Variant report

Variant	nsv609032
Chromosome Location	chr7:150812042-150812845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:150812609-150812667	GM10248	blood:	n/a	n/a
2	CTCF	chr7:150812560-150812710	GM12869	blood:	n/a	n/a
3	CTCF	chr7:150812544-150812761	IMR90	lung:	n/a	n/a
4	CTCF	chr7:150812520-150812670	GM12868	blood:	n/a	n/a
5	CTCF	chr7:150812620-150812770	GM12873	blood:	n/a	n/a
6	CTCF	chr7:150812588-150812675	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr7:150812500-150812650	GM12871	blood:	n/a	n/a
8	CTCF	chr7:150812460-150812610	GM12872	blood:	n/a	n/a
9	CTCF	chr7:150812591-150812678	LNCaP	prostate:	n/a	n/a
10	CTCF	chr7:150812820-150812970	HMEC	breast:	n/a	n/a
11	CTCF	chr7:150812520-150812670	AG04449	skin:	n/a	n/a
12	CTCF	chr7:150812565-150812691	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr7:150812780-150812930	HCM	heart:	n/a	n/a
14	CTCF	chr7:150812498-150812994	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:150812801-150812935	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:150811964-150812044	GM10248	blood:	n/a	n/a
17	CTCF	chr7:150812596-150812682	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr7:150812540-150812690	HMEC	breast:	n/a	n/a
19	CTCF	chr7:150812560-150812710	AG04450	lung:	n/a	n/a
20	CTCF	chr7:150812760-150812910	HFF	foreskin:	n/a	n/a
21	CTCF	chr7:150812540-150812690	GM12866	blood:	n/a	n/a
22	CTCF	chr7:150812520-150812670	SAEC	small airway:	n/a	n/a
23	CTCF	chr7:150812540-150812690	GM12870	blood:	n/a	n/a
24	CTCF	chr7:150812540-150812690	GM12874	blood:	n/a	n/a
25	CTCF	chr7:150812599-150812686	GM19238	blood:	n/a	n/a
26	CTCF	chr7:150812600-150812750	GM12867	blood:	n/a	n/a
27	CTCF	chr7:150811941-150812052	GM13977	blood:	n/a	n/a
28	CTCF	chr7:150812840-150812990	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr7:150812591-150812635	GM13977	blood:	n/a	n/a
30	CTCF	chr7:150812760-150812910	SAEC	small airway:	n/a	n/a
31	CTCF	chr7:150812560-150812710	GM12871	blood:	n/a	n/a
32	CTCF	chr7:150811900-150812050	NHEK	skin:	n/a	n/a
33	CTCF	chr7:150812460-150812610	GM12865	blood:	n/a	n/a
34	CTCF	chr7:150811940-150812090	GM12865	blood:	n/a	n/a
35	CTCF	chr7:150812540-150812690	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr7:150812540-150812690	AG04450	lung:	n/a	n/a
37	EGR1	chr7:150812373-150812811	H1-hESC	embryonic stem cell:	n/a	chr7:150812594-150812608
38	EGR1	chr7:150812472-150812738	H1-hESC	embryonic stem cell:	n/a	chr7:150812594-150812608
39	EGR1	chr7:150812488-150812718	GM12878	blood:	n/a	chr7:150812594-150812608
40	EGR1	chr7:150812528-150812702	GM12878	blood:	n/a	chr7:150812594-150812608
41	ELF1	chr7:150812201-150812941	GM12878	blood:	n/a	n/a
42	GABPA	chr7:150811408-150813143	H1-hESC	embryonic stem cell:	n/a	n/a
43	GABPA	chr7:150812333-150813008	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr7:150812841-150813727	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr7:150812795-150813671	ECC-1	luminal epithelium:	n/a	n/a
46	PAX5	chr7:150812314-150812642	GM12892	blood:	n/a	n/a
47	POLR2A	chr7:150812398-150812418	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:150812256-150812689	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr7:150812786-150812928	K562	blood:	n/a	n/a
50	POLR2A	chr7:150812203-150812824	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150812282-150812332	AG04450	lung:	fetal
2	chr7:150812282-150812332	SK-N-SH	brain:	n/a
3	chr7:150812282-150812332	U87	brain:	n/a
4	chr7:150812282-150812332	HUVEC	blood vessel:	n/a
5	chr7:150812282-150812332	BE2_C	brain:	n/a
6	chr7:150812282-150812332	NT2-D1	testis:	n/a
7	chr7:150812282-150812332	MCF-7	breast:	n/a
8	chr7:150812282-150812332	MCF10A-Er-Src	breast:	n/a
9	chr7:150812282-150812332	HIPEpiC	eye:	n/a
10	chr7:150812282-150812332	ovcar-3	ovarian:	n/a
11	chr7:150812282-150812332	ECC-1	luminal epithelium:	n/a
12	chr7:150812282-150812332	HepG2	liver:	n/a
13	chr7:150812282-150812332	CMK	blood:	n/a
14	chr7:150812282-150812332	HL-60	blood:	n/a
15	chr7:150812282-150812332	AG09319	gingival:	n/a
16	chr7:150812282-150812332	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:150812282-150812332	AG09309	skin:	n/a
18	chr7:150812282-150812332	HMEC	breast:	n/a
19	chr7:150812282-150812332	H1-hESC	embryonic stem cell:	embryo
20	chr7:150812282-150812332	LNCaP	prostate:	n/a
21	chr7:150812282-150812332	HEK293	kidney:	embryo
22	chr7:150812282-150812332	Caco-2	colon:	n/a
23	chr7:150812282-150812332	GM12878	blood:	n/a
24	chr7:150812282-150812332	PANC-1	pancreas:	n/a
25	chr7:150812282-150812332	HRE	kidney:	n/a
26	chr7:150812282-150812332	K562	blood:	n/a
27	chr7:150812282-150812332	HRCEpiC	kidney:	n/a
28	chr7:150812282-150812332	SAEC	small airway:	n/a
29	chr7:150812282-150812332	GM12891	blood:	n/a
30	chr7:150812282-150812332	HCPEpiC	choroid plexus:	n/a
31	chr7:150812282-150812332	A549	lung:	n/a
32	chr7:150812282-150812332	SK-N-MC	brain:	n/a
33	chr7:150812282-150812332	GM06990	blood:	n/a
34	chr7:150812282-150812332	SKMC	muscle:	n/a
35	chr7:150812282-150812332	HCT-116	colon:	n/a
36	chr7:150812282-150812332	SK-N-SH_RA	brain:	n/a
37	chr7:150812282-150812332	HEEpiC	esophagus:	n/a
38	chr7:150812282-150812332	HAEpiC	amniotic membrane:	n/a
39	chr7:150812282-150812332	T-47D	breast:	n/a
40	chr7:150812282-150812332	NH-A	brain:	n/a
41	chr7:150812282-150812332	AG10803	skin:	n/a
42	chr7:150812282-150812332	PrEC	prostate:	n/a
43	chr7:150812282-150812332	AG04449	skin:	fetal
44	chr7:150812282-150812332	Hepatocyte	liver:	n/a
45	chr7:150812282-150812332	BJ	skin:	n/a
46	chr7:150812282-150812332	IMR90	lung:	fetal
47	chr7:150812282-150812332	ProgFib	skin:	n/a
48	chr7:150812282-150812332	Hela-S3	cervix:	n/a
49	chr7:150812282-150812332	HCF	heart:	n/a
50	chr7:150812282-150812332	HRPEpiC	eye:	n/a

