Variant report

Variant	nsv1016955
Chromosome Location	chr8:43420805-43786790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1324)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:43785555-43785668	K562	blood:	n/a	n/a
2	ATF1	chr8:43786577-43787136	K562	blood:	n/a	n/a
3	BACH1	chr8:43572418-43572443	K562	blood:	n/a	n/a
4	BACH1	chr8:43717526-43717725	K562	blood:	n/a	n/a
5	BACH1	chr8:43779446-43779599	K562	blood:	n/a	n/a
6	BACH1	chr8:43654724-43654750	K562	blood:	n/a	n/a
7	BATF	chr8:43764727-43764995	GM12878	blood:	n/a	n/a
8	BATF	chr8:43785488-43786069	GM12878	blood:	n/a	n/a
9	BATF	chr8:43772038-43772467	GM12878	blood:	n/a	n/a
10	BATF	chr8:43778905-43779151	GM12878	blood:	n/a	n/a
11	BATF	chr8:43760280-43760716	GM12878	blood:	n/a	n/a
12	BATF	chr8:43761208-43761764	GM12878	blood:	n/a	n/a
13	BATF	chr8:43771245-43771622	GM12878	blood:	n/a	n/a
14	BATF	chr8:43771212-43771629	GM12878	blood:	n/a	n/a
15	BATF	chr8:43782910-43783364	GM12878	blood:	n/a	n/a
16	BATF	chr8:43760193-43760718	GM12878	blood:	n/a	n/a
17	BATF	chr8:43759902-43760143	GM12878	blood:	n/a	n/a
18	BATF	chr8:43770392-43770728	GM12878	blood:	n/a	n/a
19	BATF	chr8:43785460-43785804	GM12878	blood:	n/a	n/a
20	BATF	chr8:43776273-43776586	GM12878	blood:	n/a	n/a
21	BATF	chr8:43781687-43781911	GM12878	blood:	n/a	n/a
22	BATF	chr8:43761295-43761752	GM12878	blood:	n/a	n/a
23	BATF	chr8:43771808-43772466	GM12878	blood:	n/a	n/a
24	BATF	chr8:43760917-43761158	GM12878	blood:	n/a	n/a
25	BATF	chr8:43781686-43781952	GM12878	blood:	n/a	n/a
26	BATF	chr8:43783610-43783797	GM12878	blood:	n/a	n/a
27	BATF	chr8:43783535-43783800	GM12878	blood:	n/a	n/a
28	BCL11A	chr8:43760267-43760707	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:43782626-43783058	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:43760155-43760933	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:43785334-43785462	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:43783542-43783935	GM12878	blood:	n/a	n/a
33	BCL11A	chr8:43759939-43760150	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:43771195-43771641	GM12878	blood:	n/a	n/a
35	BCL11A	chr8:43771282-43771511	GM12878	blood:	n/a	n/a
36	BCL11A	chr8:43761170-43762049	GM12878	blood:	n/a	n/a
37	BCL11A	chr8:43785511-43785821	GM12878	blood:	n/a	n/a
38	BCL11A	chr8:43778827-43779220	GM12878	blood:	n/a	n/a
39	BCL11A	chr8:43761282-43761722	GM12878	blood:	n/a	n/a
40	BCL11A	chr8:43783550-43783791	GM12878	blood:	n/a	n/a
41	BCL11A	chr8:43785261-43786095	GM12878	blood:	n/a	n/a
42	BCL11A	chr8:43771913-43772498	GM12878	blood:	n/a	n/a
43	BCL11A	chr8:43785837-43785995	GM12878	blood:	n/a	n/a
44	BCL11A	chr8:43781665-43782001	GM12878	blood:	n/a	n/a
45	BCL11A	chr8:43772033-43772507	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:43785395-43786091	HepG2	liver:	n/a	n/a
47	BHLHE40	chr8:43760154-43760786	HepG2	liver:	n/a	n/a
48	BHLHE40	chr8:43654723-43654750	K562	blood:	n/a	n/a
49	BHLHE40	chr8:43779571-43779620	K562	blood:	n/a	n/a
50	BHLHE40	chr8:43781634-43781923	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:63385860..63386443-chr8:43553599..43554374,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF170-9	chr8:43529413-43529734	NONHSAT126368
2	lnc-HGSNAT-12	chr8:43527966-43528218	NONHSAT126367

