Variant report

Variant	nsv608261
Chromosome Location	chr7:117917719-117965390
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:
2	chr7:117916864..117919001-chr7:117920265..117922583,2	MCF-7	breast:
3	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:
4	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
5	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
6	chr7:117916864..117919001-chr7:117920265..117922583,2	MCF-7	breast:
7	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:
8	chr7:117914543..117916311-chr7:117931955..117934025,2	K562	blood:
9	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:

No data

Extended variants
information (count: 1337 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1337 , 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	rs41923	chr7:117917719-117917720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542997368	chr7:117917721-117917722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377157064	chr7:117917783-117917784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113542646	chr7:117917787-117917788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559171549	chr7:117917820-117917821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556481148	chr7:117917829-117917830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575030658	chr7:117917878-117917879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6953988	chr7:117917906-117917907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560440387	chr7:117917914-117917915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17141188	chr7:117917916-117917917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563857988	chr7:117917954-117917955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373317217	chr7:117917959-117917960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564551946	chr7:117917960-117917961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35200552	chr7:117917972-117917973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531774883	chr7:117918033-117918034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74954828	chr7:117918040-117918041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192078475	chr7:117918133-117918134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184981209	chr7:117918164-117918165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10260739	chr7:117918224-117918225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115538672	chr7:117918246-117918247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116829294	chr7:117918255-117918256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539598345	chr7:117918269-117918270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114838452	chr7:117918282-117918283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569401176	chr7:117918301-117918302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564982027	chr7:117918318-117918319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149582842	chr7:117918328-117918329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs41924	chr7:117918347-117918348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs189912486	chr7:117918495-117918496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181181847	chr7:117918507-117918508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554368726	chr7:117918509-117918510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540911734	chr7:117918530-117918531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369650528	chr7:117918535-117918536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186199893	chr7:117918539-117918540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546405348	chr7:117918550-117918551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573534464	chr7:117918588-117918589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564615953	chr7:117918621-117918622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146621507	chr7:117918652-117918653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543845411	chr7:117918658-117918659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4730842	chr7:117918727-117918728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4730843	chr7:117918765-117918766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547402980	chr7:117918775-117918776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77268410	chr7:117918781-117918782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188226011	chr7:117918786-117918787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4730844	chr7:117918792-117918793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182062800	chr7:117918793-117918794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544833324	chr7:117918805-117918806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536708813	chr7:117918854-117918855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548584097	chr7:117918887-117918888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186437447	chr7:117918904-117918905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534592659	chr7:117918928-117918929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117915200-117920200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:117917200-117919600	Weak transcription	Dnd41	blood
3	chr7:117919600-117922600	Enhancers	Dnd41	blood
4	chr7:117920200-117920600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:117920200-117920600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:117920200-117921400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:117920200-117921600	Enhancers	Fetal Intestine Small	intestine
8	chr7:117920600-117921000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:117920600-117921000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:117921000-117921200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:117921000-117921200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:117921000-117921800	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:117921000-117922000	Enhancers	HUVEC	blood vessel
14	chr7:117921200-117921600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:117921400-117921800	Enhancers	Fetal Intestine Large	intestine
16	chr7:117921600-117922400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:117922000-117922200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:117922000-117922200	Weak transcription	HUVEC	blood vessel
19	chr7:117922200-117922400	Enhancers	Fetal Intestine Small	intestine
20	chr7:117922600-117925400	Weak transcription	Dnd41	blood
21	chr7:117923800-117924000	Bivalent Enhancer	Primary B cells from cord blood	blood
22	chr7:117925400-117926600	Enhancers	Dnd41	blood
23	chr7:117926000-117926800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:117926000-117927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:117926200-117927000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr7:117926400-117927200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr7:117926600-117926800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
28	chr7:117926600-117927000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr7:117926600-117927000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr7:117926600-117927000	Flanking Active TSS	Dnd41	blood
31	chr7:117926600-117929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:117926800-117927000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr7:117926800-117927600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr7:117926800-117928600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:117927000-117928000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr7:117927000-117928000	Enhancers	Dnd41	blood
37	chr7:117927000-117928600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:117927000-117929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:117927200-117928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:117927200-117929000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:117927400-117927600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:117927400-117928000	Bivalent Enhancer	Primary T cells from cord blood	blood
45	chr7:117927400-117928200	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr7:117927400-117928400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr7:117927400-117928600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:117927400-117928800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:117927400-117929000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:117927400-117931400	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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