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

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

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	rs10242437	chr7:150812787-150812788	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
15	rs558574635	chr7:150812795-150812796	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	rs575287583	chr7:150812796-150812797	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	rs544309696	chr7:150812799-150812800	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
18	rs199698187	chr7:150812831-150812832	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	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:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
2	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
3	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:150808200-150813600	Weak transcription	Liver	Liver
5	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:150809400-150812200	Weak transcription	Dnd41	blood
14	chr7:150810400-150813000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:150810600-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr7:150811000-150812400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:150811000-150812800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
19	chr7:150811400-150812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:150811400-150812400	Active TSS	Small Intestine	intestine
21	chr7:150811400-150812800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:150811400-150812800	Weak transcription	Brain Angular Gyrus	brain
23	chr7:150811400-150812800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:150811400-150813000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr7:150811400-150813000	Weak transcription	HepG2	liver
26	chr7:150811400-150813400	Enhancers	Adipose Nuclei	Adipose
27	chr7:150811400-150813600	Weak transcription	Fetal Lung	lung
28	chr7:150811400-150813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:150811400-150813800	Active TSS	Esophagus	oesophagus
30	chr7:150811400-150814000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:150811600-150812400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:150811600-150812600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:150811600-150812600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:150811600-150812800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:150811600-150812800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:150811600-150812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:150811600-150812800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:150811600-150812800	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr7:150811600-150812800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:150811600-150812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:150811600-150812800	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:150811600-150812800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:150811600-150812800	Active TSS	Left Ventricle	heart
44	chr7:150811600-150812800	Active TSS	Pancreas	Pancrea
45	chr7:150811600-150812800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:150811600-150812800	Weak transcription	Stomach Mucosa	stomach
47	chr7:150811600-150812800	Enhancers	Spleen	Spleen
48	chr7:150811600-150812800	Weak transcription	A549	lung
49	chr7:150811600-150813000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:150811600-150813000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

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