Variant report

Variant	nsv966884
Chromosome Location	chr7:128210294-128212815
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	HEY1	chr7:128210354-128210625	HepG2	liver:	n/a	n/a
2	HEY1	chr7:128210213-128210698	K562	blood:	n/a	n/a
3	MAFF	chr7:128212120-128212233	HepG2	liver:	n/a	n/a
4	MAFK	chr7:128212054-128212261	IMR90	lung:	n/a	n/a
5	MAFK	chr7:128212110-128212242	HepG2	liver:	n/a	n/a
6	MAFK	chr7:128212049-128212302	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:128210254-128210695	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:128210361-128210574	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:128210271-128210478	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:128210299-128210751	GM12878	blood:	n/a	n/a
11	POU2F2	chr7:128210225-128210604	GM12878	blood:	n/a	n/a
12	ZBTB33	chr7:128210092-128210727	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213280	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193022600	chr7:128210309-128210310	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113702966	chr7:128210320-128210321	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs185367847	chr7:128210325-128210326	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188846566	chr7:128210330-128210331	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533405250	chr7:128210372-128210373	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113342100	chr7:128210378-128210379	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546115320	chr7:128210407-128210408	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191825818	chr7:128210429-128210430	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528405663	chr7:128210449-128210450	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546444356	chr7:128210456-128210457	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568268584	chr7:128210481-128210482	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528961239	chr7:128210482-128210483	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550688157	chr7:128210503-128210504	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183950586	chr7:128210523-128210524	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539094924	chr7:128210537-128210538	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557338486	chr7:128210578-128210579	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528908694	chr7:128210610-128210611	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12539361	chr7:128210643-128210644	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs201660766	chr7:128210684-128210685	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386717721	chr7:128210685-128210686	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200185648	chr7:128210686-128210687	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55946993	chr7:128210687-128210688	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188327941	chr7:128210721-128210722	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375056466	chr7:128210734-128210735	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376063532	chr7:128210735-128210736	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556740544	chr7:128210742-128210743	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs578146215	chr7:128210746-128210747	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs56111366	chr7:128210789-128210790	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs139899156	chr7:128210791-128210792	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573026576	chr7:128210837-128210838	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145430445	chr7:128210870-128210871	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561719825	chr7:128210872-128210873	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529129442	chr7:128210873-128210874	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28496126	chr7:128210898-128210899	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs55860694	chr7:128210911-128210912	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs117960889	chr7:128210919-128210920	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550932827	chr7:128210997-128210998	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551492850	chr7:128210999-128211000	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180897734	chr7:128211000-128211001	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534210182	chr7:128211005-128211006	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185783637	chr7:128211062-128211063	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12537208	chr7:128211078-128211079	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs62483342	chr7:128211085-128211086	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs4731483	chr7:128211127-128211128	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181992508	chr7:128211170-128211171	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539158001	chr7:128211202-128211203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554187143	chr7:128211219-128211220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375245405	chr7:128211286-128211287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115327698	chr7:128211293-128211294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12386692	chr7:128211323-128211324	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:181 , 50 per page) page: 1 2 3 4

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	chr7:128187400-128212400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:128187400-128214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:128187400-128214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:128187600-128213800	Weak transcription	Osteobl	bone
26	chr7:128187600-128214400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:128187600-128232000	Weak transcription	NH-A	brain
28	chr7:128187800-128214800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:128188000-128210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:128188000-128213800	Weak transcription	Brain Anterior Caudate	brain
31	chr7:128188000-128213800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:128188000-128214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:128188000-128214800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:128188000-128215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:128188000-128215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:128188000-128220800	Weak transcription	NHEK	skin
37	chr7:128188000-128232800	Weak transcription	Fetal Brain Female	brain
38	chr7:128188200-128215000	Weak transcription	Hela-S3	cervix
39	chr7:128188200-128229800	Weak transcription	HSMM	muscle
40	chr7:128188400-128210400	Weak transcription	Primary B cells from cord blood	blood
41	chr7:128188400-128210400	Weak transcription	Fetal Lung	lung
42	chr7:128188400-128210600	Weak transcription	Spleen	Spleen
43	chr7:128188400-128212400	Weak transcription	Lung	lung
44	chr7:128188400-128214800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:128188400-128230800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:128188400-128231200	Weak transcription	Pancreas	Pancrea
47	chr7:128188600-128210400	Weak transcription	Fetal Thymus	thymus
48	chr7:128188600-128210600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:128188600-128213800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:128188800-128231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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