Variant report

Variant	nsv524227
Chromosome Location	chr10:97324127-97328227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:97324162-97324340	K562	blood:	n/a	chr10:97324247-97324258
2	CEBPB	chr10:97324105-97324413	HepG2	liver:	n/a	chr10:97324247-97324258
3	CEBPB	chr10:97324127-97324409	Hela-S3	cervix:	n/a	chr10:97324247-97324258
4	CEBPB	chr10:97324023-97324352	HepG2	liver:	n/a	chr10:97324247-97324258
5	CEBPB	chr10:97324108-97324341	HepG2	liver:	n/a	chr10:97324247-97324258
6	CEBPB	chr10:97324164-97324364	H1-hESC	embryonic stem cell:	n/a	chr10:97324247-97324258
7	CEBPB	chr10:97324097-97324409	HepG2	liver:	n/a	chr10:97324247-97324258
8	CEBPB	chr10:97324119-97324387	MCF-7	breast:	n/a	chr10:97324247-97324258
9	CTCF	chr10:97325580-97325730	HVMF	connective:	n/a	n/a
10	CTCF	chr10:97325660-97325810	HVMF	connective:	n/a	n/a
11	EP300	chr10:97324038-97324350	HepG2	liver:	n/a	n/a
12	EP300	chr10:97324197-97324285	HepG2	liver:	n/a	n/a
13	FOS	chr10:97327837-97327956	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr10:97325901-97326240	T-47D	breast:	n/a	n/a
15	GATA3	chr10:97327656-97328045	T-47D	breast:	n/a	n/a
16	HDAC2	chr10:97324086-97324373	HepG2	liver:	n/a	n/a
17	JUND	chr10:97327783-97328001	K562	blood:	n/a	n/a
18	MAFK	chr10:97328059-97328141	HepG2	liver:	n/a	n/a
19	MYBL2	chr10:97324001-97324360	HepG2	liver:	n/a	n/a
20	RFX5	chr10:97324800-97324941	K562	blood:	n/a	n/a
21	SRF	chr10:97324897-97325124	HepG2	liver:	n/a	chr10:97325035-97325053
22	SRF	chr10:97324850-97325140	HepG2	liver:	n/a	chr10:97325035-97325053
23	STAT3	chr10:97324159-97324248	MCF10A-Er-Src	breast:	n/a	n/a
24	TEAD4	chr10:97323975-97324463	HepG2	liver:	n/a	n/a
25	ZNF384	chr10:97327759-97328047	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:97324947-97324997	ECC-1	luminal epithelium:	n/a
2	chr10:97324947-97324997	GM12892	blood:	n/a
3	chr10:97324947-97324997	HEK293	kidney:	embryo
4	chr10:97324947-97324997	SKMC	muscle:	n/a
5	chr10:97324947-97324997	SK-N-SH	brain:	n/a
6	chr10:97324947-97324997	MCF-7	breast:	n/a
7	chr10:97324947-97324997	Hepatocyte	liver:	n/a
8	chr10:97324947-97324997	RPTEC	kidney:	n/a
9	chr10:97324947-97324997	AG04450	lung:	fetal
10	chr10:97324947-97324997	GM12878	blood:	n/a
11	chr10:97324947-97324997	Caco-2	colon:	n/a
12	chr10:97324947-97324997	HUVEC	blood vessel:	n/a
13	chr10:97324947-97324997	Jurkat	blood:	n/a
14	chr10:97324947-97324997	HCPEpiC	choroid plexus:	n/a
15	chr10:97324947-97324997	SK-N-SH_RA	brain:	n/a
16	chr10:97324947-97324997	CMK	blood:	n/a
17	chr10:97324947-97324997	NHBE	bronchial:	n/a
18	chr10:97324947-97324997	A549	lung:	n/a
19	chr10:97324947-97324997	HIPEpiC	eye:	n/a
20	chr10:97324947-97324997	SK-N-MC	brain:	n/a
21	chr10:97324947-97324997	HCF	heart:	n/a
22	chr10:97324947-97324997	AoSMC	blood vessel:	n/a
23	chr10:97324947-97324997	HNPCEpiC	eye:	n/a
24	chr10:97324947-97324997	K562	blood:	n/a
25	chr10:97324947-97324997	PANC-1	pancreas:	n/a
26	chr10:97324947-97324997	HRE	kidney:	n/a
27	chr10:97324947-97324997	GM19239	blood:	n/a
28	chr10:97324947-97324997	AG09309	skin:	n/a
29	chr10:97324947-97324997	HRPEpiC	eye:	n/a
30	chr10:97324947-97324997	AG09319	gingival:	n/a
31	chr10:97324947-97324997	GM06990	blood:	n/a
32	chr10:97324947-97324997	SAEC	small airway:	n/a
33	chr10:97324947-97324997	MCF10A-Er-Src	breast:	n/a
34	chr10:97324947-97324997	BE2_C	brain:	n/a
35	chr10:97324947-97324997	PFSK-1	brain:	n/a
36	chr10:97324947-97324997	T-47D	breast:	n/a
37	chr10:97324947-97324997	HEEpiC	esophagus:	n/a
38	chr10:97324947-97324997	HRCEpiC	kidney:	n/a
39	chr10:97324947-97324997	PrEC	prostate:	n/a
40	chr10:97324947-97324997	HCT-116	colon:	n/a
41	chr10:97324947-97324997	NH-A	brain:	n/a
42	chr10:97324947-97324997	HAEpiC	amniotic membrane:	n/a
43	chr10:97324947-97324997	HMEC	breast:	n/a
44	chr10:97324947-97324997	NB4	blood:	n/a
45	chr10:97324947-97324997	LNCaP	prostate:	n/a
46	chr10:97324947-97324997	BJ	skin:	n/a
47	chr10:97324947-97324997	ovcar-3	ovarian:	n/a
48	chr10:97324947-97324997	H1-hESC	embryonic stem cell:	embryo
49	chr10:97324947-97324997	NHDF-neo	bronchial:	n/a
50	chr10:97324947-97324997	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:97321491..97323159-chr10:97323965..97326308,2	K562	blood:
2	chr10:97319586..97322599-chr10:97327205..97330905,3	K562	blood:
3	chr10:97249016..97250688-chr10:97324094..97327075,2	MCF-7	breast:

