Variant report

Variant	esv2759536
Chromosome Location	chr7:69412504-69594161
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:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69590843..69592598-chr7:69593553..69595231,2	K562	blood:
2	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
3	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
4	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
5	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
6	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
7	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
8	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
9	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
10	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
11	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
12	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
13	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
14	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
15	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
16	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
17	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
18	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
19	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
20	chr17:17140568..17141073-chr7:69416276..69416797,2	HCT-116	colon:
21	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
22	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
23	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
24	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
25	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
26	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
27	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
28	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
29	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
30	chr7:69590843..69592598-chr7:69593553..69595231,2	K562	blood:
31	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
32	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
33	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
34	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
35	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
36	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
37	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
38	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-6	chr7:69440911-69441196	uc_218_-
2	lnc-WBSCR17-7	chr7:69440911-69441196	uc_218_+

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 5908 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:5908 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575134090	chr7:69412525-69412526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569203904	chr7:69412526-69412527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538490335	chr7:69412532-69412533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539854785	chr7:69412592-69412593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186236804	chr7:69412593-69412594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185899174	chr7:69412611-69412612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558181657	chr7:69412623-69412624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578102451	chr7:69412631-69412632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534388631	chr7:69412644-69412645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144442946	chr7:69412717-69412718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191179560	chr7:69412764-69412765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568392030	chr7:69412777-69412778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538483921	chr7:69412783-69412784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540496490	chr7:69412820-69412821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374845212	chr7:69412835-69412836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574878757	chr7:69412862-69412863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545423805	chr7:69412899-69412900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182381920	chr7:69412971-69412972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572644517	chr7:69413008-69413009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539963747	chr7:69413009-69413010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561876782	chr7:69413125-69413126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535363184	chr7:69413259-69413260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368810987	chr7:69413269-69413270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372601047	chr7:69413270-69413271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550815207	chr7:69413279-69413280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562802977	chr7:69413287-69413288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533340001	chr7:69413297-69413298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34812154	chr7:69413530-69413531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543962821	chr7:69413541-69413542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201182329	chr7:69413614-69413615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147992364	chr7:69413654-69413655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188270464	chr7:69413695-69413696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534257100	chr7:69413717-69413718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542107109	chr7:69413760-69413761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549212411	chr7:69413763-69413764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567814040	chr7:69413793-69413794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574401298	chr7:69413796-69413797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560811745	chr7:69413804-69413805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538090830	chr7:69413837-69413838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556795155	chr7:69413848-69413849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62458784	chr7:69413925-69413926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202227788	chr7:69413981-69413982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571655187	chr7:69413983-69413984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539040055	chr7:69414035-69414036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200220014	chr7:69414041-69414042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557293551	chr7:69414046-69414047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572510832	chr7:69414085-69414086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540297614	chr7:69414089-69414090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555184388	chr7:69414103-69414104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573762141	chr7:69414141-69414142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:2177 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69404600-69427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:69406600-69415600	Weak transcription	GM12878-XiMat	blood
4	chr7:69406800-69417200	Weak transcription	Thymus	Thymus
5	chr7:69409400-69412800	Weak transcription	Fetal Heart	heart
6	chr7:69409400-69417200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:69410000-69412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:69410000-69415400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:69410400-69414200	Weak transcription	Fetal Kidney	kidney
10	chr7:69411000-69426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:69412200-69418000	Weak transcription	Fetal Stomach	stomach
12	chr7:69412600-69413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:69412800-69413000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:69412800-69415200	Enhancers	Fetal Heart	heart
15	chr7:69413000-69413400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:69413000-69418000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:69413200-69413400	Enhancers	Fetal Lung	lung
18	chr7:69413200-69413400	Enhancers	Stomach Smooth Muscle	stomach
19	chr7:69413400-69414400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:69413400-69416400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:69413400-69417200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:69413400-69417800	Weak transcription	Fetal Lung	lung
23	chr7:69414200-69414800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:69414200-69415000	Enhancers	Fetal Kidney	kidney
25	chr7:69414400-69414800	Enhancers	Stomach Smooth Muscle	stomach
26	chr7:69414800-69423400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:69415000-69427200	Weak transcription	Fetal Kidney	kidney
28	chr7:69415200-69418000	Weak transcription	Fetal Heart	heart
29	chr7:69415600-69415800	Enhancers	Left Ventricle	heart
30	chr7:69415600-69417800	Enhancers	GM12878-XiMat	blood
31	chr7:69415800-69422800	Weak transcription	Left Ventricle	heart
32	chr7:69416200-69416600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:69416200-69420800	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:69416400-69416600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:69416400-69424000	Enhancers	Fetal Thymus	thymus
36	chr7:69416600-69417800	Enhancers	Dnd41	blood
37	chr7:69416600-69418000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:69417000-69417200	Enhancers	Primary B cells from cord blood	blood
39	chr7:69417200-69417600	Weak transcription	Primary B cells from cord blood	blood
40	chr7:69417200-69419000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:69417200-69420800	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:69417200-69421800	Enhancers	Thymus	Thymus
43	chr7:69417400-69418200	Enhancers	Primary T cells from cord blood	blood
44	chr7:69417400-69418200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:69417600-69418000	Enhancers	Primary B cells from cord blood	blood
46	chr7:69417600-69419800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:69417800-69418000	Enhancers	Adipose Nuclei	Adipose
48	chr7:69417800-69418600	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:69417800-69418600	Flanking Active TSS	GM12878-XiMat	blood
50	chr7:69417800-69419200	Flanking Active TSS	Dnd41	blood

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