Variant report

Variant	nsv582533
Chromosome Location	chr2:101086151-101103384
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	BHLHE40	chr2:101099308-101099490	K562	blood:	n/a	n/a
2	CEBPB	chr2:101097505-101097647	HepG2	liver:	n/a	chr2:101097552-101097563
3	CEBPB	chr2:101093481-101093639	HepG2	liver:	n/a	n/a
4	CHD2	chr2:101087537-101087617	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:101099349-101099426	Medullo	brain:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
6	CTCF	chr2:101099320-101099470	GM12875	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
7	CTCF	chr2:101099360-101099510	MCF-7	breast:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
8	CTCF	chr2:101099274-101099590	H1-hESC	embryonic stem cell:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
9	CTCF	chr2:101099268-101099499	GM19240	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
10	CTCF	chr2:101099300-101099502	GM13977	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
11	CTCF	chr2:101099340-101099490	AG04449	skin:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
12	CTCF	chr2:101099267-101099583	K562	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
13	CTCF	chr2:101099340-101099490	SK-N-SH_RA	brain:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
14	CTCF	chr2:101099280-101099430	GM12864	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
15	CTCF	chr2:101099312-101099466	ProgFib	skin:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
16	CTCF	chr2:101099304-101099485	MCF-7	breast:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
17	CTCF	chr2:101100951-101101194	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:101099316-101099491	Fibrobl	skin:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
19	CTCF	chr2:101099300-101099450	HCPEpiC	choroid plexus:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
20	CTCF	chr2:101099320-101099470	GM12873	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
21	CTCF	chr2:101099309-101099500	HUVEC	blood vessel:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
22	CTCF	chr2:101099281-101099489	Gliobla	brain:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
23	CTCF	chr2:101099360-101099510	HAc	cerebellar:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
24	CTCF	chr2:101099305-101099490	HepG2	liver:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
25	CTCF	chr2:101099340-101099490	GM12872	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
26	CTCF	chr2:101099267-101099510	K562	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
27	CTCF	chr2:101099280-101099430	AG09319	gingival:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
28	CTCF	chr2:101100280-101100430	GM12872	blood:	n/a	n/a
29	CTCF	chr2:101099280-101099430	BJ	skin:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
30	CTCF	chr2:101099299-101099492	MCF-7	breast:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
31	CTCF	chr2:101099223-101099537	GM12878	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
32	CTCF	chr2:101099360-101099510	HRE	kidney:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
33	CTCF	chr2:101099283-101099502	GM12892	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
34	CTCF	chr2:101099260-101099410	GM12870	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
35	CTCF	chr2:101099280-101099430	HA-sp	spinal cord:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
36	CTCF	chr2:101099280-101099430	GM12869	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
37	CTCF	chr2:101099339-101099489	Hela-S3	cervix:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
38	CTCF	chr2:101099300-101099450	GM12878	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
39	CTCF	chr2:101099260-101099410	GM12872	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
40	CTCF	chr2:101100865-101101151	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:101099280-101099430	HBMEC	blood vessel:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
42	CTCF	chr2:101099282-101099502	GM19238	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
43	CTCF	chr2:101099260-101099410	GM12878	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
44	CTCF	chr2:101099260-101099410	GM12871	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
45	CTCF	chr2:101100992-101101131	GM12892	blood:	n/a	n/a
46	CTCF	chr2:101099260-101099410	GM12867	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
47	CTCF	chr2:101099301-101099467	GM10266	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
48	CTCF	chr2:101099320-101099470	MCF-7	breast:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
49	CTCF	chr2:101099340-101099490	GM12868	blood:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410
50	CTCF	chr2:101099260-101099410	HBMEC	blood vessel:	n/a	chr2:101099387-101099405 chr2:101099390-101099399 chr2:101099389-101099410