No data

Variant related genes	Relation type
ENSG00000253845	TF binding region
ENSG00000253198	TF binding region

Extended variants
information (count: 21488 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:21488 , 50 per page) page: 1 2 3 4 5 6 7 ... 430

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73675596	chr8:43420824-43420825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140875872	chr8:43420825-43420826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs569235312	chr8:43420830-43420831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7463484	chr8:43420832-43420833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544493577	chr8:43420836-43420837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181435624	chr8:43420865-43420866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185919105	chr8:43420936-43420937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534407649	chr8:43420984-43420985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547968462	chr8:43420986-43420987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567369446	chr8:43421043-43421044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191715838	chr8:43421049-43421050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144821621	chr8:43421051-43421052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575975181	chr8:43421097-43421098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375157350	chr8:43421111-43421112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538582839	chr8:43421121-43421122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78104275	chr8:43421156-43421157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571976173	chr8:43421162-43421163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs540836279	chr8:43421182-43421183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147911345	chr8:43421183-43421184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574100609	chr8:43421260-43421261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73569648	chr8:43421264-43421265	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562778271	chr8:43421305-43421306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181370547	chr8:43421315-43421316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs540178926	chr8:43421321-43421322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565585038	chr8:43421349-43421350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527939491	chr8:43421350-43421351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148951736	chr8:43421351-43421352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567849767	chr8:43421378-43421379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535997979	chr8:43421389-43421390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370325550	chr8:43421392-43421393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569621814	chr8:43421397-43421398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35790288	chr8:43421423-43421424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538645439	chr8:43421433-43421434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558091173	chr8:43421445-43421446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553480043	chr8:43421472-43421473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572012749	chr8:43421477-43421478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs540965123	chr8:43421501-43421502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562742937	chr8:43421506-43421507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554386445	chr8:43421524-43421525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75391392	chr8:43421534-43421535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs577874682	chr8:43421544-43421545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs202106375	chr8:43421579-43421580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186517398	chr8:43421607-43421608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564489772	chr8:43421649-43421650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565274685	chr8:43421653-43421654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190882821	chr8:43421659-43421660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182594659	chr8:43421666-43421667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561349769	chr8:43421680-43421681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530338268	chr8:43421720-43421721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545672076	chr8:43421721-43421722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Seminomas	18059402	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43415400-43427200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:43416400-43427200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:43417400-43421000	ZNF genes & repeats	Fetal Stomach	stomach
4	chr8:43417800-43422800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr8:43418800-43423600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:43419600-43421400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr8:43419600-43422400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
8	chr8:43420400-43421000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:43420400-43421000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr8:43420400-43423600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
11	chr8:43422800-43425800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr8:43423800-43427400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr8:43424600-43426200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr8:43426800-43430800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:43427600-43428400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr8:43429200-43430000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr8:43429400-43430600	ZNF genes & repeats	Liver	Liver
18	chr8:43434000-43435000	ZNF genes & repeats	Liver	Liver
19	chr8:43434000-43454200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:43436400-43436800	ZNF genes & repeats	Liver	Liver
21	chr8:43439800-43443800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr8:43441000-43453800	ZNF genes & repeats	Liver	Liver
23	chr8:43442400-43446800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr8:43444000-43445000	Weak transcription	Adipose Nuclei	Adipose
25	chr8:43444800-43453600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:43445000-43449800	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr8:43446800-43447200	Active TSS	Right Atrium	heart
28	chr8:43451000-43453600	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr8:43451200-43451800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:43451400-43453400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:43451800-43452800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:43452800-43458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:43453400-43462000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr8:43455800-43456800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:43458000-43458800	ZNF genes & repeats	Liver	Liver
36	chr8:43458200-43460600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:43458400-43458600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:43462600-43466400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:43462600-43473600	ZNF genes & repeats	Liver	Liver
40	chr8:43463400-43464600	Active TSS	Right Atrium	heart
41	chr8:43469800-43474800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr8:43470200-43472000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr8:43470400-43471400	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr8:43473000-43480000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:43474200-43475600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr8:43475200-43480400	ZNF genes & repeats	Liver	Liver
47	chr8:43476600-43479800	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr8:43477000-43480000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr8:43477400-43478400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr8:43478200-43479600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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