Variant report

Variant	esv1007231
Chromosome Location	chr7:70125357-70129451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7791363	chr7:70125364-70125365	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539105701	chr7:70125391-70125392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560551031	chr7:70125400-70125401	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572605079	chr7:70125454-70125455	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543019238	chr7:70125466-70125467	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561377586	chr7:70125470-70125471	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73451622	chr7:70125484-70125485	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370450030	chr7:70125564-70125565	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79562011	chr7:70125574-70125575	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544108054	chr7:70125610-70125611	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565292137	chr7:70125614-70125615	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574943409	chr7:70125630-70125631	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17141963	chr7:70125709-70125710	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559800685	chr7:70125742-70125743	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111259679	chr7:70125745-70125746	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11767503	chr7:70125749-70125750	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567294794	chr7:70125756-70125757	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74880847	chr7:70125794-70125795	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144278022	chr7:70125807-70125808	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571320204	chr7:70125869-70125870	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545205262	chr7:70125882-70125883	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs187341554	chr7:70125910-70125911	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148308781	chr7:70125918-70125919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566173079	chr7:70125963-70125964	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190909797	chr7:70125966-70125967	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141951916	chr7:70126028-70126029	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576390145	chr7:70126046-70126047	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543732136	chr7:70126094-70126095	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4718978	chr7:70126146-70126147	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs746807	chr7:70126193-70126194	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369328312	chr7:70126196-70126197	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541205789	chr7:70126230-70126231	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559566604	chr7:70126233-70126234	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs736477	chr7:70126273-70126274	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542709738	chr7:70126357-70126358	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146030827	chr7:70126392-70126393	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139949425	chr7:70126394-70126395	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62456809	chr7:70126440-70126441	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73178275	chr7:70126471-70126472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546873030	chr7:70126597-70126598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532494448	chr7:70126632-70126633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547602728	chr7:70126649-70126650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182743337	chr7:70126652-70126653	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536304907	chr7:70126655-70126656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143401757	chr7:70126663-70126664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566592270	chr7:70126664-70126665	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150779687	chr7:70126677-70126678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13223886	chr7:70126687-70126688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558710981	chr7:70126695-70126696	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577118281	chr7:70126722-70126723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70101000-70158200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:70103400-70133600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:70103600-70125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:70107000-70143800	Weak transcription	Primary B cells from cord blood	blood
5	chr7:70107400-70126200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:70109600-70127000	Weak transcription	Esophagus	oesophagus
7	chr7:70109600-70132600	Weak transcription	Liver	Liver
8	chr7:70110800-70128800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:70111600-70126200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:70111800-70126200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:70112800-70146000	Weak transcription	Spleen	Spleen
12	chr7:70113200-70125600	Weak transcription	Fetal Brain Female	brain
13	chr7:70114000-70128000	Weak transcription	Dnd41	blood
14	chr7:70115200-70126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:70118200-70125800	Weak transcription	Gastric	stomach
16	chr7:70120200-70127400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:70120600-70126800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:70120600-70127000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:70120600-70133200	Weak transcription	Aorta	Aorta
20	chr7:70120600-70141600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:70120800-70138800	Weak transcription	Right Atrium	heart
22	chr7:70121600-70126200	Enhancers	Fetal Thymus	thymus
23	chr7:70121600-70133200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:70121800-70127400	Weak transcription	Fetal Lung	lung
25	chr7:70122000-70125800	Enhancers	Primary T cells from cord blood	blood
26	chr7:70122800-70127000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:70123000-70127000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:70123000-70138800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:70123200-70133600	Weak transcription	Adipose Nuclei	Adipose
30	chr7:70123400-70125400	Weak transcription	Fetal Stomach	stomach
31	chr7:70123400-70125600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:70123400-70131600	Weak transcription	Left Ventricle	heart
33	chr7:70123400-70135000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:70123600-70125600	Weak transcription	Psoas Muscle	Psoas
35	chr7:70123600-70125800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:70123600-70130600	Weak transcription	Fetal Heart	heart
37	chr7:70123800-70127200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:70123800-70146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:70124000-70126200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:70124000-70126400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:70124000-70127200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:70124200-70125400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:70124200-70125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:70124200-70125400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:70124200-70127000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:70124400-70126400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:70124400-70126600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:70124600-70125400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:70124600-70129600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:70124600-70134800	Weak transcription	Thymus	Thymus

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