Variant report

Variant	nsv979338
Chromosome Location	chr2:113869830-113880320
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	ARID3A	chr2:113875071-113875082	K562	blood:	n/a	n/a
2	ARID3A	chr2:113875315-113875384	K562	blood:	n/a	n/a
3	ATF2	chr2:113873777-113874112	GM12878	blood:	n/a	n/a
4	ATF2	chr2:113873800-113874120	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:113875070-113875507	K562	blood:	n/a	n/a
6	CEBPB	chr2:113869227-113869883	MCF-7	breast:	n/a	chr2:113869610-113869621
7	CTCF	chr2:113877053-113877085	LNCaP	prostate:	n/a	n/a
8	CTCF	chr2:113875420-113875570	HMEC	breast:	n/a	n/a
9	CUX1	chr2:113874825-113874981	K562	blood:	n/a	n/a
10	CUX1	chr2:113875900-113876065	K562	blood:	n/a	n/a
11	CUX1	chr2:113874484-113874556	GM12878	blood:	n/a	n/a
12	E2F4	chr2:113875089-113875413	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F6	chr2:113875152-113875371	K562	blood:	n/a	n/a
14	EBF1	chr2:113873789-113874376	GM12878	blood:	n/a	chr2:113874030-113874041
15	EBF1	chr2:113873642-113874300	GM12878	blood:	n/a	chr2:113874030-113874041
16	EBF1	chr2:113873829-113874147	GM12878	blood:	n/a	chr2:113874030-113874041
17	EGR1	chr2:113869991-113870339	K562	blood:	n/a	n/a
18	EGR1	chr2:113873923-113874152	GM12878	blood:	n/a	chr2:113874018-113874027
19	EGR1	chr2:113870051-113870337	K562	blood:	n/a	n/a
20	EGR1	chr2:113873927-113874182	GM12878	blood:	n/a	chr2:113874018-113874027
21	EGR1	chr2:113875256-113875520	K562	blood:	n/a	n/a
22	EGR1	chr2:113875116-113875674	MCF-7	breast:	n/a	n/a
23	ELF1	chr2:113873733-113874200	GM12878	blood:	n/a	chr2:113874015-113874026 chr2:113874179-113874190
24	ELF1	chr2:113873759-113874214	GM12878	blood:	n/a	chr2:113874015-113874026 chr2:113874179-113874190
25	EP300	chr2:113875083-113875605	MCF-7	breast:	n/a	n/a
26	EP300	chr2:113875249-113875386	K562	blood:	n/a	n/a
27	ETS1	chr2:113873816-113874235	GM12878	blood:	n/a	chr2:113874018-113874027 chr2:113874019-113874030 chr2:113874018-113874032
28	FOS	chr2:113873709-113873968	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:113873677-113873981	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:113873665-113874069	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:113873668-113873995	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:113874989-113875516	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
33	FOS	chr2:113875075-113875509	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
34	FOS	chr2:113872220-113872320	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:113875049-113875535	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
36	FOS	chr2:113875093-113875509	MCF10A-Er-Src	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
37	FOSL2	chr2:113875037-113875627	MCF-7	breast:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333
38	FOXA1	chr2:113871446-113871614	T-47D	breast:	n/a	chr2:113871564-113871579
39	FOXM1	chr2:113873776-113874130	GM12878	blood:	n/a	n/a
40	GATA1	chr2:113874927-113876326	PBDE	blood:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113876195-113876204 chr2:113875293-113875302 chr2:113876018-113876034 chr2:113875295-113875302
41	GATA3	chr2:113874901-113875843	MCF-7	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
42	GATA3	chr2:113875154-113875525	T-47D	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
43	GATA3	chr2:113875120-113875456	MCF-7	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
44	GATA3	chr2:113875058-113875700	MCF-7	breast:	n/a	chr2:113875293-113875303 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875305 chr2:113875295-113875302 chr2:113875293-113875302 chr2:113875295-113875302
45	GTF2F1	chr2:113870633-113870646	Hela-S3	cervix:	n/a	n/a
46	HCFC1	chr2:113875264-113875401	K562	blood:	n/a	n/a
47	HDAC2	chr2:113875141-113875596	MCF-7	breast:	n/a	chr2:113875294-113875303
48	HMGN3	chr2:113870299-113870319	K562	blood:	n/a	n/a
49	IKZF1	chr2:113873832-113874067	GM12878	blood:	n/a	n/a
50	JUND	chr2:113875162-113875491	K562	blood:	n/a	chr2:113875324-113875332 chr2:113875323-113875333 chr2:113875323-113875334 chr2:113875323-113875333

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113875292-113875342	NT2-D1	testis:	n/a
2	chr2:113875233-113875283	Hela-S3	cervix:	n/a
3	chr2:113875292-113875342	BJ	skin:	n/a
4	chr2:113875226-113875276	HAEpiC	amniotic membrane:	n/a
5	chr2:113875512-113875562	GM12891	blood:	n/a
6	chr2:113875233-113875283	SK-N-SH	brain:	n/a
7	chr2:113875233-113875283	U87	brain:	n/a
8	chr2:113875226-113875276	HRE	kidney:	n/a
9	chr2:113875512-113875562	HUVEC	blood vessel:	n/a
10	chr2:113875723-113875773	ovcar-3	ovarian:	n/a
11	chr2:113875226-113875276	GM06990	blood:	n/a
12	chr2:113875292-113875342	MCF10A-Er-Src	breast:	n/a
13	chr2:113875226-113875276	MCF-7	breast:	n/a
14	chr2:113875226-113875276	NB4	blood:	n/a
15	chr2:113875292-113875342	LNCaP	prostate:	n/a
16	chr2:113874068-113874118	BE2_C	brain:	n/a
17	chr2:113875233-113875283	HCPEpiC	choroid plexus:	n/a
18	chr2:113875723-113875773	HRCEpiC	kidney:	n/a
19	chr2:113875233-113875283	BJ	skin:	n/a
20	chr2:113875723-113875773	Caco-2	colon:	n/a
21	chr2:113875226-113875276	SKMC	muscle:	n/a
22	chr2:113875723-113875773	HCPEpiC	choroid plexus:	n/a
