Variant report

Variant	nsv881232
Chromosome Location	chr5:2150273-2213762
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	ATF1	chr5:2156913-2157111	K562	blood:	n/a	n/a
2	ATF1	chr5:2209347-2209428	K562	blood:	n/a	n/a
3	ATF1	chr5:2211199-2211399	K562	blood:	n/a	n/a
4	BACH1	chr5:2166887-2167061	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr5:2165392-2165603	HepG2	liver:	n/a	n/a
6	BHLHE40	chr5:2208217-2208310	K562	blood:	n/a	chr5:2208235-2208251
7	BHLHE40	chr5:2165383-2165567	K562	blood:	n/a	n/a
8	BRCA1	chr5:2151214-2151224	HepG2	liver:	n/a	n/a
9	BRCA1	chr5:2208225-2208310	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr5:2151300-2151650	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr5:2208129-2208363	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:2211702-2211826	K562	blood:	n/a	n/a
13	CHD2	chr5:2151305-2151637	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr5:2151540-2151690	HEK293	kidney:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
15	CTCF	chr5:2151540-2151690	AG04449	skin:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
16	CTCF	chr5:2208220-2208370	HRE	kidney:	n/a	chr5:2208247-2208265 chr5:2208249-2208270 chr5:2208331-2208344
17	CTCF	chr5:2208082-2208459	H1-hESC	embryonic stem cell:	n/a	chr5:2208247-2208265 chr5:2208249-2208270 chr5:2208393-2208406 chr5:2208331-2208344 chr5:2208396-2208409
18	CTCF	chr5:2151487-2151737	MCF-7	breast:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
19	CTCF	chr5:2208190-2208286	GM19239	blood:	n/a	chr5:2208247-2208265 chr5:2208249-2208270
20	CTCF	chr5:2207860-2208010	HEK293	kidney:	n/a	n/a
21	CTCF	chr5:2151480-2151630	Caco-2	colon:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
22	CTCF	chr5:2151540-2151690	Hela-S3	cervix:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
23	CTCF	chr5:2151540-2151690	GM06990	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
24	CTCF	chr5:2208115-2208409	T-47D	breast:	n/a	chr5:2208247-2208265 chr5:2208249-2208270 chr5:2208393-2208406 chr5:2208331-2208344 chr5:2208396-2208409
25	CTCF	chr5:2151500-2151650	GM12869	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
26	CTCF	chr5:2208160-2208310	SK-N-SH_RA	brain:	n/a	chr5:2208247-2208265 chr5:2208249-2208270
27	CTCF	chr5:2151532-2151687	Kidney_OC	kidney:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
28	CTCF	chr5:2151505-2151718	MCF-7	breast:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
29	CTCF	chr5:2151486-2151746	LNCaP	prostate:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
30	CTCF	chr5:2208140-2208290	HPF	lung:	n/a	chr5:2208247-2208265 chr5:2208249-2208270
31	CTCF	chr5:2151560-2151710	NB4	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
32	CTCF	chr5:2208197-2208317	NHEK	skin:	n/a	chr5:2208247-2208265 chr5:2208249-2208270
33	CTCF	chr5:2151540-2151690	MCF-7	breast:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
34	CTCF	chr5:2206720-2206870	Caco-2	colon:	n/a	n/a
35	CTCF	chr5:2151306-2151328	K562	blood:	n/a	n/a
36	CTCF	chr5:2151540-2151690	GM12873	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
37	CTCF	chr5:2151540-2151690	HMF	breast:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
38	CTCF	chr5:2208080-2208350	A549	lung:	n/a	chr5:2208247-2208265 chr5:2208249-2208270 chr5:2208331-2208344
39	CTCF	chr5:2151497-2151734	GM12878	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
40	CTCF	chr5:2166915-2167052	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:2151205-2151954	SK-N-SH	brain:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
42	CTCF	chr5:2151455-2151741	A549	lung:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
43	CTCF	chr5:2151477-2151717	GM12891	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
44	CTCF	chr5:2151211-2151792	HCT-116	colon:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
45	CTCF	chr5:2208142-2208355	A549	lung:	n/a	chr5:2208247-2208265 chr5:2208249-2208270 chr5:2208331-2208344
46	CTCF	chr5:2151540-2151690	GM12872	blood:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
47	CTCF	chr5:2151460-2151610	GM12870	blood:	n/a	n/a
48	CTCF	chr5:2151540-2151690	HPF	lung:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619
49	CTCF	chr5:2166880-2167030	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr5:2151482-2151742	NHEK	skin:	n/a	chr5:2151602-2151618 chr5:2151596-2151617 chr5:2151601-2151619

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:2164903-2164953	BJ	skin:	n/a
2	chr5:2180418-2180468	AG09319	gingival:	n/a
3	chr5:2169402-2169452	HIPEpiC	eye:	n/a
4	chr5:2169402-2169452	K562	blood:	n/a
5	chr5:2164903-2164953	BJ	skin:	n/a
6	chr5:2180418-2180468	AG09319	gingival:	n/a
7	chr5:2169402-2169452	HIPEpiC	eye:	n/a
8	chr5:2169402-2169452	K562	blood:	n/a
9	chr5:2205990-2206040	HCM	heart:	n/a
10	chr5:2169769-2169819	HCM	heart:	n/a
11	chr5:2206205-2206255	HRPEpiC	eye:	n/a
12	chr5:2176047-2176097	HIPEpiC	eye:	n/a
13	chr5:2175329-2175379	GM12891	blood:	n/a
14	chr5:2186659-2186709	HNPCEpiC	eye:	n/a
15	chr5:2186659-2186709	SAEC	small airway:	n/a
16	chr5:2180252-2180302	ProgFib	skin:	n/a
17	chr5:2205553-2205603	MCF10A-Er-Src	breast:	n/a
18	chr5:2204535-2204585	AG09309	skin:	n/a
19	chr5:2169769-2169819	H1-hESC	embryonic stem cell:	embryo
20	chr5:2204535-2204585	SK-N-MC	brain:	n/a
21	chr5:2205553-2205603	HL-60	blood:	n/a
22	chr5:2205787-2205837	GM19239	blood:	n/a
23	chr5:2180418-2180468	Hepatocyte	liver:	n/a
24	chr5:2206868-2206918	K562	blood:	n/a
