Variant report

Variant	nsv609022
Chromosome Location	chr7:150811765-150812739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:150811941-150811993	GM19239	blood:	n/a	n/a
2	CTCF	chr7:150812591-150812635	GM13977	blood:	n/a	n/a
3	CTCF	chr7:150812540-150812690	GM12874	blood:	n/a	n/a
4	CTCF	chr7:150812600-150812750	GM12867	blood:	n/a	n/a
5	CTCF	chr7:150812540-150812690	AG04450	lung:	n/a	n/a
6	CTCF	chr7:150811911-150812038	IMR90	lung:	n/a	n/a
7	CTCF	chr7:150812498-150812994	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:150812540-150812690	HMEC	breast:	n/a	n/a
9	CTCF	chr7:150811640-150811790	HMEC	breast:	n/a	chr7:150811709-150811727
10	CTCF	chr7:150811941-150812052	GM13977	blood:	n/a	n/a
11	CTCF	chr7:150812591-150812678	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:150812544-150812761	IMR90	lung:	n/a	n/a
13	CTCF	chr7:150812520-150812670	GM12868	blood:	n/a	n/a
14	CTCF	chr7:150812596-150812682	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:150811921-150811994	Fibrobl	skin:	n/a	n/a
16	CTCF	chr7:150812500-150812650	GM12871	blood:	n/a	n/a
17	CTCF	chr7:150811860-150812010	GM12869	blood:	n/a	n/a
18	CTCF	chr7:150812540-150812690	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr7:150811946-150812014	LNCaP	prostate:	n/a	n/a
20	CTCF	chr7:150812609-150812667	GM10248	blood:	n/a	n/a
21	CTCF	chr7:150811964-150812044	GM10248	blood:	n/a	n/a
22	CTCF	chr7:150811840-150811990	GM12866	blood:	n/a	n/a
23	CTCF	chr7:150812599-150812686	GM19238	blood:	n/a	n/a
24	CTCF	chr7:150812520-150812670	AG04449	skin:	n/a	n/a
25	CTCF	chr7:150811924-150812024	GM12891	blood:	n/a	n/a
26	CTCF	chr7:150812560-150812710	GM12869	blood:	n/a	n/a
27	CTCF	chr7:150812540-150812690	GM12870	blood:	n/a	n/a
28	CTCF	chr7:150812520-150812670	SAEC	small airway:	n/a	n/a
29	CTCF	chr7:150812560-150812710	AG04450	lung:	n/a	n/a
30	CTCF	chr7:150812460-150812610	GM12872	blood:	n/a	n/a
31	CTCF	chr7:150811880-150812030	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr7:150812620-150812770	GM12873	blood:	n/a	n/a
33	CTCF	chr7:150812565-150812691	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr7:150811900-150812050	NHEK	skin:	n/a	n/a
35	CTCF	chr7:150812588-150812675	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr7:150812460-150812610	GM12865	blood:	n/a	n/a
37	CTCF	chr7:150811926-150811999	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:150812560-150812710	GM12871	blood:	n/a	n/a
39	CTCF	chr7:150812540-150812690	GM12866	blood:	n/a	n/a
40	CTCF	chr7:150811940-150812090	GM12865	blood:	n/a	n/a
41	EGR1	chr7:150812373-150812811	H1-hESC	embryonic stem cell:	n/a	chr7:150812594-150812608
42	EGR1	chr7:150812528-150812702	GM12878	blood:	n/a	chr7:150812594-150812608
43	EGR1	chr7:150812488-150812718	GM12878	blood:	n/a	chr7:150812594-150812608
44	EGR1	chr7:150812472-150812738	H1-hESC	embryonic stem cell:	n/a	chr7:150812594-150812608
45	ELF1	chr7:150812201-150812941	GM12878	blood:	n/a	n/a
46	FOXP2	chr7:150811506-150811806	PFSK-1	brain:	n/a	n/a
47	GABPA	chr7:150812333-150813008	H1-hESC	embryonic stem cell:	n/a	n/a
48	GABPA	chr7:150811408-150813143	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr7:150811529-150811766	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUND	chr7:150810103-150811818	SK-N-SH	brain:	n/a	chr7:150811090-150811100 chr7:150810442-150810450 chr7:150811090-150811100 chr7:150811090-150811100

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150811775-150811825	AoSMC	blood vessel:	n/a
2	chr7:150811775-150811825	T-47D	breast:	n/a
3	chr7:150812282-150812332	HCPEpiC	choroid plexus:	n/a
4	chr7:150811775-150811825	CMK	blood:	n/a
5	chr7:150812282-150812332	HPAEpiC	pulmonary alveolar:	n/a
6	chr7:150811775-150811825	HEK293	kidney:	embryo
7	chr7:150811775-150811825	SAEC	small airway:	n/a
8	chr7:150811775-150811825	NHDF-neo	bronchial:	n/a
9	chr7:150812282-150812332	NB4	blood:	n/a
10	chr7:150811775-150811825	BE2_C	brain:	n/a
11	chr7:150812282-150812332	IMR90	lung:	fetal
12	chr7:150811775-150811825	AG04450	lung:	fetal
13	chr7:150811775-150811825	HRPEpiC	eye:	n/a
14	chr7:150812282-150812332	SK-N-SH_RA	brain:	n/a
15	chr7:150812282-150812332	RPTEC	kidney:	n/a
16	chr7:150811775-150811825	PFSK-1	brain:	n/a
17	chr7:150812282-150812332	H1-hESC	embryonic stem cell:	embryo
18	chr7:150811775-150811825	Jurkat	blood:	n/a
19	chr7:150811775-150811825	GM12892	blood:	n/a
20	chr7:150811775-150811825	Caco-2	colon:	n/a
21	chr7:150812282-150812332	Hela-S3	cervix:	n/a
22	chr7:150812282-150812332	HCM	heart:	n/a
23	chr7:150812282-150812332	HNPCEpiC	eye:	n/a
24	chr7:150811775-150811825	SK-N-SH	brain:	n/a
25	chr7:150812282-150812332	HCF	heart:	n/a
26	chr7:150811775-150811825	AG09319	gingival:	n/a
27	chr7:150812282-150812332	HEEpiC	esophagus:	n/a
28	chr7:150812282-150812332	NH-A	brain:	n/a
29	chr7:150812282-150812332	GM19239	blood:	n/a
30	chr7:150811775-150811825	K562	blood:	n/a
31	chr7:150811775-150811825	LNCaP	prostate:	n/a
32	chr7:150811775-150811825	GM12891	blood:	n/a
33	chr7:150811775-150811825	HUVEC	blood vessel:	n/a
34	chr7:150812282-150812332	LNCaP	prostate:	n/a
35	chr7:150812282-150812332	HMEC	breast:	n/a
36	chr7:150812282-150812332	HIPEpiC	eye:	n/a
37	chr7:150811775-150811825	MCF10A-Er-Src	breast:	n/a
38	chr7:150812282-150812332	GM12891	blood:	n/a
39	chr7:150812282-150812332	AG04449	skin:	fetal
40	chr7:150811775-150811825	HCM	heart:	n/a
41	chr7:150812282-150812332	SK-N-SH	brain:	n/a
42	chr7:150811775-150811825	AG10803	skin:	n/a
43	chr7:150812282-150812332	SK-N-MC	brain:	n/a
44	chr7:150812282-150812332	HAEpiC	amniotic membrane:	n/a
