Variant report

Variant	nsv1033652
Chromosome Location	chr7:140454068-140469620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:140459463-140459523	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr7:140468460-140468610	HRE	kidney:	n/a	n/a
3	CTCF	chr7:140459397-140459444	Kidney_OC	kidney:	n/a	n/a
4	E2F4	chr7:140466719-140466803	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA2	chr7:140462464-140462705	K562	blood:	n/a	n/a
6	GATA3	chr7:140469585-140470056	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr7:140469557-140470020	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr7:140467531-140467579	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr7:140469577-140469970	MCF-7	breast:	n/a	n/a
10	NR2F2	chr7:140462424-140462815	K562	blood:	n/a	n/a
11	NR2F2	chr7:140462429-140462830	K562	blood:	n/a	n/a
12	NR3C1	chr7:140462459-140462662	A549	lung:	n/a	n/a
13	NR3C1	chr7:140462441-140462803	A549	lung:	n/a	n/a
14	NRF1	chr7:140454952-140455006	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:140467292-140467304	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:140455447-140455461	K562	blood:	n/a	n/a
17	POLR2A	chr7:140467084-140467685	K562	blood:	n/a	n/a
18	POLR2A	chr7:140457923-140458022	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:140468169-140468241	GM12878	blood:	n/a	n/a
20	SETDB1	chr7:140461251-140461460	U2OS	brain:	n/a	n/a
21	STAT3	chr7:140455099-140455272	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:140454740-140454790	Hela-S3	cervix:	n/a
2	chr7:140454740-140454790	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:140454740-140454790	SKMC	muscle:	n/a
4	chr7:140454740-140454790	HIPEpiC	eye:	n/a
5	chr7:140454740-140454790	GM12891	blood:	n/a
6	chr7:140454740-140454790	GM19239	blood:	n/a
7	chr7:140454740-140454790	HL-60	blood:	n/a
8	chr7:140454740-140454790	Jurkat	blood:	n/a
9	chr7:140454740-140454790	Hepatocyte	liver:	n/a
10	chr7:140454740-140454790	HRPEpiC	eye:	n/a
11	chr7:140454740-140454790	MCF-7	breast:	n/a
12	chr7:140454740-140454790	HCPEpiC	choroid plexus:	n/a
13	chr7:140454740-140454790	ovcar-3	ovarian:	n/a
14	chr7:140454740-140454790	HUVEC	blood vessel:	n/a
15	chr7:140454740-140454790	NH-A	brain:	n/a
16	chr7:140454740-140454790	GM12878	blood:	n/a
17	chr7:140454740-140454790	HepG2	liver:	n/a
18	chr7:140454740-140454790	LNCaP	prostate:	n/a
19	chr7:140454740-140454790	AG10803	skin:	n/a
20	chr7:140454740-140454790	IMR90	lung:	fetal
21	chr7:140454740-140454790	NB4	blood:	n/a
22	chr7:140454740-140454790	PrEC	prostate:	n/a
23	chr7:140454740-140454790	NT2-D1	testis:	n/a
24	chr7:140454740-140454790	AoSMC	blood vessel:	n/a
25	chr7:140454740-140454790	NHBE	bronchial:	n/a
26	chr7:140454740-140454790	GM06990	blood:	n/a
27	chr7:140454740-140454790	BJ	skin:	n/a
28	chr7:140454740-140454790	HMEC	breast:	n/a
29	chr7:140454740-140454790	AG04449	skin:	fetal
30	chr7:140454740-140454790	HCM	heart:	n/a
31	chr7:140454740-140454790	HNPCEpiC	eye:	n/a
32	chr7:140454740-140454790	PFSK-1	brain:	n/a
33	chr7:140454740-140454790	HRE	kidney:	n/a
34	chr7:140454740-140454790	SK-N-SH_RA	brain:	n/a
35	chr7:140454740-140454790	AG04450	lung:	fetal
36	chr7:140454740-140454790	AG09309	skin:	n/a
37	chr7:140454740-140454790	HEEpiC	esophagus:	n/a
38	chr7:140454740-140454790	PANC-1	pancreas:	n/a
39	chr7:140454740-140454790	K562	blood:	n/a
40	chr7:140454740-140454790	HCF	heart:	n/a
41	chr7:140454740-140454790	Caco-2	colon:	n/a
42	chr7:140454740-140454790	A549	lung:	n/a
43	chr7:140454740-140454790	GM12892	blood:	n/a
44	chr7:140454740-140454790	ProgFib	skin:	n/a
45	chr7:140454740-140454790	SK-N-MC	brain:	n/a
46	chr7:140454740-140454790	U87	brain:	n/a
47	chr7:140454740-140454790	HEK293	kidney:	embryo
48	chr7:140454740-140454790	BE2_C	brain:	n/a
49	chr7:140454740-140454790	AG09319	gingival:	n/a
50	chr7:140454740-140454790	HRCEpiC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140458046..140459583-chr7:140475705..140477212,2	K562	blood:
2	chr7:140449958..140452334-chr7:140454838..140457503,3	K562	blood:
3	chr7:140467826..140469785-chr7:140471458..140473355,3	K562	blood:
4	chr7:140443946..140445790-chr7:140457847..140460570,2	K562	blood:
5	chr7:140466871..140469366-chr7:140475800..140478111,2	K562	blood:
6	chr7:140448573..140452334-chr7:140454838..140458113,4	K562	blood:
7	chr7:140467826..140469420-chr7:140471488..140473355,2	K562	blood:

