Variant report

Variant	nsv1025049
Chromosome Location	chr7:66823977-66906930
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66843281..66844030-chr7:69396720..69397270,2	MCF-7	breast:
2	chr7:66840245..66841805-chr7:66844948..66846496,2	MCF-7	breast:
3	chr7:66842914..66843798-chr7:69396772..69397448,2	MCF-7	breast:
4	chr7:66808425..66811415-chr7:66821937..66824541,2	K562	blood:
5	chr7:66767680..66769369-chr7:66828164..66829951,2	K562	blood:
6	chr7:66843114..66843901-chr7:67089975..67090726,3	MCF-7	breast:
7	chr7:66827114..66829996-chr7:66851331..66853827,2	K562	blood:
8	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
9	chr7:66857902..66861234-chr7:66864878..66868630,3	MCF-7	breast:
10	chr7:66870283..66873220-chr7:66875254..66877293,2	K562	blood:
11	chr7:66827114..66829996-chr7:66851331..66853827,2	K562	blood:
12	chr7:66842963..66843775-chr7:69626464..69627151,2	K562	blood:
13	chr7:66641784..66642296-chr7:66836697..66837223,2	MCF-7	breast:
14	chr7:66856859..66858400-chr7:66949972..66951683,2	MCF-7	breast:
15	chr7:66840245..66841805-chr7:66844948..66846496,2	MCF-7	breast:
16	chr7:66836557..66837060-chr7:69396635..69397168,2	K562	blood:
17	chr7:66870283..66873220-chr7:66875254..66877293,2	K562	blood:
18	chr7:66857902..66861234-chr7:66864878..66868630,3	MCF-7	breast:
19	chr7:66843189..66843805-chr7:66948880..66949474,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067601	chromatin interactions

Extended variants
information (count: 2405 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2405 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4140689	chr7:66823977-66823978	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551109444	chr7:66823995-66823996	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4140690	chr7:66824003-66824004	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs192490226	chr7:66824013-66824014	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546722211	chr7:66824067-66824068	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543926736	chr7:66824109-66824110	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113518008	chr7:66824114-66824115	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558701387	chr7:66824145-66824146	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575451131	chr7:66824209-66824210	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537509138	chr7:66824222-66824223	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554652831	chr7:66824232-66824233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574496238	chr7:66824258-66824259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111327154	chr7:66824265-66824266	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559927731	chr7:66824272-66824273	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577187324	chr7:66824423-66824424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62467573	chr7:66824451-66824452	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs575408977	chr7:66824454-66824455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561408898	chr7:66824457-66824458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71565110	chr7:66824580-66824581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576346413	chr7:66824649-66824650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112501328	chr7:66824677-66824678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4717373	chr7:66824678-66824679	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs201303708	chr7:66824679-66824680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564031372	chr7:66824692-66824693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59961937	chr7:66824693-66824694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545321044	chr7:66824700-66824701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7792207	chr7:66824704-66824705	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs527599544	chr7:66824824-66824825	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540640469	chr7:66824864-66824865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550748687	chr7:66824890-66824891	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377037443	chr7:66824919-66824920	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561428592	chr7:66824968-66824969	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530172850	chr7:66824984-66824985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546954890	chr7:66824988-66824989	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566551343	chr7:66825066-66825067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113039013	chr7:66825116-66825117	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113909508	chr7:66825123-66825124	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538913066	chr7:66825178-66825179	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6978273	chr7:66825208-66825209	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs116942347	chr7:66825239-66825240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11767099	chr7:66825324-66825325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554906357	chr7:66825368-66825369	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531711833	chr7:66825378-66825379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574458713	chr7:66825470-66825471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533677742	chr7:66825486-66825487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529737434	chr7:66825531-66825532	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374433586	chr7:66825558-66825559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576928641	chr7:66825578-66825579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546078556	chr7:66825589-66825590	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562772406	chr7:66825602-66825603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66810200-66830400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:66811600-66826000	Weak transcription	Psoas Muscle	Psoas
3	chr7:66821600-66824200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr7:66822200-66824200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:66822400-66824400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:66823000-66829000	Weak transcription	Right Ventricle	heart
7	chr7:66823000-66829400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:66823000-66832200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:66823200-66824400	Weak transcription	Left Ventricle	heart
10	chr7:66823200-66829400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:66823200-66832000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:66823400-66824200	Enhancers	K562	blood
13	chr7:66823600-66825600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:66823600-66827200	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:66824200-66824600	Weak transcription	K562	blood
16	chr7:66824200-66825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:66824200-66830000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:66824600-66825200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:66824600-66825400	Enhancers	Fetal Heart	heart
20	chr7:66824600-66826800	Enhancers	K562	blood
21	chr7:66825000-66825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:66825200-66830600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:66825400-66825600	Enhancers	Placenta	Placenta
24	chr7:66825400-66829600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:66825600-66825800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:66825600-66826200	Weak transcription	Placenta	Placenta
27	chr7:66825600-66828200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:66825800-66826200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:66826000-66826200	Enhancers	Psoas Muscle	Psoas
30	chr7:66826200-66826400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:66826200-66826400	Enhancers	Placenta	Placenta
32	chr7:66826200-66826400	Weak transcription	Psoas Muscle	Psoas
33	chr7:66826400-66827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:66826400-66829400	Weak transcription	Placenta	Placenta
35	chr7:66827200-66829200	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:66827800-66828000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:66828000-66828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:66828200-66829400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:66828400-66829200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:66828800-66829400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:66829000-66829600	Enhancers	Right Ventricle	heart
42	chr7:66829200-66829400	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:66829400-66829600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:66829400-66829800	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:66829400-66829800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:66829400-66829800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:66829400-66830000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr7:66829400-66830000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:66829400-66830000	Enhancers	Placenta	Placenta
50	chr7:66829600-66829800	Weak transcription	Fetal Muscle Leg	muscle

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