Variant report

Variant	esv3401578
Chromosome Location	chr7:103020116-103023514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:103014686..103018560-chr7:103018834..103021905,4	K562	blood:
2	chr7:102936289..102939956-chr7:103018982..103022360,3	K562	blood:
3	chr7:102946980..102949686-chr7:103019517..103021353,2	K562	blood:
4	chr7:103022246..103024891-chr7:103028794..103031272,2	MCF-7	breast:
5	chr7:103015661..103018560-chr7:103018928..103023107,3	K562	blood:
6	chr7:103009562..103011311-chr7:103018091..103020895,2	K562	blood:
7	chr7:103008122..103010482-chr7:103019967..103021498,2	K562	blood:
8	chr7:102945838..102949503-chr7:103019550..103022202,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105819	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73712315	chr7:103020124-103020125	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545123015	chr7:103020169-103020170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368710834	chr7:103020176-103020177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557691608	chr7:103020194-103020195	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563779352	chr7:103020216-103020217	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575669689	chr7:103020271-103020272	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4498476	chr7:103020326-103020327	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10226737	chr7:103020398-103020399	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568858747	chr7:103020479-103020480	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73175856	chr7:103020489-103020490	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528609374	chr7:103020577-103020578	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187675669	chr7:103020621-103020622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143452425	chr7:103020667-103020668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142092544	chr7:103020687-103020688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529109660	chr7:103020710-103020711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370053116	chr7:103020744-103020745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550553315	chr7:103020780-103020781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74615589	chr7:103020870-103020871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532754740	chr7:103020891-103020892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191358470	chr7:103020939-103020940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566208291	chr7:103020972-103020973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533683818	chr7:103020973-103020974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200753697	chr7:103021011-103021012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375669178	chr7:103021028-103021029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115302859	chr7:103021039-103021040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72655395	chr7:103021040-103021041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184312049	chr7:103021053-103021054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533729258	chr7:103021063-103021064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147134040	chr7:103021094-103021095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558219662	chr7:103021096-103021097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148695660	chr7:103021172-103021173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540341800	chr7:103021184-103021185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558376546	chr7:103021217-103021218	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188655056	chr7:103021248-103021249	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573711962	chr7:103021249-103021250	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191616429	chr7:103021338-103021339	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562437501	chr7:103021357-103021358	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113871345	chr7:103021361-103021362	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185205104	chr7:103021362-103021363	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549420395	chr7:103021380-103021381	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559683178	chr7:103021439-103021440	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374926870	chr7:103021448-103021449	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201963979	chr7:103021519-103021520	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575442098	chr7:103021521-103021522	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540297132	chr7:103021524-103021525	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542047022	chr7:103021526-103021527	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62638824	chr7:103021533-103021534	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs535668967	chr7:103021572-103021573	Strong transcription ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551224412	chr7:103021627-103021628	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182204949	chr7:103021644-103021645	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102989800-103021200	Weak transcription	Fetal Heart	heart
2	chr7:103009000-103021000	Weak transcription	Gastric	stomach
3	chr7:103009000-103021000	Weak transcription	Pancreas	Pancrea
4	chr7:103009000-103021200	Weak transcription	Fetal Lung	lung
5	chr7:103009000-103029200	Weak transcription	Spleen	Spleen
6	chr7:103009200-103020800	Weak transcription	HepG2	liver
7	chr7:103010800-103021000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:103019600-103020400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:103020000-103020600	Flanking Active TSS	K562	blood
10	chr7:103020200-103020400	Flanking Bivalent TSS/Enh	A549	lung
11	chr7:103020600-103021600	Enhancers	K562	blood
12	chr7:103020800-103021600	Enhancers	HepG2	liver
13	chr7:103021000-103021200	Enhancers	Fetal Intestine Large	intestine
14	chr7:103021000-103021200	Enhancers	Ovary	ovary
15	chr7:103021000-103021200	Enhancers	Pancreas	Pancrea
16	chr7:103021000-103021400	Enhancers	Stomach Mucosa	stomach
17	chr7:103021000-103022600	Enhancers	Gastric	stomach
18	chr7:103021200-103021400	Bivalent/Poised TSS	Fetal Brain Male	brain
19	chr7:103021200-103021400	Enhancers	Right Ventricle	heart
20	chr7:103021200-103021600	Strong transcription	Fetal Heart	heart
21	chr7:103021200-103021800	ZNF genes & repeats	Fetal Lung	lung
22	chr7:103021400-103027400	Weak transcription	Stomach Mucosa	stomach
23	chr7:103021600-103022200	Genic enhancers	K562	blood
24	chr7:103021600-103023800	Weak transcription	Fetal Heart	heart
25	chr7:103021600-103027600	Weak transcription	HepG2	liver
26	chr7:103021800-103022800	Weak transcription	Fetal Lung	lung
27	chr7:103022200-103022400	Enhancers	K562	blood
28	chr7:103022400-103022600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:103022400-103022600	Flanking Active TSS	K562	blood
30	chr7:103022600-103024000	Enhancers	K562	blood
31	chr7:103022600-103033200	Weak transcription	Gastric	stomach
32	chr7:103023200-103023800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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