No data

Variant related genes	Relation type
BRAF	TF binding region
BRAF	CpG island

Extended variants
information (count: 597 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371142723	chr7:140454069-140454070	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371218602	chr7:140454079-140454080	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374085430	chr7:140454086-140454087	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189077091	chr7:140454087-140454088	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560713527	chr7:140454116-140454117	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71645987	chr7:140454123-140454124	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181020040	chr7:140454142-140454143	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564812610	chr7:140454184-140454185	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577995603	chr7:140454273-140454274	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532182865	chr7:140454291-140454292	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186009362	chr7:140454332-140454333	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569377595	chr7:140454341-140454342	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536337194	chr7:140454358-140454359	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12670647	chr7:140454405-140454406	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548596951	chr7:140454419-140454420	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190124271	chr7:140454496-140454497	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181284737	chr7:140454501-140454502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376106701	chr7:140454526-140454527	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368343653	chr7:140454569-140454570	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374272888	chr7:140454574-140454575	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185935112	chr7:140454588-140454589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377568100	chr7:140454633-140454634	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146062433	chr7:140454664-140454665	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538444974	chr7:140454675-140454676	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147854895	chr7:140454704-140454705	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575339255	chr7:140454760-140454761	Enhancers Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs542345522	chr7:140454793-140454794	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560969766	chr7:140454799-140454800	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572529473	chr7:140454813-140454814	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554288677	chr7:140454849-140454850	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190795870	chr7:140454959-140454960	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564837728	chr7:140454962-140454963	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7801086	chr7:140454973-140454974	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs550398987	chr7:140454974-140454975	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562524802	chr7:140455020-140455021	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530240506	chr7:140455077-140455078	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374354400	chr7:140455128-140455129	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs117482157	chr7:140455167-140455168	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs372870369	chr7:140455173-140455174	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs527694951	chr7:140455237-140455238	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6464036	chr7:140455238-140455239	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571210137	chr7:140455254-140455255	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs183786625	chr7:140455259-140455260	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552619922	chr7:140455279-140455280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568542471	chr7:140455304-140455305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189194980	chr7:140455360-140455361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141529861	chr7:140455411-140455412	Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61142678	chr7:140455548-140455549	Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544130824	chr7:140455622-140455623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150410852	chr7:140455627-140455628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398000-140466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:140398200-140473800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
4	chr7:140398600-140459400	Weak transcription	Brain Germinal Matrix	brain
5	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
6	chr7:140399400-140468200	Weak transcription	Right Ventricle	heart
7	chr7:140400000-140474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
10	chr7:140405200-140470800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:140405600-140472200	Weak transcription	Brain Substantia Nigra	brain
12	chr7:140406600-140472800	Weak transcription	Hela-S3	cervix
13	chr7:140407000-140454200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:140407000-140466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:140407200-140454400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:140407200-140459200	Weak transcription	Fetal Lung	lung
17	chr7:140407200-140468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:140415000-140454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:140415200-140466400	Weak transcription	Aorta	Aorta
21	chr7:140415200-140472000	Weak transcription	Lung	lung
22	chr7:140415200-140506600	Weak transcription	Gastric	stomach
23	chr7:140421800-140474000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:140424200-140468200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:140424400-140476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:140425400-140468400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:140426200-140467200	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:140426200-140473000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:140426600-140455800	Weak transcription	NH-A	brain
30	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
31	chr7:140428600-140476600	Weak transcription	NHDF-Ad	bronchial
32	chr7:140429200-140459600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:140431200-140474200	Weak transcription	Esophagus	oesophagus
34	chr7:140436800-140468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:140438200-140466800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:140438400-140482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:140439000-140459200	Weak transcription	Fetal Stomach	stomach
38	chr7:140439000-140459400	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:140439200-140458200	Weak transcription	Ovary	ovary
40	chr7:140439600-140474800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:140439800-140455400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:140440000-140454400	Weak transcription	Osteobl	bone
43	chr7:140440000-140468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:140440000-140469600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:140440000-140472000	Weak transcription	Brain Anterior Caudate	brain
46	chr7:140440400-140476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:140440600-140466400	Weak transcription	Thymus	Thymus
48	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:140440800-140459400	Weak transcription	Fetal Brain Female	brain
50	chr7:140441000-140466800	Weak transcription	Stomach Smooth Muscle	stomach

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