45	chr7:150812282-150812332	BE2_C	brain:	n/a
46	chr7:150811775-150811825	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:150812282-150812332	CMK	blood:	n/a
48	chr7:150811775-150811825	AG04449	skin:	fetal
49	chr7:150811775-150811825	NHBE	bronchial:	n/a
50	chr7:150811775-150811825	HL-60	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150811800..150813328-chr7:150923060..150925511,2	MCF-7	breast:
2	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:
3	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
4	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
5	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
6	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
7	chr7:150811813..150813371-chr7:150929013..150931225,2	MCF-7	breast:
8	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
9	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000033100	chromatin interactions
ENSG00000164900	chromatin interactions
ENSG00000133612	chromatin interactions
ENSG00000033050	chromatin interactions
ENSG00000082014	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000196456	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13234429	chr7:150811765-150811766	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs559864876	chr7:150811768-150811769	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs532111259	chr7:150811844-150811845	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs186971180	chr7:150811876-150811877	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs13308269	chr7:150812290-150812291	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs13308180	chr7:150812291-150812292	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs13308234	chr7:150812392-150812393	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs568961134	chr7:150812486-150812487	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs6971966	chr7:150812493-150812494	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs183535982	chr7:150812565-150812566	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs113603956	chr7:150812583-150812584	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs186779875	chr7:150812652-150812653	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs13308357	chr7:150812660-150812661	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs13308364	chr7:150812674-150812675	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs17857291	chr7:150812683-150812684	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs553611118	chr7:150812692-150812693	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs10272090	chr7:150812739-150812740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
3	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
4	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:150808200-150813600	Weak transcription	Liver	Liver
6	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
13	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:150809000-150811800	Genic enhancers	Fetal Muscle Leg	muscle
15	chr7:150809400-150812200	Weak transcription	Dnd41	blood
16	chr7:150810200-150811800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr7:150810200-150811800	Enhancers	Placenta	Placenta
18	chr7:150810200-150811800	Enhancers	HSMMtube	muscle
19	chr7:150810200-150812000	Enhancers	HUVEC	blood vessel
20	chr7:150810400-150811800	Flanking Active TSS	NH-A	brain
21	chr7:150810400-150813000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:150810600-150811800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:150810600-150811800	Flanking Active TSS	HMEC	breast
24	chr7:150810600-150812000	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:150810600-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:150810800-150811800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:150811000-150811800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:150811000-150811800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:150811000-150811800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:150811000-150811800	Bivalent Enhancer	Fetal Brain Male	brain
31	chr7:150811000-150811800	Flanking Active TSS	Osteobl	bone
32	chr7:150811000-150812400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:150811000-150812800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:150811200-150811800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr7:150811200-150811800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:150811200-150811800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:150811200-150811800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr7:150811200-150812000	Flanking Active TSS	Colonic Mucosa	Colon
39	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
40	chr7:150811400-150811800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:150811400-150811800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:150811400-150811800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:150811400-150811800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:150811400-150811800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:150811400-150811800	Enhancers	Fetal Heart	heart
46	chr7:150811400-150811800	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:150811400-150811800	Genic enhancers	NHLF	lung
48	chr7:150811400-150812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:150811400-150812400	Active TSS	Small Intestine	intestine
50	chr7:150811400-150812800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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