Variant report

Variant	nsv523933
Chromosome Location	chr11:6173346-6204316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:368)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:6196646-6196971	K562	blood:	n/a	n/a
2	BACH1	chr11:6178178-6178531	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr11:6177926-6178141	K562	blood:	n/a	n/a
4	CEBPB	chr11:6198338-6198637	IMR90	lung:	n/a	chr11:6198479-6198490
5	CEBPB	chr11:6198338-6198579	A549	lung:	n/a	chr11:6198479-6198490
6	CEBPB	chr11:6182550-6182780	A549	lung:	n/a	n/a
7	CEBPB	chr11:6198336-6198540	K562	blood:	n/a	chr11:6198479-6198490
8	CEBPB	chr11:6198410-6198607	HepG2	liver:	n/a	chr11:6198479-6198490
9	CHD2	chr11:6177962-6178152	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:6175292-6175365	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:6182143-6182248	GM10248	blood:	n/a	n/a
12	CTCF	chr11:6175257-6175416	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr11:6175260-6175410	HMF	breast:	n/a	n/a
14	CTCF	chr11:6175240-6175390	HCT-116	colon:	n/a	n/a
15	CTCF	chr11:6175312-6175349	K562	blood:	n/a	n/a
16	CTCF	chr11:6175220-6175370	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr11:6175400-6175474	GM20000	blood:	n/a	n/a
18	CTCF	chr11:6175240-6175390	Caco-2	colon:	n/a	n/a
19	EGR1	chr11:6178242-6178414	K562	blood:	n/a	n/a
20	FOS	chr11:6182644-6182770	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA2	chr11:6200659-6201157	A549	lung:	n/a	n/a
22	FOXA2	chr11:6178927-6179114	HepG2	liver:	n/a	n/a
23	MAFK	chr11:6178200-6178569	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr11:6177839-6178144	K562	blood:	n/a	n/a
25	MYC	chr11:6177993-6178042	K562	blood:	n/a	n/a
26	NRF1	chr11:6194636-6194704	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:6182394-6182419	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:6181421-6181699	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:6182744-6182847	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:6187586-6188240	K562	blood:	n/a	n/a
31	POLR2A	chr11:6173580-6173686	Gliobla	brain:	n/a	n/a
32	POLR2A	chr11:6193353-6193578	ProgFib	skin:	n/a	n/a
33	POLR2A	chr11:6193450-6193499	K562	blood:	n/a	n/a
34	POLR2A	chr11:6194746-6195187	K562	blood:	n/a	n/a
35	POLR2A	chr11:6190971-6191000	A549	lung:	n/a	n/a
36	POLR2A	chr11:6181298-6181703	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:6173485-6173568	Gliobla	brain:	n/a	n/a
38	POLR2A	chr11:6191026-6191061	A549	lung:	n/a	n/a
39	POLR2A	chr11:6194303-6194498	K562	blood:	n/a	n/a
40	POLR2A	chr11:6188586-6188623	K562	blood:	n/a	n/a
41	POLR2A	chr11:6184553-6184566	GM12878	blood:	n/a	n/a
42	RCOR1	chr11:6177857-6178187	K562	blood:	n/a	n/a
43	RCOR1	chr11:6178001-6178050	K562	blood:	n/a	n/a
44	REST	chr11:6194293-6194392	PANC-1	pancreas:	n/a	n/a
45	SRF	chr11:6182165-6182298	GM12878	blood:	n/a	n/a
46	STAT3	chr11:6173343-6173458	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:6198533-6198748	MCF10A-Er-Src	breast:	n/a	n/a
48	TAL1	chr11:6196778-6196937	K562	blood:	n/a	chr11:6196824-6196842
49	TCF12	chr11:6181404-6181669	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr11:6177736-6178205	HCT-116	colon:	n/a	chr11:6177999-6178010

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:6192943-6192993	SK-N-SH	brain:	n/a
2	chr11:6192419-6192469	T-47D	breast:	n/a
3	chr11:6192943-6192993	SK-N-SH	brain:	n/a
4	chr11:6192419-6192469	T-47D	breast:	n/a
5	chr11:6192943-6192993	SAEC	small airway:	n/a
6	chr11:6192943-6192993	NH-A	brain:	n/a
7	chr11:6192943-6192993	AG10803	skin:	n/a
8	chr11:6192512-6192562	PFSK-1	brain:	n/a
9	chr11:6191393-6191443	Caco-2	colon:	n/a
10	chr11:6192512-6192562	HCF	heart:	n/a
11	chr11:6191109-6191159	Caco-2	colon:	n/a
12	chr11:6191635-6191685	NT2-D1	testis:	n/a
13	chr11:6191393-6191443	SKMC	muscle:	n/a
14	chr11:6192512-6192562	LNCaP	prostate:	n/a
15	chr11:6191393-6191443	SK-N-SH_RA	brain:	n/a
16	chr11:6191393-6191443	BE2_C	brain:	n/a
17	chr11:6191635-6191685	AG04450	lung:	fetal
18	chr11:6191393-6191443	NHBE	bronchial:	n/a
19	chr11:6191635-6191685	HL-60	blood:	n/a
20	chr11:6191393-6191443	T-47D	breast:	n/a
21	chr11:6192419-6192469	PANC-1	pancreas:	n/a
22	chr11:6191109-6191159	K562	blood:	n/a
23	chr11:6192943-6192993	HRCEpiC	kidney:	n/a
24	chr11:6191393-6191443	PANC-1	pancreas:	n/a
25	chr11:6192943-6192993	MCF-7	breast:	n/a
26	chr11:6191393-6191443	ProgFib	skin:	n/a
27	chr11:6191393-6191443	U87	brain:	n/a
28	chr11:6192512-6192562	BJ	skin:	n/a
29	chr11:6192943-6192993	SK-N-SH_RA	brain:	n/a
30	chr11:6191109-6191159	HepG2	liver:	n/a
31	chr11:6192512-6192562	HEEpiC	esophagus:	n/a
32	chr11:6192512-6192562	SK-N-SH	brain:	n/a
33	chr11:6192512-6192562	NT2-D1	testis:	n/a
34	chr11:6192943-6192993	Jurkat	blood:	n/a
35	chr11:6192943-6192993	AG04449	skin:	fetal
36	chr11:6192512-6192562	AG04450	lung:	fetal
37	chr11:6191635-6191685	SAEC	small airway:	n/a
38	chr11:6192419-6192469	BJ	skin:	n/a
39	chr11:6191109-6191159	PANC-1	pancreas:	n/a
40	chr11:6192943-6192993	HEK293	kidney:	embryo
41	chr11:6191635-6191685	SK-N-SH_RA	brain:	n/a
42	chr11:6191393-6191443	HCM	heart:	n/a
43	chr11:6191109-6191159	RPTEC	kidney:	n/a
44	chr11:6191109-6191159	H1-hESC	embryonic stem cell:	embryo
45	chr11:6192419-6192469	SK-N-SH	brain:	n/a
46	chr11:6192419-6192469	HCF	heart:	n/a
47	chr11:6191393-6191443	PFSK-1	brain:	n/a
48	chr11:6191393-6191443	Hela-S3	cervix:	n/a
49	chr11:6192512-6192562	AG04449	skin:	fetal
50	chr11:6191635-6191685	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:6188769..6192274-chr11:6195227..6197999,3	K562	blood:
2	chr11:6188769..6190546-chr11:6195170..6197360,2	K562	blood:
3	chr11:6188769..6190546-chr11:6195170..6197360,2	K562	blood:

