Variant report

Variant	nsv1027399
Chromosome Location	chr7:69197011-69239721
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:74657888..74658544-chr7:69197714..69198694,2	Hela-S3	cervix:
2	chr4:100993641..100994147-chr7:69228084..69228959,2	MCF-7	breast:
3	chr7:69215801..69218748-chr7:69224882..69226979,2	MCF-7	breast:
4	chr7:69221100..69223201-chr7:69225003..69226739,2	K562	blood:
5	chr7:69221100..69223201-chr7:69225003..69226739,2	K562	blood:
6	chr7:69215801..69218748-chr7:69224882..69226979,2	MCF-7	breast:
7	chr7:69217367..69219990-chr7:69230270..69231785,2	MCF-7	breast:
8	chr7:69211697..69213251-chr7:69245459..69247066,2	MCF-7	breast:
9	chr7:69217367..69219990-chr7:69230270..69231785,2	MCF-7	breast:
10	chr7:69198010..69200817-chr7:69202964..69204701,2	K562	blood:
11	chr7:69198010..69200817-chr7:69202964..69204701,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140459	chromatin interactions

Extended variants
information (count: 1420 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549841504	chr7:69197038-69197039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570530320	chr7:69197041-69197042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537949792	chr7:69197063-69197064	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373083163	chr7:69197067-69197068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539212769	chr7:69197158-69197159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79630263	chr7:69197180-69197181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566318133	chr7:69197187-69197188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528869184	chr7:69197352-69197353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536968884	chr7:69197360-69197361	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555367723	chr7:69197416-69197417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573664342	chr7:69197496-69197497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371412074	chr7:69197520-69197521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556222657	chr7:69197538-69197539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375612822	chr7:69197611-69197612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577707741	chr7:69197642-69197643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4718905	chr7:69197797-69197798	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371007746	chr7:69197842-69197843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560110392	chr7:69197861-69197862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527545330	chr7:69197876-69197877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542495874	chr7:69197933-69197934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190660109	chr7:69197970-69197971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544484980	chr7:69197989-69197990	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs585282	chr7:69198063-69198064	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549802860	chr7:69198083-69198084	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571673065	chr7:69198134-69198135	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146802961	chr7:69198137-69198138	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540205569	chr7:69198146-69198147	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115200957	chr7:69198173-69198174	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548993891	chr7:69198241-69198242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566157962	chr7:69198265-69198266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536882062	chr7:69198272-69198273	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116741940	chr7:69198285-69198286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537833186	chr7:69198339-69198340	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181446761	chr7:69198524-69198525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185604310	chr7:69198526-69198527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200255161	chr7:69198556-69198557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201716309	chr7:69198561-69198562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190018169	chr7:69198582-69198583	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10229578	chr7:69198598-69198599	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs199854414	chr7:69198663-69198664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538368322	chr7:69198676-69198677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553864196	chr7:69198714-69198715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571885920	chr7:69198715-69198716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs521259	chr7:69198745-69198746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs13239335	chr7:69198773-69198774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377679229	chr7:69198942-69198943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560839328	chr7:69198969-69198970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575939514	chr7:69198982-69198983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543751942	chr7:69199035-69199036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528938101	chr7:69199042-69199043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69185000-69203000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:69193400-69202400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:69193400-69204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:69193800-69203800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:69195600-69198200	Enhancers	Stomach Mucosa	stomach
6	chr7:69195800-69198000	Enhancers	A549	lung
7	chr7:69196000-69198800	Enhancers	Brain Germinal Matrix	brain
8	chr7:69196000-69203000	Weak transcription	Fetal Lung	lung
9	chr7:69196400-69198400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:69196400-69198400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:69196600-69197400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:69196600-69197600	Enhancers	Colon Smooth Muscle	Colon
13	chr7:69196600-69198000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:69196600-69198000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:69196600-69198000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:69196600-69198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:69196600-69198400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:69196600-69198600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:69196600-69198600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:69196600-69198600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:69196600-69198600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:69196600-69199000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:69196800-69197400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:69196800-69197600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:69196800-69198000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:69196800-69198400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:69197000-69197400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:69197000-69197400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:69197000-69197400	Enhancers	Fetal Stomach	stomach
30	chr7:69197000-69197400	Enhancers	Psoas Muscle	Psoas
31	chr7:69197000-69197600	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:69197000-69197600	Enhancers	Fetal Brain Male	brain
33	chr7:69197000-69197600	Enhancers	Ovary	ovary
34	chr7:69197000-69197800	Enhancers	NH-A	brain
35	chr7:69197000-69198000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:69197000-69198000	Enhancers	Fetal Kidney	kidney
37	chr7:69197000-69198200	Enhancers	Fetal Intestine Small	intestine
38	chr7:69197000-69198400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:69197000-69198600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:69197000-69198600	Enhancers	NHEK	skin
41	chr7:69197000-69199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr7:69197200-69197400	Enhancers	Brain Hippocampus Middle	brain
43	chr7:69197200-69197600	Enhancers	Fetal Heart	heart
44	chr7:69197200-69198000	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:69197200-69200600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:69197400-69197600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:69197400-69197600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:69197400-69197600	Enhancers	Stomach Smooth Muscle	stomach
49	chr7:69197400-69198000	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:69197400-69198600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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