/a
35	chr7:102329146-102329196	GM19239	blood:	n/a
36	chr7:102329146-102329196	AG09309	skin:	n/a
37	chr7:102330635-102330685	ProgFib	skin:	n/a
38	chr7:102327236-102327286	HCF	heart:	n/a
39	chr7:102329146-102329196	Hepatocyte	liver:	n/a
40	chr7:102332458-102332508	SK-N-MC	brain:	n/a
41	chr7:102332458-102332508	HL-60	blood:	n/a
42	chr7:102327236-102327286	ProgFib	skin:	n/a
43	chr7:102330635-102330685	HEK293	kidney:	embryo
44	chr7:102327236-102327286	GM12891	blood:	n/a
45	chr7:102330635-102330685	GM19239	blood:	n/a
46	chr7:102329146-102329196	HCPEpiC	choroid plexus:	n/a
47	chr7:102330635-102330685	Hepatocyte	liver:	n/a
48	chr7:102327236-102327286	Jurkat	blood:	n/a
49	chr7:102332458-102332508	Hela-S3	cervix:	n/a
50	chr7:102330635-102330685	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000228049	TF binding region
POLR2J2	TF binding region
RASA4DP	TF binding region
ENSG00000228049	CpG island
POLR2J2	CpG island
RASA4DP	CpG island

Extended variants
information (count: 620 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375525369	chr7:102316729-102316730	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs145615827	chr7:102316764-102316765	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs553398194	chr7:102316793-102316794	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs543821675	chr7:102316800-102316801	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs567494194	chr7:102316983-102316984	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs370991552	chr7:102316984-102316985	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs369389017	chr7:102316994-102316995	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs368399459	chr7:102316999-102317000	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs386716325	chr7:102317107-102317108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577436202	chr7:102317108-102317109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113570465	chr7:102317302-102317303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541266574	chr7:102317476-102317477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373724332	chr7:102317599-102317600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367833097	chr7:102317600-102317601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183986714	chr7:102317648-102317649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376802421	chr7:102317671-102317672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368583794	chr7:102317700-102317701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530219355	chr7:102317889-102317890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371964118	chr7:102317909-102317910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541573991	chr7:102317965-102317966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112018188	chr7:102318005-102318006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111574726	chr7:102318037-102318038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369234590	chr7:102318193-102318194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201730959	chr7:102318247-102318248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563024998	chr7:102318294-102318295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200225484	chr7:102318617-102318618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374600902	chr7:102318618-102318619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58366641	chr7:102318620-102318621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375225870	chr7:102318703-102318704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369300659	chr7:102318860-102318861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374405684	chr7:102318861-102318862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530459357	chr7:102318883-102318884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551723160	chr7:102318977-102318978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138714346	chr7:102319015-102319016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570678429	chr7:102319044-102319045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368279784	chr7:102319079-102319080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200742135	chr7:102319449-102319450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372398019	chr7:102319891-102319892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201777298	chr7:102319920-102319921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369160150	chr7:102319921-102319922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371177419	chr7:102320101-102320102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368461670	chr7:102320148-102320149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113657761	chr7:102320367-102320368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536539407	chr7:102320430-102320431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77639312	chr7:102322146-102322147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71275688	chr7:102322396-102322397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112125470	chr7:102322513-102322514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57319988	chr7:102323373-102323374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199674495	chr7:102323427-102323428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57633397	chr7:102323555-102323556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102312200-102325800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:102320400-102327600	Weak transcription	Fetal Stomach	stomach
3	chr7:102329600-102329800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:102329800-102330000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:102329800-102330200	Enhancers	Primary B cells from cord blood	blood
6	chr7:102329800-102330200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:102329800-102330400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:102329800-102330400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:102329800-102330400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:102329800-102330400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr7:102329800-102330400	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:102329800-102330400	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr7:102329800-102330400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr7:102329800-102330400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr7:102329800-102330400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:102329800-102330400	Active TSS	Duodenum Mucosa	Duodenum
17	chr7:102329800-102330400	Active TSS	Thymus	Thymus
18	chr7:102329800-102330800	Active TSS	Brain Germinal Matrix	brain
19	chr7:102330000-102330200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:102330000-102330400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:102330000-102330400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr7:102330000-102330400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:102330000-102330400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:102330000-102330400	Active TSS	Colonic Mucosa	Colon
25	chr7:102330000-102330400	Active TSS	Fetal Thymus	thymus
26	chr7:102330000-102330400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:102330200-102330400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:102330200-102330400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:102330200-102330400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:102330200-102330400	Enhancers	HUVEC	blood vessel
31	chr7:102330400-102335200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:102335200-102336400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:102335200-102336400	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:102335200-102336400	Enhancers	GM12878-XiMat	blood
35	chr7:102336000-102336400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:102336800-102337400	Enhancers	K562	blood
37	chr7:102337400-102339400	Weak transcription	K562	blood
38	chr7:102338200-102339600	Enhancers	Hela-S3	cervix
39	chr7:102338600-102339800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:102339400-102339600	Enhancers	K562	blood
41	chr7:102339600-102339800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:102339600-102340000	Flanking Active TSS	Hela-S3	cervix
43	chr7:102339600-102340400	Flanking Active TSS	K562	blood
44	chr7:102339800-102340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:102340000-102340200	Enhancers	Hela-S3	cervix
46	chr7:102340400-102341600	Enhancers	K562	blood
47	chr7:102351800-102352800	Enhancers	GM12878-XiMat	blood
48	chr7:102352800-102353200	Weak transcription	GM12878-XiMat	blood
49	chr7:102353200-102353400	Enhancers	GM12878-XiMat	blood
50	chr7:102353400-102353600	Enhancers	Monocytes-CD14+_RO01746	blood

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