Variant report

Variant	nsv887912
Chromosome Location	chr7:31178749-31234875
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:1)
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	chr7:31232365..31233551-chr7:31290844..31291798,4	MCF-7	breast:
2	chr7:31232508..31233042-chr7:31528001..31528865,2	MCF-7	breast:
3	chr7:31185778..31188196-chr7:31190214..31193127,2	K562	blood:
4	chr7:31215062..31215960-chr7:31673297..31674218,3	MCF-7	breast:
5	chr7:31233626..31236067-chr7:31238683..31241164,2	K562	blood:
6	chr7:31185778..31188196-chr7:31190214..31193127,2	K562	blood:
7	chr7:31232613..31233317-chr7:31515441..31516074,2	MCF-7	breast:
8	chr7:31232264..31232789-chr7:31291158..31291874,2	MCF-7	breast:
9	chr7:31232293..31233120-chr7:31528337..31528873,2	K562	blood:
10	chr7:31232359..31233151-chr7:31673227..31674215,5	MCF-7	breast:
11	chr7:31232623..31233417-chr7:32203853..32204496,2	MCF-7	breast:
12	chr7:31232428..31232972-chr7:31514360..31515008,2	MCF-7	breast:
13	chr7:31233866..31234772-chr7:31672942..31673760,2	K562	blood:
14	chr7:31232349..31232849-chr7:31412773..31413480,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCYAP1R1-1	chr7:31200957-31201013	NONHSAT119945

No data

Extended variants
information (count: 1334 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4291168	chr7:31178749-31178750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553006221	chr7:31178750-31178751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188737172	chr7:31178781-31178782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113927383	chr7:31178833-31178834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538860972	chr7:31178851-31178852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148308917	chr7:31178891-31178892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181174583	chr7:31178893-31178894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183658664	chr7:31178907-31178908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559194574	chr7:31178929-31178930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575680181	chr7:31179095-31179096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187975779	chr7:31179106-31179107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182478138	chr7:31179116-31179117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10085460	chr7:31179136-31179137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544679136	chr7:31179140-31179141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10085461	chr7:31179147-31179148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533260738	chr7:31179204-31179205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574796432	chr7:31179237-31179238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10085470	chr7:31179260-31179261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115441068	chr7:31179265-31179266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531120366	chr7:31179277-31179278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192226806	chr7:31179294-31179295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145171846	chr7:31179299-31179300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375780592	chr7:31179300-31179301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566945937	chr7:31179301-31179302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60371314	chr7:31179308-31179309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77435138	chr7:31179317-31179318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10085745	chr7:31179353-31179354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546262390	chr7:31179375-31179376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571359301	chr7:31179377-31179378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538351793	chr7:31179389-31179390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566203863	chr7:31179449-31179450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557193718	chr7:31179555-31179556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181846455	chr7:31179561-31179562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536563752	chr7:31179616-31179617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554874401	chr7:31179619-31179620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10085492	chr7:31179654-31179655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577466598	chr7:31179689-31179690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553089224	chr7:31179714-31179715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146038489	chr7:31179740-31179741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551998731	chr7:31179762-31179763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10237966	chr7:31179782-31179783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13221064	chr7:31179794-31179795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12701052	chr7:31179836-31179837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138769868	chr7:31179839-31179840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186076412	chr7:31179853-31179854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528769798	chr7:31179937-31179938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546618739	chr7:31179950-31179951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190402410	chr7:31179969-31179970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532243653	chr7:31180049-31180050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4529362	chr7:31180092-31180093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31175000-31192600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:31179600-31179800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:31185200-31185600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:31185600-31189600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:31185800-31186200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:31185800-31186400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:31186000-31186600	Enhancers	Placenta	Placenta
8	chr7:31192600-31193200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:31193200-31206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:31202000-31202400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:31202000-31202400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:31202000-31202400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:31202000-31202400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:31206400-31206600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:31206400-31206800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:31225200-31227000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:31225400-31225800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:31225400-31226400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:31225600-31226200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:31226600-31226800	Enhancers	Fetal Muscle Leg	muscle
21	chr7:31228400-31232800	Weak transcription	Right Atrium	heart
22	chr7:31230800-31231000	Enhancers	Fetal Brain Female	brain
23	chr7:31231000-31232000	Weak transcription	Fetal Brain Female	brain
24	chr7:31232000-31232400	Enhancers	Fetal Brain Female	brain
25	chr7:31232200-31233200	Enhancers	Fetal Brain Male	brain
26	chr7:31232400-31232600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:31232400-31232600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:31232400-31232600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:31232400-31232600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr7:31232400-31232600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:31232400-31232600	Enhancers	Brain Germinal Matrix	brain
32	chr7:31232400-31232800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:31232400-31232800	Active TSS	Fetal Brain Female	brain
34	chr7:31232400-31233000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:31232400-31233000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:31232400-31233000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:31232400-31233000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:31232400-31233000	Enhancers	Fetal Lung	lung
39	chr7:31232600-31232800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:31232600-31232800	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:31232600-31232800	Active TSS	Brain Hippocampus Middle	brain
42	chr7:31232600-31232800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr7:31232600-31232800	Enhancers	Psoas Muscle	Psoas
44	chr7:31232600-31233000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:31232600-31233000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:31232600-31233000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:31232600-31233000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:31232600-31233000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr7:31232600-31233000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr7:31232600-31233000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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