Variant report

Variant	nsv889091
Chromosome Location	chr7:117899190-117963926
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	chr7:117914543..117916311-chr7:117931955..117934025,2	K562	blood:
2	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
3	chr7:117916864..117919001-chr7:117920265..117922583,2	MCF-7	breast:
4	chr7:117898898..117901210-chr7:117904773..117907240,2	K562	blood:
5	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:
6	chr7:117893799..117896241-chr7:117904650..117906874,2	K562	blood:
7	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:
8	chr7:117916864..117919001-chr7:117920265..117922583,2	MCF-7	breast:
9	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
10	chr7:117896836..117898493-chr7:117900097..117902043,2	K562	blood:
11	chr7:117914543..117916311-chr7:117931955..117934025,2	K562	blood:
12	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:
13	chr7:117898898..117901210-chr7:117904773..117907240,2	K562	blood:
14	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:

No data

Extended variants
information (count: 1727 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1727 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41908	chr7:117899190-117899191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560742968	chr7:117899207-117899208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368708268	chr7:117899208-117899209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77286188	chr7:117899335-117899336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547029506	chr7:117899385-117899386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34352862	chr7:117899492-117899493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117685179	chr7:117899550-117899551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532267764	chr7:117899563-117899564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186434838	chr7:117899567-117899568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568910472	chr7:117899584-117899585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529802959	chr7:117899606-117899607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547942095	chr7:117899615-117899616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527677442	chr7:117899639-117899640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544386915	chr7:117899689-117899690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62468172	chr7:117899739-117899740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558570221	chr7:117899741-117899742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552612806	chr7:117899764-117899765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372186388	chr7:117899815-117899816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539292441	chr7:117899899-117899900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146600480	chr7:117899910-117899911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192108829	chr7:117899937-117899938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73205595	chr7:117899989-117899990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183483933	chr7:117900020-117900021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536774932	chr7:117900053-117900054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80086570	chr7:117900062-117900063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186846917	chr7:117900103-117900104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141367863	chr7:117900182-117900183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548848093	chr7:117900183-117900184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567677186	chr7:117900203-117900204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191272180	chr7:117900252-117900253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568662587	chr7:117900256-117900257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576726413	chr7:117900289-117900290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544134429	chr7:117900302-117900303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs41909	chr7:117900379-117900380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs183186033	chr7:117900386-117900387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529820190	chr7:117900403-117900404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548343099	chr7:117900419-117900420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186777249	chr7:117900433-117900434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145157921	chr7:117900444-117900445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138983502	chr7:117900579-117900580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559951399	chr7:117900642-117900643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572765370	chr7:117900661-117900662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372359444	chr7:117900684-117900685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375503464	chr7:117900686-117900687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375140326	chr7:117900693-117900694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201556627	chr7:117900723-117900724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574869204	chr7:117900726-117900727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550965336	chr7:117900732-117900733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376523975	chr7:117900737-117900738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569513188	chr7:117900747-117900748	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	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	chr7:117898800-117900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:117899600-117901200	Enhancers	Dnd41	blood
3	chr7:117900200-117900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:117901200-117904200	Weak transcription	Dnd41	blood
5	chr7:117904200-117905600	Enhancers	Dnd41	blood
6	chr7:117909200-117912000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:117914600-117915200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:117915200-117920200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:117916800-117917200	Enhancers	Dnd41	blood
10	chr7:117917200-117919600	Weak transcription	Dnd41	blood
11	chr7:117919600-117922600	Enhancers	Dnd41	blood
12	chr7:117920200-117920600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:117920200-117920600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:117920200-117921400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:117920200-117921600	Enhancers	Fetal Intestine Small	intestine
16	chr7:117920600-117921000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:117920600-117921000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:117921000-117921200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:117921000-117921200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr7:117921000-117921800	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:117921000-117922000	Enhancers	HUVEC	blood vessel
22	chr7:117921200-117921600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:117921400-117921800	Enhancers	Fetal Intestine Large	intestine
24	chr7:117921600-117922400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr7:117922000-117922200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:117922000-117922200	Weak transcription	HUVEC	blood vessel
27	chr7:117922200-117922400	Enhancers	Fetal Intestine Small	intestine
28	chr7:117922600-117925400	Weak transcription	Dnd41	blood
29	chr7:117923800-117924000	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr7:117925400-117926600	Enhancers	Dnd41	blood
31	chr7:117926000-117926800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:117926000-117927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:117926200-117927000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr7:117926400-117927200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr7:117926600-117926800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr7:117926600-117927000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr7:117926600-117927000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr7:117926600-117927000	Flanking Active TSS	Dnd41	blood
39	chr7:117926600-117929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:117926800-117927000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr7:117926800-117927600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr7:117926800-117928600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:117927000-117928000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr7:117927000-117928000	Enhancers	Dnd41	blood
45	chr7:117927000-117928600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr7:117927000-117929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:117927200-117928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:117927200-117929000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:117927400-117927600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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