Variant report

Variant	esv3478068
Chromosome Location	chr7:128209147-128216052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:128215390-128215586	K562	blood:	n/a	n/a
2	CEBPB	chr7:128215356-128215597	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:128215391-128215634	MCF-7	breast:	n/a	n/a
4	CEBPB	chr7:128215373-128215559	K562	blood:	n/a	n/a
5	CTCF	chr7:128213060-128213210	GM12869	blood:	n/a	n/a
6	HEY1	chr7:128210213-128210698	K562	blood:	n/a	n/a
7	HEY1	chr7:128210354-128210625	HepG2	liver:	n/a	n/a
8	MAFF	chr7:128212120-128212233	HepG2	liver:	n/a	n/a
9	MAFK	chr7:128212054-128212261	IMR90	lung:	n/a	n/a
10	MAFK	chr7:128212049-128212302	HepG2	liver:	n/a	n/a
11	MAFK	chr7:128212110-128212242	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:128214932-128215302	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:128215101-128215144	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:128213341-128213354	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:128210254-128210695	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:128213930-128214275	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:128215022-128215102	K562	blood:	n/a	n/a
18	POLR2A	chr7:128210299-128210751	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:128213145-128213335	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:128214103-128214142	ProgFib	skin:	n/a	n/a
21	POLR2A	chr7:128210361-128210574	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:128210271-128210478	GM12878	blood:	n/a	n/a
23	POU2F2	chr7:128210225-128210604	GM12878	blood:	n/a	n/a
24	ZBTB33	chr7:128210092-128210727	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000213280	TF binding region

Extended variants
information (count: 284 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375220321	chr7:128209164-128209165	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7797879	chr7:128209167-128209168	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs56400919	chr7:128209176-128209177	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7780962	chr7:128209179-128209180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186593077	chr7:128209232-128209233	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11770718	chr7:128209235-128209236	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7798172	chr7:128209356-128209357	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs111379681	chr7:128209450-128209451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574373050	chr7:128209490-128209491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376773153	chr7:128209498-128209499	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535061071	chr7:128209518-128209519	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190340554	chr7:128209535-128209536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575499309	chr7:128209537-128209538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546112895	chr7:128209560-128209561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182601434	chr7:128209561-128209562	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371383586	chr7:128209641-128209642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368274120	chr7:128209659-128209660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537728877	chr7:128209695-128209696	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569700296	chr7:128209724-128209725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573137589	chr7:128209766-128209767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540322493	chr7:128209835-128209836	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12670823	chr7:128209858-128209859	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs202163912	chr7:128209887-128209888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566972539	chr7:128209889-128209890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200497732	chr7:128209890-128209891	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57633856	chr7:128209891-128209892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79202387	chr7:128209892-128209893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529396739	chr7:128209897-128209898	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375127934	chr7:128209908-128209909	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138388717	chr7:128209942-128209943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562920071	chr7:128209943-128209944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555602936	chr7:128209969-128209970	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186938017	chr7:128209987-128209988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191402139	chr7:128209988-128209989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570650132	chr7:128209999-128210000	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541276941	chr7:128210039-128210040	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141094535	chr7:128210040-128210041	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184086943	chr7:128210044-128210045	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568024839	chr7:128210051-128210052	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10808232	chr7:128210052-128210053	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs58210776	chr7:128210084-128210085	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs189069919	chr7:128210128-128210129	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10954190	chr7:128210131-128210132	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558072838	chr7:128210160-128210161	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573101070	chr7:128210184-128210185	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540429201	chr7:128210185-128210186	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578262185	chr7:128210186-128210187	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577759783	chr7:128210235-128210236	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75508198	chr7:128210238-128210239	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77436028	chr7:128210254-128210255	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:128172600-128214800	Weak transcription	Gastric	stomach
3	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
4	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
5	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
6	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:128174000-128210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:128174000-128220600	Weak transcription	NHLF	lung
11	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
14	chr7:128176000-128214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:128177600-128231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:128179200-128231800	Weak transcription	Esophagus	oesophagus
17	chr7:128181800-128231800	Weak transcription	Aorta	Aorta
18	chr7:128183000-128214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:128183400-128214800	Weak transcription	HUVEC	blood vessel
20	chr7:128183600-128214800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:128185000-128210600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:128185200-128210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:128187400-128212400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:128187400-128214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:128187400-128214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:128187600-128213800	Weak transcription	Osteobl	bone
27	chr7:128187600-128214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:128187600-128232000	Weak transcription	NH-A	brain
29	chr7:128187800-128214800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:128188000-128210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:128188000-128213800	Weak transcription	Brain Anterior Caudate	brain
32	chr7:128188000-128213800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:128188000-128214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:128188000-128214800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:128188000-128215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:128188000-128215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:128188000-128220800	Weak transcription	NHEK	skin
38	chr7:128188000-128232800	Weak transcription	Fetal Brain Female	brain
39	chr7:128188200-128215000	Weak transcription	Hela-S3	cervix
40	chr7:128188200-128229800	Weak transcription	HSMM	muscle
41	chr7:128188400-128210000	Weak transcription	Placenta	Placenta
42	chr7:128188400-128210400	Weak transcription	Primary B cells from cord blood	blood
43	chr7:128188400-128210400	Weak transcription	Fetal Lung	lung
44	chr7:128188400-128210600	Weak transcription	Spleen	Spleen
45	chr7:128188400-128212400	Weak transcription	Lung	lung
46	chr7:128188400-128214800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:128188400-128230800	Weak transcription	Primary T cells from cord blood	blood
48	chr7:128188400-128231200	Weak transcription	Pancreas	Pancrea
49	chr7:128188600-128210400	Weak transcription	Fetal Thymus	thymus
50	chr7:128188600-128210600	Weak transcription	Primary hematopoietic stem cells	blood

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