No data

Variant related genes	Relation type
OR52B1P	TF binding region
OR52B2	TF binding region
OR52B1P	CpG island
OR52B2	CpG island
ENSG00000255307	chromatin interactions

Extended variants
information (count: 752 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192576761	chr11:6175221-6175222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534399877	chr11:6175229-6175230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138861640	chr11:6175239-6175240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542586274	chr11:6175281-6175282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2344354	chr11:6175396-6175397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377369831	chr11:6175439-6175440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551431368	chr11:6176820-6176821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566735627	chr11:6176858-6176859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537293283	chr11:6176863-6176864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527513985	chr11:6176907-6176908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184790982	chr11:6176908-6176909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16909252	chr11:6176913-6176914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528528189	chr11:6176930-6176931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114177985	chr11:6176943-6176944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549894422	chr11:6176965-6176966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115280197	chr11:6176968-6176969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538608652	chr11:6177022-6177023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558202073	chr11:6177051-6177052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573448978	chr11:6177074-6177075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534145346	chr11:6177097-6177098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555493735	chr11:6177135-6177136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573805752	chr11:6177168-6177169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189236237	chr11:6177169-6177170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562995089	chr11:6177213-6177214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577979426	chr11:6177266-6177267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545369051	chr11:6177272-6177273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570751710	chr11:6177278-6177279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145332413	chr11:6177279-6177280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116681473	chr11:6177286-6177287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145142271	chr11:6177365-6177366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1350995	chr11:6177373-6177374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531533745	chr11:6177382-6177383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377091721	chr11:6177461-6177462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116783516	chr11:6177487-6177488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375356413	chr11:6177506-6177507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180714713	chr11:6177507-6177508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373272761	chr11:6177577-6177578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538271952	chr11:6177585-6177586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547341387	chr11:6177591-6177592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187196231	chr11:6177638-6177639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553269224	chr11:6177688-6177689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147552851	chr11:6177715-6177716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530486598	chr11:6177771-6177772	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2221718	chr11:6177824-6177825	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565483384	chr11:6177825-6177826	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs190827747	chr11:6177841-6177842	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs73392905	chr11:6177859-6177860	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564052334	chr11:6177875-6177876	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149038313	chr11:6177888-6177889	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181827907	chr11:6177953-6177954	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6176800-6177200	Enhancers	Fetal Intestine Large	intestine
2	chr11:6176800-6178400	Enhancers	HepG2	liver
3	chr11:6177800-6178600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr11:6177800-6178600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:6177800-6179000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:6177800-6179200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:6178000-6178200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:6178000-6178200	Enhancers	Fetal Intestine Small	intestine
9	chr11:6178000-6178400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:6178000-6178400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:6178000-6178400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:6178000-6178400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:6178000-6178800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:6178000-6178800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:6178000-6178800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:6178000-6179000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:6178000-6179200	Enhancers	Spleen	Spleen
18	chr11:6178200-6178400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:6178200-6178600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:6178200-6178800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:6178400-6178600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr11:6178600-6178800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr11:6178600-6178800	Enhancers	Fetal Intestine Small	intestine
24	chr11:6181000-6181600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:6190600-6191800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:6191200-6191600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:6193600-6193800	ZNF genes & repeats	Aorta	Aorta
28	chr11:6193800-6194400	Weak transcription	Aorta	Aorta
29	chr11:6194600-6195000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:6194800-6195200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:6195200-6199400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:6199400-6199800	Enhancers	Lung	lung
33	chr11:6199400-6199800	Enhancers	Right Atrium	heart
34	chr11:6199400-6200200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:6199400-6200800	Enhancers	Left Ventricle	heart
36	chr11:6199600-6199800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:6200000-6201200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:6200200-6200800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr11:6200200-6201400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:6200200-6212600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:6200400-6200600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:6200600-6201200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:6200600-6201400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr11:6200600-6201400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:6200800-6207200	Weak transcription	Left Ventricle	heart
46	chr11:6201200-6201400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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