Variant report

Variant	nsv1032612
Chromosome Location	chr7:126417533-126456282
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126413394..126414983-chr7:126419208..126420946,2	K562	blood:
2	7:126441098-126445427..7:126733290-126737485	H1-hESC	embryonic stem cell:	embryo
3	7:126441098-126445427..7:127233104-127239235	H1-hESC	embryonic stem cell:	embryo
4	chr7:126422481..126424555-chr7:126427314..126429258,3	K562	blood:
5	chr7:126424654..126426414-chr7:126428939..126431035,2	K562	blood:
6	chr7:126427196..126429754-chr7:126431712..126435448,3	K562	blood:
7	chr7:126443202..126443788-chr7:127087204..127087934,2	K562	blood:
8	7:126441098-126445427..7:126880504-126885902	H1-hESC	embryonic stem cell:	embryo
9	7:126441098-126445427..7:127009457-127018926	GM12878	blood:
10	7:126085913-126088095..7:126441098-126445427	GM12878	blood:
11	chr7:126443296..126443969-chr7:127154677..127155182,2	K562	blood:
12	7:126412827-126417966..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
13	chr7:126422481..126424555-chr7:126427314..126429258,3	K562	blood:
14	7:126441098-126445427..7:126756671-126761022	H1-hESC	embryonic stem cell:	embryo
15	7:126441098-126445427..7:126890676-126899918	GM12878	blood:
16	chr7:126427196..126429754-chr7:126431712..126435448,3	K562	blood:
17	7:126441098-126445427..7:126746034-126750148	H1-hESC	embryonic stem cell:	embryo
18	chr7:126443268..126443835-chr7:126450991..126451868,2	K562	blood:
19	7:126412827-126417966..7:127009457-127018926	H1-hESC	embryonic stem cell:	embryo
20	chr7:126443207..126444075-chr7:126540061..126540769,2	MCF-7	breast:
21	7:126425074-126429477..7:126751521-126752825	H1-hESC	embryonic stem cell:	embryo
22	chr7:126443268..126443835-chr7:126450991..126451868,2	K562	blood:
23	7:126445427-126453121..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
24	chr7:126442832..126443335-chr7:127154316..127155202,2	MCF-7	breast:
25	7:126085913-126088095..7:126429477-126435211	GM12878	blood:
26	chr7:126424654..126426414-chr7:126428939..126431035,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106328	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000179562	chromatin interactions
ENSG00000048405	chromatin interactions

Extended variants
information (count: 989 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80278035	chr7:126417540-126417541	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376066297	chr7:126417616-126417617	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554313631	chr7:126417748-126417749	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190445958	chr7:126417782-126417783	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543062227	chr7:126417792-126417793	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142731667	chr7:126417834-126417835	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576696260	chr7:126417859-126417860	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548426226	chr7:126417868-126417869	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192252767	chr7:126417911-126417912	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184405019	chr7:126417996-126417997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151005156	chr7:126418011-126418012	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569957363	chr7:126418035-126418036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532742435	chr7:126418097-126418098	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140844665	chr7:126418106-126418107	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559831096	chr7:126418172-126418173	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189018490	chr7:126418225-126418226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117664674	chr7:126418246-126418247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144798361	chr7:126418299-126418300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537793522	chr7:126418315-126418316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181372482	chr7:126418325-126418326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60324317	chr7:126418355-126418356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117237284	chr7:126418378-126418379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199518123	chr7:126418379-126418380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184883453	chr7:126418408-126418409	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138641726	chr7:126418409-126418410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376144976	chr7:126418426-126418427	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10240031	chr7:126418466-126418467	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189345663	chr7:126418467-126418468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141302370	chr7:126418532-126418533	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574849184	chr7:126418539-126418540	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs72121048	chr7:126418542-126418543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576668798	chr7:126418591-126418592	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs180702722	chr7:126418624-126418625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565581682	chr7:126418667-126418668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145053624	chr7:126418673-126418674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77117390	chr7:126418723-126418724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187182233	chr7:126418752-126418753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527419479	chr7:126418818-126418819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569833365	chr7:126418823-126418824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368670296	chr7:126418895-126418896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548561794	chr7:126418961-126418962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146091672	chr7:126418969-126418970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560597706	chr7:126418970-126418971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558474093	chr7:126418980-126418981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75946440	chr7:126418991-126418992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549768657	chr7:126419015-126419016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571535768	chr7:126419024-126419025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571876246	chr7:126419041-126419042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13236604	chr7:126419044-126419045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149346587	chr7:126419077-126419078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126416800-126419200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:126417000-126418800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:126417400-126418000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:126417400-126418800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:126417400-126418800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:126417400-126419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:126418000-126418200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:126418000-126418600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:126418000-126419000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:126418200-126418400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:126418200-126418600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:126418200-126418600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:126418200-126418800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:126418400-126418600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:126418800-126420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:126419000-126420600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:126420400-126420800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:126420600-126420800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:126420600-126420800	Enhancers	Esophagus	oesophagus
20	chr7:126420600-126421000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:126420600-126421000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:126420800-126421400	Enhancers	GM12878-XiMat	blood
23	chr7:126420800-126424200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:126422800-126423200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:126428800-126429200	Enhancers	Brain Hippocampus Middle	brain
26	chr7:126428800-126429400	Enhancers	Brain Substantia Nigra	brain
27	chr7:126429000-126429600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:126429200-126431400	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:126429400-126429800	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:126429400-126431400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:126429600-126430800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:126429800-126431400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:126430800-126432600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:126430800-126432600	Enhancers	Brain Anterior Caudate	brain
35	chr7:126430800-126433400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:126430800-126433800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:126431000-126433600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:126431200-126432000	Enhancers	HMEC	breast
39	chr7:126431400-126432400	Enhancers	Brain Hippocampus Middle	brain
40	chr7:126431400-126432400	Enhancers	Brain Substantia Nigra	brain
41	chr7:126431400-126433800	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:126431800-126433200	Enhancers	Brain Angular Gyrus	brain
43	chr7:126432000-126433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:126432400-126432800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:126432400-126433200	Active TSS	Brain Hippocampus Middle	brain
46	chr7:126432400-126433200	Active TSS	Brain Substantia Nigra	brain
47	chr7:126432600-126433000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr7:126432600-126433200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:126433000-126433200	Enhancers	Brain Anterior Caudate	brain
50	chr7:126433200-126433400	Enhancers	Brain Hippocampus Middle	brain

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