Variant report

Variant	esv1797664
Chromosome Location	chr7:106930295-106964433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:106962487-106962772	K562	blood:	n/a	n/a
2	ARID3A	chr7:106960386-106961048	K562	blood:	n/a	n/a
3	ARID3A	chr7:106958955-106959760	K562	blood:	n/a	n/a
4	ARID3A	chr7:106949848-106950099	K562	blood:	n/a	n/a
5	ATF1	chr7:106962472-106962801	K562	blood:	n/a	n/a
6	ATF1	chr7:106960276-106960691	K562	blood:	n/a	n/a
7	ATF1	chr7:106958997-106959391	K562	blood:	n/a	n/a
8	ATF3	chr7:106958879-106959433	K562	blood:	n/a	n/a
9	BHLHE40	chr7:106958976-106959335	K562	blood:	n/a	n/a
10	BHLHE40	chr7:106960236-106960693	K562	blood:	n/a	n/a
11	BHLHE40	chr7:106962518-106962939	K562	blood:	n/a	n/a
12	CBX3	chr7:106960136-106960734	K562	blood:	n/a	n/a
13	CBX3	chr7:106962315-106963013	K562	blood:	n/a	n/a
14	CBX3	chr7:106958814-106959589	K562	blood:	n/a	n/a
15	CBX3	chr7:106945904-106946346	K562	blood:	n/a	n/a
16	CCNT2	chr7:106962546-106962844	K562	blood:	n/a	n/a
17	CCNT2	chr7:106959025-106959336	K562	blood:	n/a	n/a
18	CCNT2	chr7:106961281-106961473	K562	blood:	n/a	n/a
19	CCNT2	chr7:106960178-106961024	K562	blood:	n/a	n/a
20	CEBPB	chr7:106958793-106959641	K562	blood:	n/a	n/a
21	CEBPB	chr7:106960450-106960657	K562	blood:	n/a	n/a
22	CEBPB	chr7:106952849-106953212	IMR90	lung:	n/a	n/a
23	CEBPB	chr7:106962079-106962860	K562	blood:	n/a	n/a
24	CEBPB	chr7:106963145-106963176	K562	blood:	n/a	n/a
25	CEBPB	chr7:106943938-106944027	HepG2	liver:	n/a	n/a
26	CEBPB	chr7:106958979-106959321	IMR90	lung:	n/a	n/a
27	CEBPB	chr7:106962115-106962785	K562	blood:	n/a	n/a
28	CEBPB	chr7:106959885-106960161	K562	blood:	n/a	n/a
29	CEBPB	chr7:106959048-106959287	K562	blood:	n/a	n/a
30	CEBPD	chr7:106962363-106962949	K562	blood:	n/a	n/a
31	CEBPD	chr7:106960097-106961225	K562	blood:	n/a	n/a
32	CEBPD	chr7:106962318-106962884	K562	blood:	n/a	n/a
33	CEBPD	chr7:106960154-106961233	K562	blood:	n/a	n/a
34	CEBPD	chr7:106949785-106950048	K562	blood:	n/a	n/a
35	CHD2	chr7:106958972-106959345	K562	blood:	n/a	n/a
36	CREB1	chr7:106958918-106959488	K562	blood:	n/a	n/a
37	CREB1	chr7:106958761-106959561	K562	blood:	n/a	n/a
38	CREB1	chr7:106962298-106963020	K562	blood:	n/a	n/a
39	CTCF	chr7:106931870-106931999	K562	blood:	n/a	n/a
40	CTCF	chr7:106932500-106932650	GM12869	blood:	n/a	n/a
41	CTCF	chr7:106963913-106963933	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:106931940-106932090	NHEK	skin:	n/a	n/a
43	CTCF	chr7:106958640-106958646	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr7:106931952-106932068	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:106960313-106960336	MCF-7	breast:	n/a	n/a
46	CUX1	chr7:106960414-106960646	K562	blood:	n/a	n/a
47	CUX1	chr7:106959016-106959428	K562	blood:	n/a	n/a
48	EGR1	chr7:106958975-106959332	K562	blood:	n/a	n/a
49	ELF1	chr7:106958921-106959317	K562	blood:	n/a	chr7:106959069-106959082
50	ELF1	chr7:106962534-106962968	K562	blood:	n/a	chr7:106962777-106962790

