Variant report

Variant	nsv516060
Chromosome Location	chr7:104618318-104622402
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:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104607959..104610771-chr7:104619164..104621413,2	MCF-7	breast:
2	chr7:104621712..104624253-chr7:104752670..104756026,3	K562	blood:
3	chr7:104598820..104600629-chr7:104619453..104622202,2	K562	blood:
4	chr7:104621807..104625592-chr7:104704805..104708118,3	K562	blood:
5	chr7:104614411..104616151-chr7:104616345..104619508,3	MCF-7	breast:
6	chr7:104621844..104624679-chr7:104701034..104702609,2	K562	blood:
7	chr7:104549448..104551794-chr7:104621596..104624143,2	K562	blood:
8	chr7:104619886..104621956-chr7:104705400..104707760,2	K562	blood:
9	chr7:104615466..104619404-chr7:104620250..104622785,4	MCF-7	breast:
10	chr7:104583958..104586878-chr7:104622233..104624393,3	K562	blood:
11	chr7:104615466..104619404-chr7:104620250..104622785,4	MCF-7	breast:
12	chr7:104621885..104623495-chr7:105038172..105040017,2	K562	blood:
13	chr7:104621410..104622279-chr7:105069837..105070818,3	K562	blood:
14	chr7:104621634..104622334-chr7:105128158..105128926,3	K562	blood:
15	chr7:104614363..104616334-chr7:104616963..104619418,2	MCF-7	breast:
16	chr7:104620361..104623335-chr7:104771207..104773173,3	K562	blood:
17	chr7:104621940..104625883-chr7:105161426..105164380,3	K562	blood:
18	chr7:104611328..104613313-chr7:104621521..104624250,2	MCF-7	breast:
19	chr7:104563103..104563980-chr7:104621812..104622359,3	K562	blood:
20	chr7:104622359..104624225-chr7:104726075..104728986,2	K562	blood:
21	chr7:104502180..104504353-chr7:104618581..104620637,2	K562	blood:
22	chr7:104621330..104622455-chr7:104680668..104682176,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622196-104625367	NONHSAT122590
2	lnc-SRPK2-1	chr7:104622196-104624373	NONHSAT122591
3	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589

No data

Variant related genes	Relation type
ENSG00000251911	chromatin interactions
ENSG00000091127	chromatin interactions
ENSG00000135250	chromatin interactions
ENSG00000005483	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67665940	chr7:104618318-104618319	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577055931	chr7:104618378-104618379	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139667274	chr7:104618402-104618403	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188154222	chr7:104618444-104618445	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567002808	chr7:104618477-104618478	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191183082	chr7:104618542-104618543	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182306258	chr7:104618550-104618551	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575766270	chr7:104618602-104618603	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149857567	chr7:104618641-104618642	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558037768	chr7:104618648-104618649	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576418776	chr7:104618666-104618667	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186700644	chr7:104618668-104618669	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561200306	chr7:104618677-104618678	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559000069	chr7:104618756-104618757	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528223622	chr7:104618784-104618785	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541575236	chr7:104618791-104618792	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534749591	chr7:104618818-104618819	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144819970	chr7:104618826-104618827	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530620007	chr7:104618836-104618837	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148568217	chr7:104618886-104618887	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570802237	chr7:104618900-104618901	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533362660	chr7:104618904-104618905	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547045006	chr7:104618929-104618930	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386716472	chr7:104618975-104618976	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192318718	chr7:104618993-104618994	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535913081	chr7:104619014-104619015	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540254515	chr7:104619015-104619016	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185598022	chr7:104619021-104619022	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144377017	chr7:104619053-104619054	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577588381	chr7:104619078-104619079	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368257453	chr7:104619081-104619082	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555603275	chr7:104619164-104619165	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs146708713	chr7:104619195-104619196	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565616753	chr7:104619234-104619235	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140294790	chr7:104619236-104619237	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190216071	chr7:104619265-104619266	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532619993	chr7:104619267-104619268	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375707218	chr7:104619389-104619390	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369016925	chr7:104619407-104619408	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111354418	chr7:104619422-104619423	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562709019	chr7:104619440-104619441	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552899677	chr7:104619453-104619454	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559838611	chr7:104619466-104619467	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193001180	chr7:104619472-104619473	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541861742	chr7:104619494-104619495	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144018327	chr7:104619503-104619504	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575387642	chr7:104619531-104619532	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184806484	chr7:104619547-104619548	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542966650	chr7:104619551-104619552	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564351869	chr7:104619559-104619560	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:104601800-104622800	Weak transcription	Thymus	Thymus
9	chr7:104604600-104620200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:104606600-104622000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:104608400-104623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:104612600-104619600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:104612800-104621400	Weak transcription	Liver	Liver
14	chr7:104613000-104619800	Weak transcription	Fetal Thymus	thymus
15	chr7:104614400-104621400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:104615000-104618400	Weak transcription	Psoas Muscle	Psoas
17	chr7:104615000-104619600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:104615000-104619800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:104615000-104620800	Strong transcription	Primary B cells from cord blood	blood
20	chr7:104615000-104621000	Weak transcription	GM12878-XiMat	blood
21	chr7:104615200-104618800	Weak transcription	NHEK	skin
22	chr7:104615200-104619000	Weak transcription	HMEC	breast
23	chr7:104615200-104619000	Weak transcription	NH-A	brain
24	chr7:104615200-104619200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:104615200-104619200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:104615200-104619400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:104615200-104619400	Weak transcription	HUVEC	blood vessel
28	chr7:104615200-104619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:104615200-104619800	Weak transcription	Right Ventricle	heart
30	chr7:104615200-104622000	Weak transcription	Fetal Heart	heart
31	chr7:104616200-104620600	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:104616200-104622800	Enhancers	Stomach Smooth Muscle	stomach
33	chr7:104616200-104623400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:104616400-104618600	Enhancers	Stomach Mucosa	stomach
35	chr7:104616400-104622800	Enhancers	NHDF-Ad	bronchial
36	chr7:104616600-104618600	Enhancers	Left Ventricle	heart
37	chr7:104616800-104618400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr7:104616800-104618400	Enhancers	Fetal Brain Female	brain
39	chr7:104616800-104619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:104616800-104619200	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:104616800-104620200	Enhancers	Brain Angular Gyrus	brain
42	chr7:104616800-104620400	Enhancers	Brain Hippocampus Middle	brain
43	chr7:104616800-104620400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr7:104616800-104620600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr7:104616800-104620600	Enhancers	NHLF	lung
46	chr7:104616800-104621400	Enhancers	Colon Smooth Muscle	Colon
47	chr7:104616800-104623400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:104616800-104623400	Enhancers	Adipose Nuclei	Adipose
49	chr7:104617000-104618800	Enhancers	Small Intestine	intestine
50	chr7:104617200-104618400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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