Variant report

Variant	nsv24442
Chromosome Location	chr10:21530218-21534098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:21530183-21530429	K562	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
2	CTCF	chr10:21530200-21530350	GM12874	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
3	CTCF	chr10:21530120-21530270	GM12870	blood:	n/a	chr10:21530261-21530270
4	CTCF	chr10:21530240-21530390	BJ	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
5	CTCF	chr10:21530240-21530390	AG04449	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
6	CTCF	chr10:21530242-21530329	A549	lung:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
7	CTCF	chr10:21530220-21530370	HRPEpiC	eye:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
8	CTCF	chr10:21530091-21530446	K562	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
9	CTCF	chr10:21530160-21530310	Caco-2	colon:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
10	CTCF	chr10:21530220-21530370	HCFaa	heart:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
11	CTCF	chr10:21530220-21530370	HPAF	blood vessel:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
12	CTCF	chr10:21530180-21530330	HFF-Myc	foreskin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
13	CTCF	chr10:21530240-21530390	HEEpiC	esophagus:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
14	CTCF	chr10:21530200-21530350	HVMF	connective:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
15	CTCF	chr10:21530220-21530370	HPF	lung:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
16	CTCF	chr10:21530240-21530390	HMEC	breast:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
17	CTCF	chr10:21530163-21530332	A549	lung:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
18	CTCF	chr10:21530240-21530390	HCPEpiC	choroid plexus:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
19	CTCF	chr10:21530220-21530370	BJ	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
20	CTCF	chr10:21530260-21530410	MCF-7	breast:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273
21	CTCF	chr10:21530220-21530370	AG10803	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
22	CTCF	chr10:21531740-21531890	Caco-2	colon:	n/a	n/a
23	CTCF	chr10:21530200-21530350	HCM	heart:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
24	CTCF	chr10:21530176-21530464	K562	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
25	CTCF	chr10:21530200-21530350	AG09319	gingival:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
26	CTCF	chr10:21530240-21530390	K562	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
27	CTCF	chr10:21530200-21530350	BE2_C	brain:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
28	CTCF	chr10:21530220-21530370	HMF	breast:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
29	CTCF	chr10:21530200-21530350	WERI-Rb-1	eye:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
30	CTCF	chr10:21530200-21530350	WI-38	lung:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
31	CTCF	chr10:21530200-21530350	AG10803	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
32	CTCF	chr10:21530235-21530343	MCF-7	breast:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
33	CTCF	chr10:21530300-21530450	GM12875	blood:	n/a	n/a
34	CTCF	chr10:21530200-21530350	HAc	cerebellar:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
35	CTCF	chr10:21530180-21530330	NHDF-neo	bronchial:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
36	CTCF	chr10:21530220-21530370	GM12873	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
37	CTCF	chr10:21530200-21530350	HRPEpiC	eye:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
38	CTCF	chr10:21530220-21530370	HCT-116	colon:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
39	CTCF	chr10:21530200-21530350	HCT-116	colon:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
40	CTCF	chr10:21530200-21530350	GM12869	blood:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
41	CTCF	chr10:21530193-21530369	HepG2	liver:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
42	CTCF	chr10:21530220-21530370	Hela-S3	cervix:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
43	CTCF	chr10:21530220-21530370	AG04449	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
44	CTCF	chr10:21530240-21530390	HepG2	liver:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
45	CTCF	chr10:21530268-21530316	NHEK	skin:	n/a	n/a
46	CTCF	chr10:21530140-21530290	SAEC	small airway:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
47	CTCF	chr10:21530215-21530374	MCF-7	breast:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
48	CTCF	chr10:21530222-21530379	Gliobla	brain:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
49	CTCF	chr10:21530240-21530390	NHEK	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276
50	CTCF	chr10:21530220-21530370	AG09309	skin:	n/a	chr10:21530261-21530270 chr10:21530261-21530274 chr10:21530263-21530273 chr10:21530258-21530276

No.	Distal block	Cell Line	Cell type
1	chr10:21523588..21525703-chr10:21531837..21534250,2	K562	blood:
2	chr10:21368966..21370555-chr10:21530412..21532573,2	MCF-7	breast:
3	chr10:21529976..21530739-chr10:21558620..21559130,2	K562	blood:

Variant related genes	Relation type
LUZP4P1	TF binding region

Extended variants
information (count: 186 )
Associated
traits (count: 35 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35430205	chr10:21530219-21530220	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561449843	chr10:21530243-21530244	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535027010	chr10:21530253-21530254	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370001640	chr10:21530268-21530269	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530443147	chr10:21530269-21530270	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553259307	chr10:21530272-21530273	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574784473	chr10:21530274-21530275	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565345739	chr10:21530275-21530276	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528128455	chr10:21530294-21530295	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551107053	chr10:21530296-21530297	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542187345	chr10:21530297-21530298	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557179584	chr10:21530304-21530305	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575416056	chr10:21530316-21530317	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11815918	chr10:21530325-21530326	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs536877540	chr10:21530327-21530328	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552805018	chr10:21530328-21530329	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139614620	chr10:21530339-21530340	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200938550	chr10:21530341-21530342	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186496423	chr10:21530401-21530402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536558989	chr10:21530469-21530470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553048045	chr10:21530488-21530489	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192330130	chr10:21530550-21530551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12762419	chr10:21530561-21530562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559126253	chr10:21530624-21530625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575882694	chr10:21530631-21530632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544449440	chr10:21530659-21530660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183158358	chr10:21530660-21530661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574992236	chr10:21530685-21530686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561386308	chr10:21530761-21530762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188036763	chr10:21530794-21530795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115945557	chr10:21530825-21530826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193076277	chr10:21530868-21530869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34999806	chr10:21530871-21530872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397772866	chr10:21530872-21530873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141133698	chr10:21530900-21530901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371762356	chr10:21530902-21530903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530646860	chr10:21530918-21530919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11012611	chr10:21530949-21530950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11012612	chr10:21530962-21530963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143466418	chr10:21531001-21531002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185272803	chr10:21531030-21531031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566852867	chr10:21531059-21531060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189448297	chr10:21531068-21531069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559011144	chr10:21531084-21531085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115833316	chr10:21531087-21531088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113344853	chr10:21531102-21531103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112410919	chr10:21531143-21531144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373513311	chr10:21531144-21531145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192635757	chr10:21531157-21531158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71287305	chr10:21531166-21531167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:35)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21522000-21549600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:21522200-21549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:21524000-21548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:21524000-21549000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:21524000-21549400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:21528800-21530400	Weak transcription	Placenta	Placenta
7	chr10:21529400-21531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:21529800-21530400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:21530200-21530400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:21530200-21530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:21530200-21530600	Enhancers	Fetal Muscle Leg	muscle
12	chr10:21530200-21530800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:21530200-21530800	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:21530400-21530600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:21530400-21530600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:21530400-21530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:21530400-21530800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr10:21530400-21530800	Enhancers	Placenta	Placenta
19	chr10:21530600-21530800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:21530600-21549600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:21531200-21531600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:21531600-21532800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:21532200-21532800	Enhancers	Adipose Nuclei	Adipose

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