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106961529..106964322-chr7:106967286..106969231,2	K562	blood:
2	chr7:106961525..106963597-chr7:106973933..106975827,2	K562	blood:
3	chr7:106956489..106959227-chr7:106962952..106965707,2	K562	blood:
4	chr7:106942508..106944552-chr7:106946505..106949146,2	MCF-7	breast:
5	chr7:106937807..106940017-chr7:106943156..106944916,2	MCF-7	breast:
6	chr7:106943945..106946694-chr7:106956421..106959648,3	K562	blood:
7	chr7:106943945..106946377-chr7:106956421..106958965,2	K562	blood:
8	chr7:106937175..106939993-chr7:106946887..106948924,2	K562	blood:
9	chr7:106951124..106952783-chr7:106959596..106961656,2	MCF-7	breast:
10	chr7:106942508..106944552-chr7:106946505..106949146,2	MCF-7	breast:
11	chr7:106951124..106952783-chr7:106959596..106961656,2	MCF-7	breast:
12	chr7:106939523..106941482-chr7:106941827..106943489,2	K562	blood:
13	chr7:106939523..106941482-chr7:106941827..106943489,2	K562	blood:
14	chr7:106937807..106940017-chr7:106943156..106944916,2	MCF-7	breast:
15	chr7:106959037..106960658-chr7:107219489..107223407,3	K562	blood:
16	chr7:106923986..106926392-chr7:106929216..106932117,2	K562	blood:
17	chr7:106943945..106946694-chr7:106956421..106959648,3	K562	blood:
18	chr7:106808462..106810785-chr7:106940399..106942038,2	MCF-7	breast:
19	chr7:106937175..106939993-chr7:106946887..106948924,2	K562	blood:
20	chr7:106943945..106946377-chr7:106956421..106958965,2	K562	blood:
21	chr7:106934661..106938675-chr7:106946887..106950206,3	K562	blood:
22	chr7:106944112..106947438-chr7:106948348..106951754,4	K562	blood:
23	chr7:106928239..106930553-chr7:106930960..106933126,2	MCF-7	breast:
24	chr7:106944112..106947438-chr7:106948348..106951754,4	K562	blood:
25	chr7:106926530..106928702-chr7:106956145..106958437,2	K562	blood:
26	chr7:106956489..106959227-chr7:106962952..106965707,2	K562	blood:
27	chr7:106928239..106930553-chr7:106930960..106933126,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221356	TF binding region
ENSG00000105856	chromatin interactions
ENSG00000075790	chromatin interactions
ENSG00000221356	chromatin interactions
ENSG00000272854	chromatin interactions

Extended variants
information (count: 1246 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550605373	chr7:106930320-106930321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552152349	chr7:106930337-106930338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571793042	chr7:106930421-106930422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534142595	chr7:106930449-106930450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140682201	chr7:106930478-106930479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144240098	chr7:106930496-106930497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372322277	chr7:106930497-106930498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574051632	chr7:106930561-106930562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536203982	chr7:106930563-106930564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111267676	chr7:106930621-106930622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78553765	chr7:106930787-106930788	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576075205	chr7:106930826-106930827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537618268	chr7:106930839-106930840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150096930	chr7:106930881-106930882	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374409779	chr7:106930953-106930954	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190282947	chr7:106930960-106930961	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540077442	chr7:106930987-106930988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560147762	chr7:106931021-106931022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75313311	chr7:106931090-106931091	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542786258	chr7:106931115-106931116	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549193590	chr7:106931125-106931126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181380891	chr7:106931164-106931165	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138672868	chr7:106931217-106931218	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142735209	chr7:106931223-106931224	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571866524	chr7:106931233-106931234	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527837412	chr7:106931268-106931269	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567602955	chr7:106931271-106931272	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547680747	chr7:106931277-106931278	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113960908	chr7:106931292-106931293	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34003894	chr7:106931293-106931294	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398111691	chr7:106931294-106931295	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567889384	chr7:106931320-106931321	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536342534	chr7:106931331-106931332	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556266963	chr7:106931339-106931340	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569699899	chr7:106931343-106931344	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538664914	chr7:106931381-106931382	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146957513	chr7:106931390-106931391	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577864328	chr7:106931393-106931394	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540383472	chr7:106931401-106931402	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553678938	chr7:106931403-106931404	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573930709	chr7:106931408-106931409	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185667064	chr7:106931468-106931469	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370193104	chr7:106931488-106931489	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138443391	chr7:106931512-106931513	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190081316	chr7:106931552-106931553	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544678559	chr7:106931588-106931589	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34702828	chr7:106931592-106931593	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375313973	chr7:106931601-106931602	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565530765	chr7:106931632-106931633	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527968252	chr7:106931634-106931635	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
2	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
3	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:106887000-106935800	Weak transcription	Small Intestine	intestine
6	chr7:106888600-106930800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:106888600-106931600	Weak transcription	Dnd41	blood
8	chr7:106888800-106930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:106888800-106932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:106888800-106933400	Weak transcription	Fetal Stomach	stomach
11	chr7:106888800-106946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:106888800-106946200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:106889000-106933400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:106889000-106934400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:106890800-106945600	Weak transcription	Aorta	Aorta
17	chr7:106891000-106931000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:106899200-106933600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:106907000-106933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:106908200-106933600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:106908600-106933000	Weak transcription	Liver	Liver
23	chr7:106909000-106932200	Weak transcription	NHEK	skin
24	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:106910200-106946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:106911000-106930400	Weak transcription	Fetal Intestine Large	intestine
27	chr7:106911000-106932000	Weak transcription	K562	blood
28	chr7:106911000-106933600	Weak transcription	Lung	lung
29	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:106911800-106946000	Weak transcription	Fetal Intestine Small	intestine
31	chr7:106912400-106934200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
33	chr7:106915800-106931000	Weak transcription	Primary T cells from cord blood	blood
34	chr7:106918000-106936000	Weak transcription	HSMMtube	muscle
35	chr7:106918000-106939000	Weak transcription	GM12878-XiMat	blood
36	chr7:106918600-106963800	Weak transcription	HSMM	muscle
37	chr7:106921200-106936400	Weak transcription	HUVEC	blood vessel
38	chr7:106921400-106946000	Weak transcription	Fetal Thymus	thymus
39	chr7:106922200-106930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:106922200-106934200	Weak transcription	Brain Angular Gyrus	brain
41	chr7:106923000-106933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:106923000-106933800	Weak transcription	Spleen	Spleen
43	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:106923200-106935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:106923400-106930600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:106923600-106930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:106923600-106930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:106923600-106933400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:106924200-106933400	Weak transcription	Primary monocytes fromperipheralblood	blood

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