25	chr5:2169815-2169865	HAEpiC	amniotic membrane:	n/a
26	chr5:2155809-2155859	SK-N-SH_RA	brain:	n/a
27	chr5:2186856-2186906	Hela-S3	cervix:	n/a
28	chr5:2170036-2170086	HUVEC	blood vessel:	n/a
29	chr5:2205553-2205603	SAEC	small airway:	n/a
30	chr5:2156191-2156241	BJ	skin:	n/a
31	chr5:2197265-2197315	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:2170036-2170086	ECC-1	luminal epithelium:	n/a
33	chr5:2206868-2206918	HRE	kidney:	n/a
34	chr5:2179563-2179613	HEEpiC	esophagus:	n/a
35	chr5:2155809-2155859	K562	blood:	n/a
36	chr5:2164903-2164953	NH-A	brain:	n/a
37	chr5:2180824-2180874	HCT-116	colon:	n/a
38	chr5:2207121-2207171	K562	blood:	n/a
39	chr5:2169371-2169421	HCM	heart:	n/a
40	chr5:2169769-2169819	ECC-1	luminal epithelium:	n/a
41	chr5:2156191-2156241	GM12892	blood:	n/a
42	chr5:2205990-2206040	K562	blood:	n/a
43	chr5:2186856-2186906	HCPEpiC	choroid plexus:	n/a
44	chr5:2169815-2169865	Hepatocyte	liver:	n/a
45	chr5:2169815-2169865	HNPCEpiC	eye:	n/a
46	chr5:2169769-2169819	AG04450	lung:	fetal
47	chr5:2169371-2169421	PFSK-1	brain:	n/a
48	chr5:2206205-2206255	LNCaP	prostate:	n/a
49	chr5:2156191-2156241	SK-N-MC	brain:	n/a
50	chr5:2207121-2207171	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:2164885..2167443-chr5:2167494..2169230,2	K562	blood:
2	chr5:2151523..2154328-chr5:2155802..2158524,2	K562	blood:
3	chr5:1882886..1884587-chr5:2207431..2210324,2	MCF-7	breast:
4	chr5:2151523..2154328-chr5:2155802..2158524,2	K562	blood:
5	chr5:2199358..2202641-chr5:2202750..2204826,3	K562	blood:
6	chr5:2038644..2039215-chr5:2151129..2152096,3	K562	blood:
7	chr5:2211289..2213779-chr5:2754665..2756743,2	MCF-7	breast:
8	chr5:2176104..2179198-chr5:2180274..2184546,3	K562	blood:
9	chr5:2164885..2167443-chr5:2167494..2169230,2	K562	blood:
10	chr5:2177408..2179073-chr5:2187197..2190154,2	MCF-7	breast:
11	chr17:57920977..57923515-chr5:2156185..2159175,2	MCF-7	breast:
12	chr5:2158940..2162569-chr5:2167840..2169762,3	K562	blood:
13	chr5:2157501..2159114-chr5:2160612..2162756,2	K562	blood:
14	chr5:2194335..2197106-chr5:2198597..2201677,3	K562	blood:
15	chr5:2172730..2175692-chr5:2193909..2195679,2	K562	blood:
16	chr5:2196715..2198359-chr5:2200115..2201772,2	MCF-7	breast:
17	chr5:2184241..2186171-chr5:2203581..2206214,2	K562	blood:
18	chr5:2147549..2149132-chr5:2161047..2163097,2	K562	blood:
19	chr5:2211700..2213965-chr5:2215705..2217902,2	K562	blood:
20	chr5:2158940..2162569-chr5:2167840..2169762,3	K562	blood:
21	chr5:2038277..2039385-chr5:2150928..2152028,5	MCF-7	breast:
22	chr5:2177408..2179073-chr5:2187197..2190154,2	MCF-7	breast:
23	chr5:2199358..2202641-chr5:2202750..2204826,3	K562	blood:
24	chr5:2172730..2175692-chr5:2193909..2195679,2	K562	blood:
25	chr5:2194335..2197106-chr5:2198597..2201677,3	K562	blood:
26	chr5:2157501..2159114-chr5:2160612..2162756,2	K562	blood:
27	chr5:2196715..2198359-chr5:2200115..2201772,2	MCF-7	breast:
28	chr5:2176104..2179198-chr5:2180274..2184546,3	K562	blood:
29	chr5:2038456..2039644-chr5:2151099..2152060,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201026	TF binding region
ENSG00000201026	CpG island
ENSG00000201026	chromatin interactions
ENSG00000249116	chromatin interactions

Extended variants
information (count: 2870 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:2870 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7735656	chr5:2150273-2150274	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs192201403	chr5:2150284-2150285	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545799467	chr5:2150291-2150292	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549159370	chr5:2150292-2150293	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183639073	chr5:2150323-2150324	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531777242	chr5:2150370-2150371	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376208985	chr5:2150391-2150392	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564111065	chr5:2150397-2150398	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35778356	chr5:2150480-2150481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11954037	chr5:2150481-2150482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188635156	chr5:2150485-2150486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561645129	chr5:2150493-2150494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567867729	chr5:2150500-2150501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201988465	chr5:2150507-2150508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11951074	chr5:2150508-2150509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572083433	chr5:2150525-2150526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183990868	chr5:2150535-2150536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76091749	chr5:2150599-2150600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536820281	chr5:2150631-2150632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558765390	chr5:2150636-2150637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80139438	chr5:2150637-2150638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551360871	chr5:2150654-2150655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541326442	chr5:2150661-2150662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116809923	chr5:2150688-2150689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56094203	chr5:2150700-2150701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368456199	