23	chr2:113875292-113875342	BE2_C	brain:	n/a
24	chr2:113875292-113875342	SKMC	muscle:	n/a
25	chr2:113875723-113875773	HL-60	blood:	n/a
26	chr2:113875226-113875276	Hepatocyte	liver:	n/a
27	chr2:113875233-113875283	GM12891	blood:	n/a
28	chr2:113874068-113874118	PrEC	prostate:	n/a
29	chr2:113875723-113875773	ECC-1	luminal epithelium:	n/a
30	chr2:113875512-113875562	GM06990	blood:	n/a
31	chr2:113875512-113875562	AG09309	skin:	n/a
32	chr2:113875233-113875283	SKMC	muscle:	n/a
33	chr2:113875723-113875773	HMEC	breast:	n/a
34	chr2:113875233-113875283	GM06990	blood:	n/a
35	chr2:113875512-113875562	HRCEpiC	kidney:	n/a
36	chr2:113875226-113875276	PrEC	prostate:	n/a
37	chr2:113875233-113875283	HCF	heart:	n/a
38	chr2:113875723-113875773	MCF10A-Er-Src	breast:	n/a
39	chr2:113875226-113875276	K562	blood:	n/a
40	chr2:113875233-113875283	PANC-1	pancreas:	n/a
41	chr2:113875292-113875342	HAEpiC	amniotic membrane:	n/a
42	chr2:113874068-113874118	K562	blood:	n/a
43	chr2:113875226-113875276	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:113875292-113875342	HRPEpiC	eye:	n/a
45	chr2:113875292-113875342	ovcar-3	ovarian:	n/a
46	chr2:113875723-113875773	GM06990	blood:	n/a
47	chr2:113875292-113875342	Caco-2	colon:	n/a
48	chr2:113874068-113874118	U87	brain:	n/a
49	chr2:113875723-113875773	NB4	blood:	n/a
50	chr2:113875723-113875773	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113880075..113882309-chr2:113914138..113916361,2	MCF-7	breast:
2	chr2:113863108..113865660-chr2:113875310..113877504,3	MCF-7	breast:
3	chr2:113873018..113874918-chr2:113881727..113884531,2	MCF-7	breast:
4	chr2:113876674..113878851-chr2:113881622..113884408,2	K562	blood:
5	chr2:113875025..113876736-chr2:113878416..113881099,2	MCF-7	breast:
6	chr2:113869175..113871959-chr2:113873300..113875521,2	MCF-7	breast:
7	chr2:113874395..113876014-chr2:113879125..113882509,3	K562	blood:
8	chr2:113858124..113860722-chr2:113869121..113871284,2	K562	blood:
9	chr2:113874258..113877773-chr2:113883397..113886122,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL1RN-1	chr2:113875114-113875242	NONHSAT073741
2	lnc-IL1RN-1	chr2:113870577-113870691	NONHSAT073741
3	lnc-IL1RN-1	chr2:113870577-113870691	NONHSAT073742
4	lnc-PSD4-5	chr2:113875558-113875605	NONHSAT073743
5	lnc-IL1RN-1	chr2:113873082-113873267	NONHSAT073742

Variant related genes	Relation type
IL1RN	TF binding region
IL1RN	CpG island
ENSG00000125637	chromatin interactions
ENSG00000136689	chromatin interactions

Extended variants
information (count: 488 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386649294	chr2:113869841-113869842	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs315931	chr2:113869843-113869844	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117508219	chr2:113869853-113869854	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35204603	chr2:113869929-113869930	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs315932	chr2:113869977-113869978	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554810134	chr2:113869985-113869986	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs315933	chr2:113869999-113870000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558069615	chr2:113870032-113870033	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537225073	chr2:113870039-113870040	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557124191	chr2:113870058-113870059	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72950890	chr2:113870089-113870090	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72950891	chr2:113870101-113870102	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553001851	chr2:113870103-113870104	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572751981	chr2:113870140-113870141	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543453631	chr2:113870158-113870159	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542167794	chr2:113870186-113870187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146839968	chr2:113870190-113870191	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75099309	chr2:113870207-113870208	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186125768	chr2:113870216-113870217	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113647382	chr2:113870253-113870254	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376650196	chr2:113870258-113870259	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533240746	chr2:113870298-113870299	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190928804	chr2:113870306-113870307	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566763469	chr2:113870311-113870312	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200642866	chr2:113870315-113870316	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74756167	chr2:113870316-113870317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182626856	chr2:113870352-113870353	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536883682	chr2:113870452-113870453	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557183704	chr2:113870471-113870472	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375289365	