Variant report

Variant	esv11760
Chromosome Location	chr7:102614464-102617348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:246)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:102615512-102615697	K562	blood:	n/a	n/a
2	ATF1	chr7:102615471-102615652	K562	blood:	n/a	n/a
3	BHLHE40	chr7:102615498-102615614	K562	blood:	n/a	n/a
4	CBX3	chr7:102613423-102614555	K562	blood:	n/a	n/a
5	CBX3	chr7:102616799-102617613	K562	blood:	n/a	n/a
6	CBX3	chr7:102615174-102615822	K562	blood:	n/a	n/a
7	CBX3	chr7:102616016-102616744	K562	blood:	n/a	n/a
8	CHD2	chr7:102616910-102617141	K562	blood:	n/a	n/a
9	CHD2	chr7:102615129-102615353	K562	blood:	n/a	n/a
10	CTCF	chr7:102615512-102615674	GM19238	blood:	n/a	n/a
11	CTCF	chr7:102615460-102615610	HCT-116	colon:	n/a	n/a
12	CTCF	chr7:102615540-102615653	NHEK	skin:	n/a	n/a
13	CTCF	chr7:102615520-102615670	RPTEC	kidney:	n/a	n/a
14	CTCF	chr7:102615500-102615650	HCFaa	heart:	n/a	n/a
15	CTCF	chr7:102615424-102615784	A549	lung:	n/a	n/a
16	CTCF	chr7:102615500-102615650	GM12867	blood:	n/a	n/a
17	CTCF	chr7:102615540-102615690	NHEK	skin:	n/a	n/a
18	CTCF	chr7:102615540-102615690	AG10803	skin:	n/a	n/a
19	CTCF	chr7:102615560-102615710	GM12865	blood:	n/a	n/a
20	CTCF	chr7:102615560-102615710	GM12868	blood:	n/a	n/a
21	CTCF	chr7:102615560-102615710	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr7:102615480-102615630	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:102615540-102615690	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr7:102615316-102615844	K562	blood:	n/a	n/a
25	CTCF	chr7:102615549-102615638	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr7:102615520-102615670	BJ	skin:	n/a	n/a
27	CTCF	chr7:102615500-102615650	GM12872	blood:	n/a	n/a
28	CTCF	chr7:102615557-102615688	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr7:102615560-102615710	GM12873	blood:	n/a	n/a
30	CTCF	chr7:102615537-102615703	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr7:102615480-102615630	Caco-2	colon:	n/a	n/a
32	CTCF	chr7:102615500-102615650	HPF	lung:	n/a	n/a
33	CTCF	chr7:102615412-102615718	K562	blood:	n/a	n/a
34	CTCF	chr7:102615520-102615670	K562	blood:	n/a	n/a
35	CTCF	chr7:102615421-102615701	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr7:102615540-102615690	GM12870	blood:	n/a	n/a
37	CTCF	chr7:102615520-102615670	AG09309	skin:	n/a	n/a
38	CTCF	chr7:102615480-102615630	GM12878	blood:	n/a	n/a
39	CTCF	chr7:102615540-102615690	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr7:102615500-102615650	GM12871	blood:	n/a	n/a
41	CTCF	chr7:102615520-102615670	GM12872	blood:	n/a	n/a
42	CTCF	chr7:102615560-102615710	HCM	heart:	n/a	n/a
43	CTCF	chr7:102615369-102615702	HCT-116	colon:	n/a	n/a
44	CTCF	chr7:102615503-102615672	HepG2	liver:	n/a	n/a
45	CTCF	chr7:102615507-102615696	GM12878	blood:	n/a	n/a
46	CTCF	chr7:102615516-102615697	Gliobla	brain:	n/a	n/a
47	CTCF	chr7:102615560-102615710	NB4	blood:	n/a	n/a
48	CTCF	chr7:102615558-102615690	Medullo	brain:	n/a	n/a
49	CTCF	chr7:102615500-102615650	BE2_C	brain:	n/a	n/a
50	CTCF	chr7:102615560-102615710	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102616376..102618625-chr7:102696676..102699468,2	K562	blood:
2	chr7:102451931..102453738-chr7:102614138..102615717,2	K562	blood:
3	chr7:102613006..102614516-chr7:102715583..102717366,2	K562	blood:
4	chr7:102616176..102618073-chr7:103034545..103036072,2	K562	blood:
5	chr7:102452440..102454909-chr7:102615064..102617723,2	K562	blood:
6	chr7:102497060..102498758-chr7:102613043..102615053,2	K562	blood:

No data

Variant related genes	Relation type
FBXL13	TF binding region
ENSG00000238324	chromatin interactions
ENSG00000170632	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545727852	chr7:102614469-102614470	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs530329439	chr7:102614470-102614471	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183225738	chr7:102614547-102614548	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188478756	chr7:102614554-102614555	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527240770	chr7:102614557-102614558	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543174583	chr7:102614566-102614567	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs193128365	chr7:102614595-102614596	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531415412	chr7:102614601-102614602	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113646566	chr7:102614610-102614611	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184839610	chr7:102614613-102614614	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs146817362	chr7:102614628-102614629	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189353490	chr7:102614631-102614632	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547293120	chr7:102614647-102614648	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs13245825	chr7:102614698-102614699	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529861845	chr7:102614764-102614765	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192305527	chr7:102614897-102614898	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546672778	chr7:102614981-102614982	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374057142	chr7:102615011-102615012	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538135032	chr7:102615023-102615024	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567681052	chr7:102615026-102615027	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs73408279	chr7:102615042-102615043	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs556451648	chr7:102615056-102615057	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147582951	chr7:102615195-102615196	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142102579	chr7:102615221-102615222	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568147989	chr7:102615251-102615252	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs75924751	chr7:102615416-102615417	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535660063	chr7:102615431-102615432	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs554524134	chr7:102615484-102615485	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145759181	chr7:102615542-102615543	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542879956	chr7:102615554-102615555	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370079295	chr7:102615612-102615613	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576097900	chr7:102615683-102615684	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs138355526	chr7:102615707-102615708	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs10225811	chr7:102615714-102615715	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143585398	chr7:102615810-102615811	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540589429	chr7:102615890-102615891	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559419464	chr7:102615909-102615910	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183692195	chr7:102615915-102615916	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs148066003	chr7:102616036-102616037	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548130548	chr7:102616051-102616052	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529762995	chr7:102616080-102616081	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs189318098	chr7:102616116-102616117	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181387187	chr7:102616142-102616143	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186538396	chr7:102616147-102616148	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73714540	chr7:102616217-102616218	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539072261	chr7:102616238-102616239	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs547748951	chr7:102616277-102616278	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558521613	chr7:102616303-102616304	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369247046	chr7:102616325-102616326	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190154497	chr7:102616332-102616333	Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102591000-102619400	Weak transcription	HSMM	muscle
2	chr7:102608800-102618600	Weak transcription	Osteobl	bone
3	chr7:102611800-102615000	Active TSS	K562	blood
4	chr7:102613000-102625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:102613600-102615800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr7:102613800-102615600	Enhancers	HUVEC	blood vessel
8	chr7:102613800-102617000	Weak transcription	Fetal Stomach	stomach
9	chr7:102613800-102618600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:102614200-102615200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:102614200-102618600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:102614200-102618800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:102614400-102615200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:102615000-102618000	Transcr. at gene 5' and 3'	K562	blood
15	chr7:102615200-102615400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:102615200-102615600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:102615600-102618600	Weak transcription	HUVEC	blood vessel
18	chr7:102615600-102619000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:102615800-102616600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:102616600-102617000	Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:102616800-102617600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:102617000-102618000	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links