chr5:2150716-2150717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114830053	chr5:2150763-2150764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533947414	chr5:2150776-2150777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531809465	chr5:2150791-2150792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10064731	chr5:2150805-2150806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570522450	chr5:2150818-2150819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532613929	chr5:2150819-2150820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9312982	chr5:2150825-2150826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138274274	chr5:2150830-2150831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186871119	chr5:2150833-2150834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149630106	chr5:2150852-2150853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529625895	chr5:2150858-2150859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34688705	chr5:2150892-2150893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567674794	chr5:2150919-2150920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375403114	chr5:2150937-2150938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548192008	chr5:2150946-2150947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373515684	chr5:2151008-2151009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569581037	chr5:2151019-2151020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537130414	chr5:2151025-2151026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558730307	chr5:2151062-2151063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79305042	chr5:2151063-2151064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534818809	chr5:2151095-2151096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553267405	chr5:2151132-2151133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574696756	chr5:2151154-2151155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541785189	chr5:2151162-2151163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2148200-2151200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:2148400-2150400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:2148800-2150400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr5:2148800-2150400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:2149200-2150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:2149600-2150400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:2149800-2150400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:2149800-2150400	Active TSS	Spleen	Spleen
9	chr5:2149800-2156400	Weak transcription	Esophagus	oesophagus
10	chr5:2150000-2151000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:2150000-2156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:2150200-2160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:2150400-2151400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:2151000-2151200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:2151200-2157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:2151400-2151600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:2151600-2156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:2153400-2153600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:2156400-2156600	Enhancers	Esophagus	oesophagus
20	chr5:2156400-2158000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:2156400-2159200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:2156400-2159200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:2156600-2157600	Weak transcription	Esophagus	oesophagus
24	chr5:2156800-2157600	Enhancers	NHEK	skin
25	chr5:2157600-2157800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:2157600-2157800	Flanking Active TSS	NHEK	skin
27	chr5:2157600-2158600	Enhancers	Esophagus	oesophagus
28	chr5:2157800-2158000	Enhancers	NHEK	skin
29	chr5:2158000-2158200	Flanking Active TSS	NHEK	skin
30	chr5:2158000-2171000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:2158200-2159000	Enhancers	NHEK	skin
32	chr5:2159800-2160200	Weak transcription	Esophagus	oesophagus
33	chr5:2160000-2160400	Active TSS	Spleen	Spleen
34	chr5:2163200-2164600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:2163200-2166200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:2163400-2163600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:2163400-2163600	Bivalent Enhancer	Right Ventricle	heart
38	chr5:2163400-2166200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:2163600-2164200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:2163600-2165000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:2163800-2164000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr5:2163800-2165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:2163800-2165400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:2163800-2165600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:2163800-2165800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:2164000-2164600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr5:2164000-2165000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:2164000-2166200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr5:2164200-2165200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:2164400-2165800	Enhancers	HUES64 Cell Line	embryonic stem cell

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