Variant report

Variant	nsv538927
Chromosome Location	chr7:69817143-69978454
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:19)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69848786..69851251-chr7:69853357..69855930,2	MCF-7	breast:
2	chr7:69974438..69975056-chr9:110290515..110291142,2	MCF-7	breast:
3	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:
4	chr7:69911189..69912929-chr7:69913285..69916011,2	MCF-7	breast:
5	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:
6	chr7:69816727..69818493-chr7:69819760..69821575,2	K562	blood:
7	chr7:69848786..69851251-chr7:69853357..69855930,2	MCF-7	breast:
8	chr7:69962073..69964244-chr7:69965970..69968066,2	K562	blood:
9	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:
10	chr7:69911189..69912929-chr7:69913285..69916011,2	MCF-7	breast:
11	chr7:69843540..69845241-chr7:69851441..69854284,2	K562	blood:
12	chr7:69843540..69845241-chr7:69851441..69854284,2	K562	blood:
13	chr7:69962073..69964244-chr7:69965970..69968066,2	K562	blood:
14	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:
15	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:
16	chr7:69816727..69818493-chr7:69819760..69821575,2	K562	blood:
17	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:
18	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:
19	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WBSCR17-4	chr7:69960515-69961328	NONHSAT121332
2	lnc-WBSCR17-4	chr7:69961634-69962155	NONHSAT121332
3	lnc-WBSCR17-5	chr7:69900738-69901163	NONHSAT121328

No data

Extended variants
information (count: 5655 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:5655 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369881038	chr7:69817166-69817167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559227757	chr7:69817176-69817177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370057764	chr7:69817189-69817190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373770643	chr7:69817195-69817196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78973414	chr7:69817265-69817266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138589061	chr7:69817315-69817316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553811583	chr7:69817366-69817367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569285619	chr7:69817398-69817399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368574748	chr7:69817410-69817411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572022660	chr7:69817421-69817422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56822156	chr7:69817515-69817516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189428300	chr7:69817529-69817530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576221888	chr7:69817619-69817620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74932393	chr7:69817620-69817621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117035372	chr7:69817638-69817639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532323074	chr7:69817665-69817666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532107167	chr7:69817697-69817698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562775932	chr7:69817718-69817719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531575640	chr7:69817740-69817741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530026396	chr7:69817758-69817759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550483220	chr7:69817769-69817770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564004578	chr7:69817771-69817772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548307757	chr7:69817809-69817810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78432855	chr7:69817827-69817828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537521032	chr7:69817839-69817840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552511247	chr7:69817852-69817853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148869055	chr7:69817858-69817859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112736807	chr7:69817947-69817948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146961072	chr7:69817965-69817966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572711327	chr7:69817966-69817967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181999186	chr7:69818002-69818003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186539358	chr7:69818030-69818031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554677377	chr7:69818045-69818046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576078019	chr7:69818268-69818269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543473939	chr7:69818289-69818290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558485420	chr7:69818298-69818299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190813612	chr7:69818373-69818374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540975416	chr7:69818390-69818391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533826859	chr7:69818391-69818392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559205481	chr7:69818447-69818448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530063163	chr7:69818475-69818476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541840857	chr7:69818478-69818479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563663042	chr7:69818514-69818515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115366576	chr7:69818547-69818548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376446775	chr7:69818595-69818596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138042680	chr7:69818616-69818617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528685814	chr7:69818654-69818655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547353819	chr7:69818676-69818677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568750001	chr7:69818683-69818684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536129238	chr7:69818797-69818798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Dyslexia	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69803000-69819600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:69806200-69817800	Weak transcription	Fetal Lung	lung
3	chr7:69809200-69818400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69811400-69817800	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:69815200-69817200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:69815600-69820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:69817000-69817600	Enhancers	Liver	Liver
8	chr7:69817000-69821200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr7:69817000-69822200	Enhancers	Fetal Stomach	stomach
10	chr7:69817200-69819200	Enhancers	Stomach Smooth Muscle	stomach
11	chr7:69817200-69822200	Enhancers	Colon Smooth Muscle	Colon
12	chr7:69817400-69817600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:69817400-69817800	Weak transcription	Fetal Brain Female	brain
14	chr7:69817600-69818200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:69817600-69819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:69817600-69819800	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:69817800-69818000	Enhancers	Fetal Brain Female	brain
18	chr7:69817800-69819200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:69817800-69820200	Enhancers	Fetal Lung	lung
20	chr7:69818000-69819000	Weak transcription	Fetal Brain Female	brain
21	chr7:69818200-69820200	Enhancers	NHDF-Ad	bronchial
22	chr7:69818200-69820600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:69818400-69818600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:69818400-69818600	Enhancers	Right Atrium	heart
25	chr7:69818400-69818800	Enhancers	Brain Hippocampus Middle	brain
26	chr7:69818400-69819800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:69818400-69819800	Enhancers	Fetal Kidney	kidney
28	chr7:69818400-69821200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:69818400-69821400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:69818400-69822400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:69818600-69818800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:69818600-69819400	Enhancers	Brain Substantia Nigra	brain
33	chr7:69818600-69824600	Weak transcription	Right Atrium	heart
34	chr7:69818800-69819000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:69818800-69819800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:69819000-69819200	Enhancers	Fetal Brain Female	brain
37	chr7:69819000-69820400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:69819000-69820400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:69819000-69820600	Enhancers	Dnd41	blood
40	chr7:69819000-69821800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:69819200-69819600	Weak transcription	Fetal Brain Female	brain
42	chr7:69819200-69820200	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:69819200-69820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:69819400-69819600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:69819400-69819800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:69819400-69819800	Enhancers	GM12878-XiMat	blood
47	chr7:69819400-69820400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:69819400-69820600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:69819400-69821000	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:69819400-69825200	Weak transcription	Brain Substantia Nigra	brain

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