Variant report

Variant	esv1830221
Chromosome Location	chr7:100330091-100337672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100334240-100334390	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:100336911-100337230	HepG2	liver:	n/a	n/a
3	FOXA2	chr7:100336974-100337182	HepG2	liver:	n/a	n/a
4	HNF4A	chr7:100334443-100334631	HepG2	liver:	n/a	n/a
5	PAX5	chr7:100329892-100330334	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:100331776-100331843	K562	blood:	n/a	n/a
7	POLR2A	chr7:100334700-100334719	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:100335245-100335321	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:100334504-100334656	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:100334514-100334693	HepG2	liver:	n/a	n/a
11	RCOR1	chr7:100337656-100337833	HepG2	liver:	n/a	n/a
12	TEAD4	chr7:100337476-100337883	HepG2	liver:	n/a	n/a
13	ZNF384	chr7:100330766-100330914	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100330872-100330922	HCM	heart:	n/a
2	chr7:100330109-100330159	PANC-1	pancreas:	n/a
3	chr7:100330109-100330159	LNCaP	prostate:	n/a
4	chr7:100330109-100330159	ovcar-3	ovarian:	n/a
5	chr7:100330109-100330159	GM12878	blood:	n/a
6	chr7:100330109-100330159	GM19239	blood:	n/a
7	chr7:100330587-100330637	HL-60	blood:	n/a
8	chr7:100330587-100330637	ECC-1	luminal epithelium:	n/a
9	chr7:100330587-100330637	GM12891	blood:	n/a
10	chr7:100330109-100330159	HRE	kidney:	n/a
11	chr7:100330587-100330637	HMEC	breast:	n/a
12	chr7:100330109-100330159	Caco-2	colon:	n/a
13	chr7:100330587-100330637	HRCEpiC	kidney:	n/a
14	chr7:100330872-100330922	Hepatocyte	liver:	n/a
15	chr7:100330872-100330922	Jurkat	blood:	n/a
16	chr7:100330109-100330159	HCPEpiC	choroid plexus:	n/a
17	chr7:100330587-100330637	Hela-S3	cervix:	n/a
18	chr7:100330587-100330637	Hepatocyte	liver:	n/a
19	chr7:100330587-100330637	AoSMC	blood vessel:	n/a
20	chr7:100330872-100330922	MCF10A-Er-Src	breast:	n/a
21	chr7:100330109-100330159	PFSK-1	brain:	n/a
22	chr7:100330872-100330922	AG04449	skin:	fetal
23	chr7:100330587-100330637	Jurkat	blood:	n/a
24	chr7:100330109-100330159	RPTEC	kidney:	n/a
25	chr7:100330587-100330637	GM06990	blood:	n/a
26	chr7:100330872-100330922	PANC-1	pancreas:	n/a
27	chr7:100330109-100330159	HUVEC	blood vessel:	n/a
28	chr7:100330587-100330637	HepG2	liver:	n/a
29	chr7:100330587-100330637	GM12892	blood:	n/a
30	chr7:100330109-100330159	AG09319	gingival:	n/a
31	chr7:100330587-100330637	HUVEC	blood vessel:	n/a
32	chr7:100330872-100330922	HCPEpiC	choroid plexus:	n/a
33	chr7:100330872-100330922	H1-hESC	embryonic stem cell:	embryo
34	chr7:100330587-100330637	SK-N-SH	brain:	n/a
35	chr7:100330109-100330159	HCM	heart:	n/a
36	chr7:100330109-100330159	HepG2	liver:	n/a
37	chr7:100330587-100330637	ProgFib	skin:	n/a
38	chr7:100330587-100330637	SK-N-SH_RA	brain:	n/a
39	chr7:100330872-100330922	LNCaP	prostate:	n/a
40	chr7:100330109-100330159	T-47D	breast:	n/a
41	chr7:100330872-100330922	HMEC	breast:	n/a
42	chr7:100330872-100330922	HCT-116	colon:	n/a
43	chr7:100330872-100330922	SAEC	small airway:	n/a
44	chr7:100330587-100330637	HNPCEpiC	eye:	n/a
45	chr7:100330587-100330637	HRPEpiC	eye:	n/a
46	chr7:100330587-100330637	NB4	blood:	n/a
47	chr7:100330109-100330159	GM12891	blood:	n/a
48	chr7:100330587-100330637	AG10803	skin:	n/a
49	chr7:100330872-100330922	HUVEC	blood vessel:	n/a
50	chr7:100330587-100330637	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:

