Variant report

Variant	esv3365765
Chromosome Location	chr7:100297874-100300951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:62)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100300649-100300699	HCF	heart:	n/a
2	chr7:100300649-100300699	HCF	heart:	n/a
3	chr7:100300649-100300699	Jurkat	blood:	n/a
4	chr7:100300649-100300699	AG04450	lung:	fetal
5	chr7:100300649-100300699	SK-N-MC	brain:	n/a
6	chr7:100300649-100300699	PFSK-1	brain:	n/a
7	chr7:100300649-100300699	HEEpiC	esophagus:	n/a
8	chr7:100300649-100300699	T-47D	breast:	n/a
9	chr7:100300649-100300699	K562	blood:	n/a
10	chr7:100300649-100300699	U87	brain:	n/a
11	chr7:100300649-100300699	MCF-7	breast:	n/a
12	chr7:100300649-100300699	AG10803	skin:	n/a
13	chr7:100300649-100300699	Hepatocyte	liver:	n/a
14	chr7:100300649-100300699	GM06990	blood:	n/a
15	chr7:100300649-100300699	AG04449	skin:	fetal
16	chr7:100300649-100300699	SAEC	small airway:	n/a
17	chr7:100300649-100300699	HIPEpiC	eye:	n/a
18	chr7:100300649-100300699	AG09309	skin:	n/a
19	chr7:100300649-100300699	GM19239	blood:	n/a
20	chr7:100300649-100300699	GM12878	blood:	n/a
21	chr7:100300649-100300699	HEK293	kidney:	embryo
22	chr7:100300649-100300699	LNCaP	prostate:	n/a
23	chr7:100300649-100300699	HMEC	breast:	n/a
24	chr7:100300649-100300699	NHDF-neo	bronchial:	n/a
25	chr7:100300649-100300699	HRE	kidney:	n/a
26	chr7:100300649-100300699	SK-N-SH	brain:	n/a
27	chr7:100300649-100300699	Hela-S3	cervix:	n/a
28	chr7:100300649-100300699	A549	lung:	n/a
29	chr7:100300649-100300699	HRCEpiC	kidney:	n/a
30	chr7:100300649-100300699	AG09319	gingival:	n/a
31	chr7:100300649-100300699	ECC-1	luminal epithelium:	n/a
32	chr7:100300649-100300699	HUVEC	blood vessel:	n/a
33	chr7:100300649-100300699	SK-N-SH_RA	brain:	n/a
34	chr7:100300649-100300699	HCM	heart:	n/a
35	chr7:100300649-100300699	BE2_C	brain:	n/a
36	chr7:100300649-100300699	ProgFib	skin:	n/a
37	chr7:100300649-100300699	NT2-D1	testis:	n/a
38	chr7:100300649-100300699	AoSMC	blood vessel:	n/a
39	chr7:100300649-100300699	CMK	blood:	n/a
40	chr7:100300649-100300699	HRPEpiC	eye:	n/a
41	chr7:100300649-100300699	NHBE	bronchial:	n/a
42	chr7:100300649-100300699	Caco-2	colon:	n/a
43	chr7:100300649-100300699	IMR90	lung:	fetal
44	chr7:100300649-100300699	HCT-116	colon:	n/a
45	chr7:100300649-100300699	GM12892	blood:	n/a
46	chr7:100300649-100300699	HL-60	blood:	n/a
47	chr7:100300649-100300699	HAEpiC	amniotic membrane:	n/a
48	chr7:100300649-100300699	HepG2	liver:	n/a
49	chr7:100300649-100300699	SKMC	muscle:	n/a
50	chr7:100300649-100300699	MCF10A-Er-Src	breast:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100181449..100183461-chr7:100297044..100298564,2	MCF-7	breast:
2	chr7:100294650..100298309-chr7:100300025..100306417,7	MCF-7	breast:
3	chr7:100283988..100285553-chr7:100296101..100298187,2	K562	blood:
4	chr7:100271194..100273146-chr7:100296981..100298493,2	MCF-7	breast:
5	chr7:100298368..100301478-chr7:100301532..100304006,4	K562	blood:
6	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
7	chr7:100289314..100293442-chr7:100296051..100298941,4	MCF-7	breast:
8	chr7:100299291..100301478-chr7:100467905..100469771,2	K562	blood:
9	chr7:100298456..100301434-chr7:100301532..100304511,4	K562	blood:
10	chr7:100282010..100283911-chr7:100299886..100301403,2	K562	blood:

No data

Variant related genes	Relation type
POP7	CpG island
ENSG00000106336	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000087077	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000146830	chromatin interactions
ENSG00000077454	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557606110	chr7:100297883-100297884	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs368909914	chr7:100297888-100297889	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs221779	chr7:100297898-100297899	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs201376420	chr7:100297900-100297901	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs35722278	chr7:100297932-100297933	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs143307147	chr7:100297933-100297934	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs536476556	chr7:100297945-100297946	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs554821286	chr7:100297976-100297977	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs542854857	chr7:100298012-100298013	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs221778	chr7:100298024-100298025	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs62483569	chr7:100298043-100298044	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs147608855	chr7:100298095-100298096	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs531285183	chr7:100298118-100298119	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs541708561	chr7:100298148-100298149	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs544974602	chr7:100298160-100298161	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs147365153	chr7:100298163-100298164	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs73170773	chr7:100298164-100298165	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs117342623	chr7:100298166-100298167	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs397935980	chr7:100298174-100298175	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs79638165	chr7:100298331-100298332	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs574678616	chr7:100298339-100298340	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541983917	chr7:100298353-100298354	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs77523519	chr7:100298362-100298363	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530865763	chr7:100298371-100298372	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs545990663	chr7:100298395-100298396	Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs73409046	chr7:100298445-100298446	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528521498	chr7:100298447-100298448	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs221777	chr7:100298487-100298488	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs374685262	chr7:100298490-100298491	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs221776	chr7:100298495-100298496	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs144683713	chr7:100298514-100298515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs566012226	chr7:100298524-100298525	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370274890	chr7:100298532-100298533	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs377067913	chr7:100298534-100298535	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs372352996	chr7:100298540-100298541	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs199838185	chr7:100298544-100298545	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs199543367	chr7:100298545-100298546	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs548360552	chr7:100298556-100298557	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs113257997	chr7:100298576-100298577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs221775	chr7:100298626-100298627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145765728	chr7:100298644-100298645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537134438	chr7:100298661-100298662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552034108	chr7:100298691-100298692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148916078	chr7:100298697-100298698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188850464	chr7:100298731-100298732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552947043	chr7:100298735-100298736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143655571	chr7:100298742-100298743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11769012	chr7:100298743-100298744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs181949171	chr7:100298769-100298770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186117448	chr7:100298791-100298792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100292400-100303000	Weak transcription	Right Atrium	heart
2	chr7:100292600-100302800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:100292800-100303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:100293400-100302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:100293800-100301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:100293800-100302800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:100295000-100302400	Weak transcription	GM12878-XiMat	blood
8	chr7:100297400-100302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100298200-100298400	Bivalent Enhancer	K562	blood
10	chr7:100298400-100299000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:100299000-100302800	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links