Variant report

Variant	nsv967462
Chromosome Location	chr7:86520074-86528959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:86524353-86524490	K562	blood:	n/a	n/a
2	BACH1	chr7:86525987-86526057	K562	blood:	n/a	n/a
3	CUX1	chr7:86521286-86521350	GM12878	blood:	n/a	n/a
4	E2F4	chr7:86526620-86526794	MCF10A-Er-Src	breast:	n/a	n/a
5	JUN	chr7:86528393-86528588	K562	blood:	n/a	n/a
6	MAFK	chr7:86523563-86524046	HepG2	liver:	n/a	n/a
7	MXI1	chr7:86526200-86526221	K562	blood:	n/a	n/a
8	POLR2A	chr7:86527233-86527432	K562	blood:	n/a	n/a
9	POLR2A	chr7:86523025-86523218	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:86522896-86523030	K562	blood:	n/a	n/a
11	POLR2A	chr7:86524434-86524885	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:86523941-86524172	K562	blood:	n/a	n/a
13	POLR2A	chr7:86522938-86522985	K562	blood:	n/a	n/a
14	POLR2A	chr7:86528222-86528281	GM12878	blood:	n/a	n/a
15	PRDM1	chr7:86525971-86526093	Hela-S3	cervix:	n/a	chr7:86526072-86526087
16	STAT3	chr7:86520805-86520880	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr7:86528839-86528846	MCF10A-Er-Src	breast:	n/a	n/a
18	TBL1XR1	chr7:86525721-86525777	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86528126..86530451-chr7:86536188..86537895,2	MCF-7	breast:
2	chr7:86522137..86524463-chr7:86527118..86529115,2	K562	blood:
3	chr7:86494378..86496895-chr7:86524387..86526363,2	K562	blood:
4	chr7:86521834..86523637-chr7:86527118..86529794,2	K562	blood:

No data

Variant related genes	Relation type
KIAA1324L	TF binding region
ENSG00000164659	chromatin interactions

Extended variants
information (count: 318 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188352132	chr7:86520120-86520121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78227111	chr7:86520154-86520155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543985408	chr7:86520161-86520162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562183242	chr7:86520163-86520164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574144453	chr7:86520234-86520235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3057439	chr7:86520261-86520262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541524748	chr7:86520265-86520266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377504745	chr7:86520267-86520268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560081643	chr7:86520328-86520329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533172595	chr7:86520329-86520330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552487392	chr7:86520366-86520367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564185990	chr7:86520379-86520380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572318972	chr7:86520401-86520402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531406351	chr7:86520407-86520408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75342662	chr7:86520484-86520485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67680323	chr7:86520514-86520515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59380685	chr7:86520515-86520516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567831603	chr7:86520521-86520522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143416970	chr7:86520590-86520591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564329410	chr7:86520694-86520695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180916981	chr7:86520700-86520701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184936129	chr7:86520701-86520702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565709498	chr7:86520758-86520759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368666834	chr7:86520762-86520763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531651241	chr7:86520763-86520764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146716218	chr7:86520776-86520777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558429741	chr7:86520805-86520806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140430195	chr7:86520854-86520855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537655544	chr7:86520878-86520879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4728652	chr7:86520894-86520895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145515233	chr7:86520910-86520911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541587857	chr7:86520918-86520919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559585737	chr7:86520921-86520922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549876944	chr7:86520927-86520928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192065618	chr7:86520945-86520946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545029319	chr7:86520955-86520956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151007085	chr7:86520960-86520961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531468846	chr7:86520962-86520963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370544755	chr7:86521002-86521003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200730802	chr7:86521007-86521008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140746958	chr7:86521044-86521045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529044207	chr7:86521074-86521075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151266637	chr7:86521091-86521092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117082571	chr7:86521099-86521100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199903997	chr7:86521107-86521108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140842262	chr7:86521143-86521144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532961961	chr7:86521145-86521146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372925826	chr7:86521156-86521157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377408534	chr7:86521163-86521164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370763886	chr7:86521172-86521173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86481400-86525800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:86495200-86542000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:86495800-86550000	Weak transcription	Lung	lung
4	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:86503800-86526600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:86504000-86521600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:86506600-86526400	Weak transcription	Left Ventricle	heart
8	chr7:86507000-86553200	Weak transcription	Pancreas	Pancrea
9	chr7:86507400-86561400	Weak transcription	Aorta	Aorta
10	chr7:86507600-86520200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:86507600-86525600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:86508000-86551200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:86508000-86560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:86508400-86520400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:86508400-86525600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:86508800-86542200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:86510800-86526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:86510800-86543800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:86512600-86545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:86513200-86528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:86516000-86520200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:86516000-86556400	Weak transcription	Fetal Stomach	stomach
24	chr7:86517000-86541000	Weak transcription	HUVEC	blood vessel
25	chr7:86517200-86521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:86517200-86532800	Weak transcription	Right Ventricle	heart
27	chr7:86517600-86528200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:86517800-86523000	Strong transcription	Adipose Nuclei	Adipose
29	chr7:86518000-86520600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:86518000-86529000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:86518000-86568800	Weak transcription	Psoas Muscle	Psoas
32	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:86518200-86521600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:86518200-86522600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:86518200-86529200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:86518600-86521200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:86518600-86527000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:86518600-86528800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:86518600-86542800	Weak transcription	K562	blood
40	chr7:86519800-86525600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:86520000-86521400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:86520200-86520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:86520200-86521000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:86520400-86520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:86520400-86522400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:86520600-86522600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:86520600-86522600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:86520800-86528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:86521000-86522800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:86521000-86523200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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