No data

Variant related genes	Relation type
ZAN	TF binding region
ZAN	CpG island

Extended variants
information (count: 296 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2406256	chr7:100330091-100330092	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572205854	chr7:100330111-100330112	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs75714327	chr7:100330142-100330143	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs111796318	chr7:100330298-100330299	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187192107	chr7:100330324-100330325	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs55867001	chr7:100330325-100330326	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191648750	chr7:100330483-100330484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111338114	chr7:100330492-100330493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562758934	chr7:100330519-100330520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374394343	chr7:100330586-100330587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184464349	chr7:100330626-100330627	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs541066375	chr7:100330648-100330649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564737635	chr7:100330667-100330668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545218672	chr7:100330679-100330680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559074751	chr7:100330680-100330681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530900640	chr7:100330841-100330842	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144843407	chr7:100330842-100330843	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs527363136	chr7:100330866-100330867	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188566621	chr7:100330889-100330890	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs375845408	chr7:100330890-100330891	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs560987370	chr7:100330892-100330893	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs531290631	chr7:100330916-100330917	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs549518838	chr7:100330957-100330958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571898920	chr7:100331024-100331025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539012298	chr7:100331051-100331052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554897471	chr7:100331052-100331053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565967373	chr7:100331093-100331094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536465048	chr7:100331103-100331104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76932668	chr7:100331201-100331202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73711150	chr7:100331276-100331277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193119630	chr7:100331284-100331285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537413645	chr7:100331299-100331300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185539630	chr7:100331302-100331303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573313239	chr7:100331430-100331431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117726678	chr7:100331456-100331457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545354109	chr7:100331492-100331493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145136492	chr7:100331499-100331500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572240051	chr7:100331559-100331560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs36081558	chr7:100331573-100331574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370510188	chr7:100331585-100331586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560998133	chr7:100331586-100331587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5886131	chr7:100331683-100331684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374203981	chr7:100331718-100331719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531345395	chr7:100331765-100331766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543402314	chr7:100331766-100331767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564756369	chr7:100331794-100331795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377089635	chr7:100331814-100331815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12673246	chr7:100331837-100331838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35738907	chr7:100331841-100331842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373557646	chr7:100331867-100331868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Acute lymphoblastic leukemia	21339820	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
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100323800-100334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100325400-100333000	Weak transcription	Liver	Liver
4	chr7:100329200-100334400	Enhancers	HepG2	liver
5	chr7:100329600-100331000	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:100329600-100331200	Enhancers	Primary B cells from cord blood	blood
7	chr7:100329800-100330600	Enhancers	GM12878-XiMat	blood
8	chr7:100331400-100331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100331400-100331800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:100331400-100332000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:100331600-100332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:100333000-100334200	Enhancers	Liver	Liver
13	chr7:100334200-100334400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:100334200-100334800	Enhancers	Fetal Intestine Large	intestine
15	chr7:100334400-100334600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:100334400-100334800	Flanking Active TSS	HepG2	liver
17	chr7:100334400-100335000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:100334800-100335000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:100334800-100335000	Active TSS	HepG2	liver
20	chr7:100335000-100336000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:100335000-100336000	Weak transcription	HepG2	liver
22	chr7:100336000-100337400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:100336000-100337600	Enhancers	HepG2	liver
24	chr7:100337400-100337800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:100337600-100338000	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links