Variant report

Variant	nsv888925
Chromosome Location	chr7:104047599-104170560
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	chr7:104165256..104168203-chr7:104170842..104173098,2	K562	blood:
2	chr7:104116326..104118271-chr7:104120490..104122144,2	K562	blood:
3	chr7:104116326..104118271-chr7:104120490..104122144,2	K562	blood:
4	chr7:104142316..104144690-chr7:104144743..104146958,2	MCF-7	breast:
5	chr7:104090683..104093466-chr7:104097985..104100510,2	K562	blood:
6	chr7:103913016..103913860-chr7:104055484..104056822,4	MCF-7	breast:
7	chr7:104076045..104077944-chr7:104087958..104090019,2	K562	blood:
8	chr7:104142316..104144690-chr7:104144743..104146958,2	MCF-7	breast:
9	chr7:104090683..104093466-chr7:104097985..104100510,2	K562	blood:
10	chr7:104167917..104170559-chr7:104173438..104175788,2	K562	blood:
11	chr7:104149829..104151868-chr7:104153766..104155877,2	K562	blood:
12	chr7:103912958..103913550-chr7:104056161..104056804,2	MCF-7	breast:
13	chr7:104149829..104151868-chr7:104153766..104155877,2	K562	blood:
14	chr7:104076045..104077944-chr7:104087958..104090019,2	K562	blood:

No data

Extended variants
information (count: 1217 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10275737	chr7:104051611-104051612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17137410	chr7:104051632-104051633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575419280	chr7:104051657-104051658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192983898	chr7:104052620-104052621	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556523687	chr7:104052647-104052648	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs183985403	chr7:104052648-104052649	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs151159332	chr7:104052711-104052712	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs373106301	chr7:104052739-104052740	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs141126100	chr7:104052753-104052754	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs577325604	chr7:104052767-104052768	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs146929800	chr7:104052771-104052772	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs539828256	chr7:104052772-104052773	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs565208579	chr7:104052796-104052797	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs559767203	chr7:104052823-104052824	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530053608	chr7:104052865-104052866	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs138229813	chr7:104052879-104052880	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs187035045	chr7:104052886-104052887	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs530875801	chr7:104052895-104052896	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs9886169	chr7:104052943-104052944	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570564608	chr7:104052974-104052975	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs191131425	chr7:104053019-104053020	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs148281379	chr7:104053025-104053026	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs546399659	chr7:104053034-104053035	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs568114756	chr7:104053040-104053041	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs535156720	chr7:104053077-104053078	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556585370	chr7:104053212-104053213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375759594	chr7:104053221-104053222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565950692	chr7:104053240-104053241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574882761	chr7:104053290-104053291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183675161	chr7:104053327-104053328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374394395	chr7:104053374-104053375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368327300	chr7:104053378-104053379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371784850	chr7:104053384-104053385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559033866	chr7:104053404-104053405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528045990	chr7:104053448-104053449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190267380	chr7:104053456-104053457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541576749	chr7:104053470-104053471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559673346	chr7:104053591-104053592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530286300	chr7:104053632-104053633	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs548396601	chr7:104053634-104053635	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs574907634	chr7:104053662-104053663	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs75404964	chr7:104053679-104053680	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs193229884	chr7:104053682-104053683	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs77624469	chr7:104053730-104053731	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs17137434	chr7:104053731-104053732	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564377555	chr7:104053737-104053738	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs185680206	chr7:104053750-104053751	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs546801410	chr7:104053784-104053785	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568158466	chr7:104053787-104053788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs190191869	chr7:104053809-104053810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104051600-104051800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:104052600-104053000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:104052600-104053400	Enhancers	Brain Anterior Caudate	brain
4	chr7:104052800-104054200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:104053000-104053200	Bivalent Enhancer	Fetal Brain Female	brain
6	chr7:104053000-104053400	Enhancers	Brain Germinal Matrix	brain
7	chr7:104053000-104053600	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:104053000-104055600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:104053400-104053600	Enhancers	Brain Angular Gyrus	brain
10	chr7:104053400-104054600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:104053600-104053800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr7:104053600-104054800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:104053600-104055000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:104053800-104055000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:104054000-104054200	Enhancers	Brain Substantia Nigra	brain
16	chr7:104054000-104055400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:104054200-104054600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:104054600-104054800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:104054600-104054800	Enhancers	Brain Germinal Matrix	brain
20	chr7:104054600-104055000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:104054800-104055200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:104054800-104055200	Weak transcription	Brain Germinal Matrix	brain
23	chr7:104055000-104055200	Enhancers	Brain Cingulate Gyrus	brain
24	chr7:104055000-104055400	Enhancers	Brain Angular Gyrus	brain
25	chr7:104055200-104055400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:104055200-104055400	Enhancers	Brain Substantia Nigra	brain
27	chr7:104055200-104055800	Enhancers	Brain Germinal Matrix	brain
28	chr7:104055400-104055800	Weak transcription	Brain Substantia Nigra	brain
29	chr7:104056200-104056400	Enhancers	Brain Substantia Nigra	brain
30	chr7:104056600-104056800	Bivalent Enhancer	Fetal Brain Male	brain
31	chr7:104059800-104060600	Enhancers	HepG2	liver
32	chr7:104063400-104064200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:104063800-104064200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:104064200-104064600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:104064600-104065000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:104068000-104069000	Enhancers	Brain Hippocampus Middle	brain
37	chr7:104078200-104078600	Enhancers	Fetal Intestine Large	intestine
38	chr7:104082800-104084000	Enhancers	Fetal Brain Female	brain
39	chr7:104083200-104084800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:104083600-104084400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:104084400-104084600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:104084600-104092800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:104085800-104086800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:104086200-104086800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:104086800-104089600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:104089200-104089600	Enhancers	Brain Germinal Matrix	brain
47	chr7:104089600-104090200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:104091400-104092000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:104093400-104093600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr7:104108800-104109000	Enhancers	Rectal Mucosa Donor 31	rectum

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