No data

Variant related genes	Relation type
SORBS1	TF binding region
SORBS1	CpG island
ENSG00000095637	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7070798	chr10:97324127-97324128	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554718797	chr10:97324152-97324153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574885352	chr10:97324154-97324155	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs115584053	chr10:97324163-97324164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs370991415	chr10:97324181-97324182	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190856980	chr10:97324237-97324238	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577198514	chr10:97324249-97324250	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545678521	chr10:97324261-97324262	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7086880	chr10:97324335-97324336	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572652652	chr10:97324353-97324354	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569795713	chr10:97324447-97324448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541630267	chr10:97324451-97324452	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372501772	chr10:97324460-97324461	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183034250	chr10:97324472-97324473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11593693	chr10:97324501-97324502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7090870	chr10:97324511-97324512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564093208	chr10:97324546-97324547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186359739	chr10:97324566-97324567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552877045	chr10:97324567-97324568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566380969	chr10:97324611-97324612	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528656559	chr10:97324674-97324675	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77259546	chr10:97324717-97324718	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372073713	chr10:97324795-97324796	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537533238	chr10:97324841-97324842	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370062149	chr10:97324888-97324889	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs540271008	chr10:97324922-97324923	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191664923	chr10:97324948-97324949	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs373868537	chr10:97324979-97324980	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs570480402	chr10:97325087-97325088	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539450165	chr10:97325101-97325102	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552805955	chr10:97325108-97325109	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs560183068	chr10:97325114-97325115	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs117998816	chr10:97325126-97325127	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546099239	chr10:97325137-97325138	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs553748457	chr10:97325164-97325165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182979805	chr10:97325168-97325169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187313395	chr10:97325188-97325189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12264173	chr10:97325224-97325225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544259496	chr10:97325255-97325256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564050195	chr10:97325264-97325265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7915442	chr10:97325295-97325296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192657058	chr10:97325305-97325306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369709217	chr10:97325340-97325341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12359410	chr10:97325341-97325342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34533159	chr10:97325354-97325355	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547005300	chr10:97325391-97325392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535125575	chr10:97325416-97325417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368505506	chr10:97325417-97325418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117326293	chr10:97325514-97325515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141851404	chr10:97325659-97325660	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97321600-97324200	Weak transcription	Left Ventricle	heart
2	chr10:97321600-97324600	Weak transcription	Fetal Lung	lung
3	chr10:97321600-97325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:97321600-97325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:97321600-97327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:97321600-97327600	Weak transcription	Right Atrium	heart
7	chr10:97321600-97328000	Weak transcription	Lung	lung
8	chr10:97321600-97329200	Enhancers	Placenta	Placenta
9	chr10:97321600-97332200	Weak transcription	Right Ventricle	heart
10	chr10:97321800-97324600	Weak transcription	Fetal Stomach	stomach
11	chr10:97321800-97325000	Weak transcription	Hela-S3	cervix
12	chr10:97321800-97325400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:97321800-97325600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:97321800-97325800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:97321800-97327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:97321800-97331800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:97321800-97332200	Weak transcription	Brain Anterior Caudate	brain
18	chr10:97322000-97324600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:97322000-97327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:97322200-97324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:97322400-97325000	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:97322400-97328200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:97322400-97328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:97322600-97324600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:97323000-97324800	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:97323000-97328000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:97323400-97324400	Weak transcription	Fetal Intestine Large	intestine
28	chr10:97323400-97324600	Enhancers	HepG2	liver
29	chr10:97324400-97325400	Enhancers	Fetal Intestine Large	intestine
30	chr10:97324600-97324800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:97324600-97324800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:97324600-97325000	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:97324600-97325000	Flanking Active TSS	HepG2	liver
34	chr10:97324600-97326200	Enhancers	Fetal Lung	lung
35	chr10:97324600-97326200	Enhancers	Rectal Smooth Muscle	rectum
36	chr10:97324600-97326400	Enhancers	Fetal Stomach	stomach
37	chr10:97324800-97325400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:97324800-97326600	Enhancers	Colon Smooth Muscle	Colon
39	chr10:97325000-97325200	Enhancers	Fetal Muscle Leg	muscle
40	chr10:97325000-97325200	Enhancers	Hela-S3	cervix
41	chr10:97325000-97325400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr10:97325000-97326600	Enhancers	HepG2	liver
43	chr10:97325200-97325600	Weak transcription	Hela-S3	cervix
44	chr10:97325400-97325600	Enhancers	Stomach Smooth Muscle	stomach
45	chr10:97325400-97325800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:97325400-97326200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:97325400-97326200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr10:97325600-97325800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr10:97325600-97326200	Enhancers	Brain Cingulate Gyrus	brain
50	chr10:97325600-97326200	Enhancers	Hela-S3	cervix

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