Variant report

Variant	nsv511977
Chromosome Location	chr7:86834623-86837232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:86834906-86835426	K562	blood:	n/a	n/a
2	CBX3	chr7:86834158-86834729	K562	blood:	n/a	n/a
3	CBX3	chr7:86834044-86834748	K562	blood:	n/a	n/a
4	CBX3	chr7:86834949-86835445	K562	blood:	n/a	n/a
5	CTCF	chr7:86835820-86835970	RPTEC	kidney:	n/a	n/a
6	CTCF	chr7:86835200-86835243	GM10266	blood:	n/a	n/a
7	EBF1	chr7:86837163-86837171	GM12878	blood:	n/a	n/a
8	EP300	chr7:86835676-86835997	SK-N-SH_RA	brain:	n/a	n/a
9	FOS	chr7:86835821-86836059	MCF10A-Er-Src	breast:	n/a	chr7:86835913-86835924
10	FOS	chr7:86835720-86836098	HUVEC	blood vessel:	n/a	chr7:86835913-86835924
11	FOS	chr7:86835756-86836051	MCF10A-Er-Src	breast:	n/a	chr7:86835913-86835924
12	FOS	chr7:86835747-86836071	MCF10A-Er-Src	breast:	n/a	chr7:86835913-86835924
13	FOSL2	chr7:86835652-86836192	SK-N-SH	brain:	n/a	n/a
14	GATA2	chr7:86835647-86836078	HUVEC	blood vessel:	n/a	chr7:86835853-86835867
15	GATA3	chr7:86835490-86836215	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr7:86835363-86836243	SK-N-SH	brain:	n/a	n/a
17	JUND	chr7:86835551-86836477	SK-N-SH	brain:	n/a	n/a
18	KAP1	chr7:86834286-86834638	U2OS	brain:	n/a	n/a
19	KAP1	chr7:86834110-86835257	K562	blood:	n/a	n/a
20	KAP1	chr7:86834155-86834746	HEK293	kidney:	n/a	n/a
21	NFATC1	chr7:86836932-86837330	GM12878	blood:	n/a	n/a
22	PAX5	chr7:86836071-86836492	GM12878	blood:	n/a	n/a
23	PAX5	chr7:86836151-86836461	GM12892	blood:	n/a	n/a
24	PAX5	chr7:86836192-86836503	GM12878	blood:	n/a	n/a
25	PAX5	chr7:86836234-86836404	GM12878	blood:	n/a	n/a
26	PAX5	chr7:86836066-86836550	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:86835879-86836600	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:86836861-86838449	GM12892	blood:	n/a	n/a
29	POLR2A	chr7:86836192-86836397	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr7:86836207-86836414	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:86837038-86837303	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:86836090-86836424	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:86835175-86835733	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:86836130-86836141	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:86835495-86835695	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:86836238-86836390	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:86836069-86836624	GM12892	blood:	n/a	n/a
38	POLR2A	chr7:86836194-86836375	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:86836105-86836508	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:86835553-86835859	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr7:86834990-86835240	GM12891	blood:	n/a	n/a
42	POLR2A	chr7:86836972-86837296	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:86835445-86836011	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr7:86835794-86836183	GM12891	blood:	n/a	n/a
45	POLR2A	chr7:86836031-86836645	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:86835336-86836527	GM12892	blood:	n/a	n/a
47	POLR2A	chr7:86835963-86836110	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:86835433-86836685	GM12892	blood:	n/a	n/a
49	POLR2A	chr7:86835594-86835783	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr7:86835498-86835896	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86835662..86838020-chr7:86838846..86841244,3	K562	blood:
2	chr7:86567664..86570566-chr7:86835025..86837514,2	K562	blood:

Variant related genes	Relation type
TMEM243	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555923491	chr7:86834658-86834659	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192729011	chr7:86834671-86834672	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537145767	chr7:86834709-86834710	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184743243	chr7:86834750-86834751	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113326051	chr7:86834751-86834752	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367838030	chr7:86834765-86834766	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs117742735	chr7:86834768-86834769	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535522317	chr7:86834816-86834817	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs142350322	chr7:86834868-86834869	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369559392	chr7:86834892-86834893	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs112997330	chr7:86834911-86834912	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539267371	chr7:86834961-86834962	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557592094	chr7:86834964-86834965	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576290144	chr7:86834973-86834974	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187665178	chr7:86834974-86834975	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150290292	chr7:86835045-86835046	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs10238917	chr7:86835185-86835186	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574775237	chr7:86835199-86835200	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191189313	chr7:86835200-86835201	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560590333	chr7:86835266-86835267	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184816375	chr7:86835283-86835284	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141492618	chr7:86835433-86835434	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189275316	chr7:86835448-86835449	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532026652	chr7:86835458-86835459	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs550245383	chr7:86835488-86835489	