chr2:113870499-113870500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187774482	chr2:113870502-113870503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553062807	chr2:113870523-113870524	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572763705	chr2:113870549-113870550	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573402712	chr2:113870551-113870552	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535401681	chr2:113870552-113870553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555813154	chr2:113870572-113870573	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575876138	chr2:113870588-113870589	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs191392117	chr2:113870641-113870642	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs17042917	chr2:113870663-113870664	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140628254	chr2:113870668-113870669	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs559533334	chr2:113870673-113870674	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs540346675	chr2:113870708-113870709	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs62158854	chr2:113870725-113870726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529302713	chr2:113870786-113870787	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539554140	chr2:113870839-113870840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10188601	chr2:113870851-113870852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561874341	chr2:113870897-113870898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530823676	chr2:113870922-113870923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567058768	chr2:113870927-113870928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570670089	chr2:113870928-113870929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868200-113871400	Weak transcription	Gastric	stomach
2	chr2:113868600-113870800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113869000-113870200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113869000-113870400	Enhancers	Liver	Liver
6	chr2:113869000-113870400	Enhancers	Placenta	Placenta
7	chr2:113869000-113870400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:113869000-113870600	Bivalent Enhancer	HepG2	liver
9	chr2:113869200-113870400	Enhancers	NHEK	skin
10	chr2:113869200-113872400	Enhancers	Esophagus	oesophagus
11	chr2:113869400-113870000	Weak transcription	Spleen	Spleen
12	chr2:113869400-113870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:113869400-113870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:113869400-113873000	Weak transcription	Stomach Mucosa	stomach
15	chr2:113869600-113870000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:113869800-113870200	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:113869800-113871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:113869800-113872400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:113869800-113873400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:113870000-113870200	Enhancers	Spleen	Spleen
21	chr2:113870000-113870800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr2:113870200-113870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:113870200-113870800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:113870200-113870800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:113870200-113870800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:113870200-113870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:113870200-113870800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:113870200-113871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:113870200-113873000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:113870200-113873000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:113870200-113873200	Weak transcription	Spleen	Spleen
32	chr2:113870400-113870800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:113870400-113870800	Enhancers	K562	blood
34	chr2:113870400-113871400	Weak transcription	Placenta	Placenta
35	chr2:113870400-113871400	Weak transcription	NHEK	skin
36	chr2:113870400-113872800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:113870400-113873400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:113870800-113871800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:113870800-113872600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:113871400-113871600	Enhancers	Primary T cells from cord blood	blood
41	chr2:113871400-113871600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:113871400-113871600	Enhancers	Gastric	stomach
43	chr2:113871400-113873600	Enhancers	Placenta	Placenta
44	chr2:113871400-113874800	Enhancers	NHEK	skin
45	chr2:113871400-113875000	Bivalent Enhancer	HepG2	liver
46	chr2:113871400-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:113871600-113874600	Weak transcription	Gastric	stomach
48	chr2:113871600-113875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:113871800-113872800	Weak transcription	Primary T cells from cord blood	blood
50	chr2:113871800-113873600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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