Variant report

Variant	esv2761350
Chromosome Location	chr7:100351005-100363009
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100359616..100361364-chr7:100363003..100365535,2	K562	blood:
2	chr7:100354372..100357111-chr7:100360037..100361550,2	K562	blood:
3	chr7:100025109..100027495-chr7:100356653..100358399,2	K562	blood:
4	chr7:100361468..100364463-chr7:100364834..100367793,3	MCF-7	breast:
5	chr7:100354735..100357175-chr7:100423454..100426086,2	MCF-7	breast:
6	chr7:100359616..100361364-chr7:100363003..100365535,2	K562	blood:
7	chr7:100354900..100357111-chr7:100360037..100362854,2	K562	blood:
8	chr7:100355769..100357425-chr7:100362851..100365394,2	MCF-7	breast:
9	chr7:100324153..100326301-chr7:100361628..100364421,2	K562	blood:
10	chr7:100354900..100357111-chr7:100360037..100362854,2	K562	blood:
11	chr7:100355769..100357425-chr7:100362851..100365394,2	MCF-7	breast:
12	chr7:100354372..100357111-chr7:100360037..100361550,2	K562	blood:
13	chr7:100325203..100328007-chr7:100356386..100357913,2	K562	blood:
14	chr7:100349143..100350800-chr7:100355026..100357418,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196411	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000146828	chromatin interactions

Extended variants
information (count: 574 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116928466	chr7:100351023-100351024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150032882	chr7:100351046-100351047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73711168	chr7:100351084-100351085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181191464	chr7:100351098-100351099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565465620	chr7:100351125-100351126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532372380	chr7:100351130-100351131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552520297	chr7:100351141-100351142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554186015	chr7:100351155-100351156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187067945	chr7:100351156-100351157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372501243	chr7:100351168-100351169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559007948	chr7:100351173-100351174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376809828	chr7:100351174-100351175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189863228	chr7:100351243-100351244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369480281	chr7:100351270-100351271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372459916	chr7:100351271-100351272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367810068	chr7:100351291-100351292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397890492	chr7:100351306-100351307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559860363	chr7:100351369-100351370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59347418	chr7:100351478-100351479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577491576	chr7:100351526-100351527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145369881	chr7:100351596-100351597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59409166	chr7:100351603-100351604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116621402	chr7:100351644-100351645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563164721	chr7:100351664-100351665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530834473	chr7:100351678-100351679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369788072	chr7:100351704-100351705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186983238	chr7:100351742-100351743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575249710	chr7:100351743-100351744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565069998	chr7:100351767-100351768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192270675	chr7:100351801-100351802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554380044	chr7:100351825-100351826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369390601	chr7:100351852-100351853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182330382	chr7:100351853-100351854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535905400	chr7:100351908-100351909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112092809	chr7:100351942-100351943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371485550	chr7:100351948-100351949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542510585	chr7:100351954-100351955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559856555	chr7:100352006-100352007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559188564	chr7:100352030-100352031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577491526	chr7:100352105-100352106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111874491	chr7:100352157-100352158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553641811	chr7:100352206-100352207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62483593	chr7:100352212-100352213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542317420	chr7:100352215-100352216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182430293	chr7:100352284-100352285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575581321	chr7:100352350-100352351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113322928	chr7:100352358-100352359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113695518	chr7:100352361-100352362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188721411	chr7:100352403-100352404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547300863	chr7:100352404-100352405	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
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
Breast cancer	21364760	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100343200-100356000	Weak transcription	Right Atrium	heart
2	chr7:100349000-100355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100350800-100351600	Weak transcription	Hela-S3	cervix
4	chr7:100351600-100351800	Enhancers	Hela-S3	cervix
5	chr7:100351800-100354000	Weak transcription	Hela-S3	cervix
6	chr7:100352800-100353000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:100354000-100354200	Enhancers	Hela-S3	cervix
8	chr7:100355800-100356000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100356000-100356400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100356000-100356400	Strong transcription	Right Atrium	heart
11	chr7:100356200-100356400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:100356400-100357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:100356400-100357400	Weak transcription	Right Atrium	heart
14	chr7:100356400-100359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:100356800-100357600	Enhancers	HepG2	liver
16	chr7:100357000-100357600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr7:100357400-100357600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:100357400-100358400	Strong transcription	Right Atrium	heart
19	chr7:100357600-100358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:100358400-100381600	Weak transcription	Right Atrium	heart
21	chr7:100359600-100360000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:100359600-100363200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:100359800-100360000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:100359800-100360000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:100359800-100360000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:100359800-100360000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:100359800-100360000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:100360000-100360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:100360000-100361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:100360000-100363000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:100360400-100360800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr7:100360400-100361000	Enhancers	NHEK	skin
33	chr7:100360400-100363200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:100360400-100363200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:100360600-100361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:100360800-100361800	Enhancers	Esophagus	oesophagus
37	chr7:100361000-100361400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:100361000-100361400	Flanking Active TSS	NHEK	skin
39	chr7:100361200-100361400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100361200-100361600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:100361200-100361600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:100361200-100361600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:100361200-100361600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr7:100361200-100361800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr7:100361400-100361600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:100361400-100361800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:100361400-100361800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:100361400-100363200	Enhancers	NHEK	skin
49	chr7:100361600-100361800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:100361600-100361800	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links