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374059256	chr7:86835514-86835515	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs528906894	chr7:86835519-86835520	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181687929	chr7:86835523-86835524	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565449129	chr7:86835529-86835530	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs553721846	chr7:86835537-86835538	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs67838294	chr7:86835540-86835541	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539202089	chr7:86835581-86835582	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557528829	chr7:86835585-86835586	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150426078	chr7:86835588-86835589	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs569792823	chr7:86835615-86835616	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs537336919	chr7:86835657-86835658	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185219706	chr7:86835688-86835689	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs138038820	chr7:86835722-86835723	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs7780698	chr7:86835731-86835732	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554266794	chr7:86835744-86835745	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs149497118	chr7:86835766-86835767	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs546364272	chr7:86835772-86835773	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564690423	chr7:86835794-86835795	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs540261934	chr7:86835836-86835837	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs531842908	chr7:86835926-86835927	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs544068516	chr7:86835948-86835949	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs73210216	chr7:86835968-86835969	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528842624	chr7:86835977-86835978	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs546994751	chr7:86836012-86836013	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190117356	chr7:86836071-86836072	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86821000-86847400	Weak transcription	Stomach Mucosa	stomach
2	chr7:86822200-86841800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:86825000-86840000	Weak transcription	Ovary	ovary
4	chr7:86825600-86847400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:86825800-86843600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:86826600-86835000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:86826800-86846000	Weak transcription	Fetal Kidney	kidney
8	chr7:86826800-86848200	Weak transcription	Left Ventricle	heart
9	chr7:86828400-86848200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:86829000-86837600	Weak transcription	Fetal Heart	heart
11	chr7:86829800-86848000	Weak transcription	Right Ventricle	heart
12	chr7:86830000-86835000	Weak transcription	Fetal Lung	lung
13	chr7:86830000-86839800	Weak transcription	HSMMtube	muscle
14	chr7:86831000-86847200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:86831400-86836600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:86831600-86838400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:86831800-86838800	ZNF genes & repeats	GM12878-XiMat	blood
18	chr7:86832000-86835000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:86832000-86838000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr7:86832000-86843400	Weak transcription	NHLF	lung
21	chr7:86832200-86836000	Weak transcription	NH-A	brain
22	chr7:86832200-86840600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:86832200-86843200	Weak transcription	Osteobl	bone
24	chr7:86832200-86846000	Weak transcription	HSMM	muscle
25	chr7:86832400-86836400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:86832400-86841000	Weak transcription	Small Intestine	intestine
27	chr7:86832400-86845600	Weak transcription	Pancreas	Pancrea
28	chr7:86832400-86847200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:86832600-86835400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:86833000-86836200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr7:86833000-86836400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr7:86833000-86836600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:86833200-86835800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:86833200-86836400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr7:86833200-86836600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:86833400-86835800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:86833400-86836000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:86833400-86837200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr7:86833600-86836000	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr7:86833600-86836600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:86833800-86835000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:86833800-86836200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr7:86833800-86836400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:86833800-86836400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:86833800-86836400	ZNF genes & repeats	Thymus	Thymus
46	chr7:86833800-86841200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:86834000-86834800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr7:86834000-86835200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:86834000-86835800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:86834000-86836000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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