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:101087575-101087625	BE2_C	brain:	n/a
2	chr2:101086756-101086806	NT2-D1	testis:	n/a
3	chr2:101086756-101086806	SK-N-MC	brain:	n/a
4	chr2:101086893-101086943	GM12891	blood:	n/a
5	chr2:101086756-101086806	BJ	skin:	n/a
6	chr2:101086893-101086943	SK-N-MC	brain:	n/a
7	chr2:101086756-101086806	GM12878	blood:	n/a
8	chr2:101087575-101087625	HRCEpiC	kidney:	n/a
9	chr2:101086893-101086943	H1-hESC	embryonic stem cell:	embryo
10	chr2:101087575-101087625	PANC-1	pancreas:	n/a
11	chr2:101086893-101086943	SK-N-SH	brain:	n/a
12	chr2:101087575-101087625	AG04450	lung:	fetal
13	chr2:101086756-101086806	H1-hESC	embryonic stem cell:	embryo
14	chr2:101086963-101087013	AG09319	gingival:	n/a
15	chr2:101086963-101087013	HMEC	breast:	n/a
16	chr2:101086756-101086806	SAEC	small airway:	n/a
17	chr2:101086963-101087013	HRPEpiC	eye:	n/a
18	chr2:101086963-101087013	NHBE	bronchial:	n/a
19	chr2:101086893-101086943	AG10803	skin:	n/a
20	chr2:101086963-101087013	PrEC	prostate:	n/a
21	chr2:101086756-101086806	Jurkat	blood:	n/a
22	chr2:101086756-101086806	SK-N-SH_RA	brain:	n/a
23	chr2:101086756-101086806	HIPEpiC	eye:	n/a
24	chr2:101086963-101087013	HCM	heart:	n/a
25	chr2:101086893-101086943	ECC-1	luminal epithelium:	n/a
26	chr2:101086893-101086943	GM06990	blood:	n/a
27	chr2:101086963-101087013	AoSMC	blood vessel:	n/a
28	chr2:101086893-101086943	HRPEpiC	eye:	n/a
29	chr2:101086756-101086806	HepG2	liver:	n/a
30	chr2:101086756-101086806	AG04450	lung:	fetal
31	chr2:101086963-101087013	SAEC	small airway:	n/a
32	chr2:101086963-101087013	HNPCEpiC	eye:	n/a
33	chr2:101086893-101086943	HRE	kidney:	n/a
34	chr2:101086893-101086943	Jurkat	blood:	n/a
35	chr2:101086963-101087013	AG04449	skin:	fetal
36	chr2:101086756-101086806	HCF	heart:	n/a
37	chr2:101086756-101086806	GM06990	blood:	n/a
38	chr2:101086893-101086943	BJ	skin:	n/a
39	chr2:101087575-101087625	NHBE	bronchial:	n/a
40	chr2:101086756-101086806	HCM	heart:	n/a
41	chr2:101086963-101087013	Hepatocyte	liver:	n/a
42	chr2:101086893-101086943	PANC-1	pancreas:	n/a
43	chr2:101087575-101087625	AoSMC	blood vessel:	n/a
44	chr2:101086963-101087013	HRE	kidney:	n/a
45	chr2:101087575-101087625	CMK	blood:	n/a
46	chr2:101086893-101086943	GM12878	blood:	n/a
47	chr2:101086756-101086806	ECC-1	luminal epithelium:	n/a
48	chr2:101087575-101087625	NT2-D1	testis:	n/a
49	chr2:101086756-101086806	SK-N-SH	brain:	n/a
50	chr2:101086893-101086943	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:101100078..101102240-chr2:101176769..101179380,2	K562	blood:
2	chr2:101087589..101089414-chr2:101093302..101095563,2	K562	blood:
3	chr2:101087589..101089414-chr2:101093302..101095563,2	K562	blood:
4	chr2:101101769..101103821-chr2:101257032..101259375,2	K562	blood:

Variant related genes	Relation type
NMS	TF binding region
NMS	CpG island
ENSG00000115539	chromatin interactions

Extended variants
information (count: 403 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10166865	chr2:101086151-101086152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186545935	chr2:101086180-101086181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190943430	chr2:101086201-101086202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556515436	chr2:101086209-101086210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150305331	chr2:101086214-101086215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182888109	chr2:101086257-101086258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537779516	chr2:101086290-101086291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562163171	chr2:101086318-101086319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572575268	chr2:101086320-101086321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540731807	chr2:101086362-101086363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556114059	chr2:101086368-101086369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563799116	chr2:101086370-101086371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532855016	chr2:101086391-101086392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574396584	chr2:101086396-101086397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10203739	chr2:101086422-101086423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376243148	chr2:101086427-101086428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186616416	chr2:101086454-101086455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537097168	chr2:101086483-101086484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572184074	chr2:101086484-101086485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149541166	chr2:101086488-101086489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144114814	chr2:101086538-101086539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59335919	chr2:101086553-101086554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532841598	chr2:101086577-101086578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551032795	chr2:101086652-101086653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529189164	chr2:101086702-101086703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549231367	chr2:101086771-101086772	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs6755846	chr2:101086799-101086800	Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375595217	chr2:101086802-101086803	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs138830523	chr2:101086803-101086804	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs529999344	chr2:101086837-101086838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548574163	chr2:101086856-101086857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551591146	chr2:101086873-101086874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13385681	chr2:101086894-101086895	Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs142782392	chr2:101086898-101086899	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs112797837	chr2:101086913-101086914	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs369594294	chr2:101086920-101086921	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs373653693	chr2:101086925-101086926	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs191121983	chr2:101086941-101086942	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs59029020	chr2:101086951-101086952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76201870	chr2:101086952-101086953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183314287	chr2:101086964-101086965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13411940	chr2:101086966-101086967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368599926	chr2:101087077-101087078	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs564338121	chr2:101087078-101087079	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs577352628	chr2:101087082-101087083	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs142859719	chr2:101087102-101087103	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs13414632	chr2:101087104-101087105	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs528834233	chr2:101087128-101087129	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs150623769	chr2:101087134-101087135	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs559637073	chr2:101087161-101087162	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101085400-101086600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:101086600-101087000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:101086800-101087000	Enhancers	Spleen	Spleen
4	chr2:101087000-101087200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:101087200-101087400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:101087200-101087400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:101095400-101095600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:101095600-101104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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