Variant report

Variant	nsv522963
Chromosome Location	chr1:246696596-246747586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1347)
CpG islands
(count:1161)
Chromatin interactive
region (count:43)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246743156-246743547	K562	blood:	n/a	n/a
2	ARID3A	chr1:246740858-246741585	K562	blood:	n/a	chr1:246741392-246741408 chr1:246741393-246741409
3	ARID3A	chr1:246729459-246729909	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:246745910-246747280	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:246732646-246733496	K562	blood:	n/a	n/a
6	ARID3A	chr1:246745375-246746415	K562	blood:	n/a	n/a
7	ARID3A	chr1:246729530-246729980	K562	blood:	n/a	n/a
8	ARID3A	chr1:246730285-246730981	K562	blood:	n/a	n/a
9	ARID3A	chr1:246740073-246740316	K562	blood:	n/a	n/a
10	ARID3A	chr1:246739546-246739738	K562	blood:	n/a	n/a
11	ARID3A	chr1:246729043-246729235	HepG2	liver:	n/a	n/a
12	ATF1	chr1:246740536-246740756	K562	blood:	n/a	n/a
13	ATF1	chr1:246732872-246733329	K562	blood:	n/a	n/a
14	ATF1	chr1:246730636-246730930	K562	blood:	n/a	n/a
15	ATF1	chr1:246740996-246741399	K562	blood:	n/a	n/a
16	ATF1	chr1:246743229-246743481	K562	blood:	n/a	n/a
17	ATF2	chr1:246729219-246729717	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr1:246729048-246729793	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:246729298-246730096	GM12878	blood:	n/a	n/a
20	ATF2	chr1:246729326-246729950	GM12878	blood:	n/a	n/a
21	ATF3	chr1:246734658-246735052	K562	blood:	n/a	n/a
22	ATF3	chr1:246729333-246729841	A549	lung:	n/a	n/a
23	ATF3	chr1:246729163-246730103	A549	lung:	n/a	n/a
24	BACH1	chr1:246730812-246730950	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr1:246732997-246733252	K562	blood:	n/a	n/a
26	BACH1	chr1:246730246-246730860	K562	blood:	n/a	n/a
27	BACH1	chr1:246729303-246730285	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr1:246729185-246729841	K562	blood:	n/a	n/a
29	BACH1	chr1:246741033-246741336	K562	blood:	n/a	n/a
30	BCL3	chr1:246728974-246730135	A549	lung:	n/a	chr1:246729609-246729618
31	BCL3	chr1:246729188-246730094	A549	lung:	n/a	chr1:246729609-246729618
32	BCLAF1	chr1:246729322-246730368	GM12878	blood:	n/a	chr1:246730329-246730338 chr1:246729609-246729618
33	BCLAF1	chr1:246740984-246741507	K562	blood:	n/a	n/a
34	BCLAF1	chr1:246729321-246730493	GM12878	blood:	n/a	chr1:246730329-246730338 chr1:246729609-246729618
35	BCLAF1	chr1:246729186-246730406	K562	blood:	n/a	chr1:246730329-246730338 chr1:246729609-246729618
36	BHLHE40	chr1:246732671-246732792	GM12878	blood:	n/a	n/a
37	BHLHE40	chr1:246739423-246739805	K562	blood:	n/a	chr1:246739593-246739614 chr1:246739599-246739608 chr1:246739597-246739610 chr1:246739599-246739608 chr1:246739600-246739609
38	BHLHE40	chr1:246745708-246746473	K562	blood:	n/a	n/a
39	BHLHE40	chr1:246734762-246735089	K562	blood:	n/a	n/a
40	BHLHE40	chr1:246741097-246741846	K562	blood:	n/a	n/a
41	BHLHE40	chr1:246729128-246730340	K562	blood:	n/a	n/a
42	BHLHE40	chr1:246729205-246730577	GM12878	blood:	n/a	n/a
43	BHLHE40	chr1:246732995-246733247	GM12878	blood:	n/a	n/a
44	BHLHE40	chr1:246740142-246740277	K562	blood:	n/a	n/a
45	BHLHE40	chr1:246736925-246737078	A549	lung:	n/a	n/a
46	BRCA1	chr1:246729656-246729924	GM12878	blood:	n/a	n/a
47	BRCA1	chr1:246729148-246731037	Hela-S3	cervix:	n/a	chr1:246730282-246730289
48	BRCA1	chr1:246729362-246729742	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr1:246729270-246730083	HepG2	liver:	n/a	n/a
50	CBX3	chr1:246724108-246724521	K562	blood:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246741712-246741762	PFSK-1	brain:	n/a
2	chr1:246730185-246730235	SAEC	small airway:	n/a
3	chr1:246741712-246741762	PFSK-1	brain:	n/a
4	chr1:246730185-246730235	SAEC	small airway:	n/a
5	chr1:246729345-246729395	GM06990	blood:	n/a
6	chr1:246729572-246729622	HNPCEpiC	eye:	n/a
7	chr1:246728677-246728727	T-47D	breast:	n/a
8	chr1:246741712-246741762	HCF	heart:	n/a
9	chr1:246729578-246729628	ProgFib	skin:	n/a
10	chr1:246729572-246729622	HIPEpiC	eye:	n/a
11	chr1:246733057-246733107	GM12892	blood:	n/a
12	chr1:246728663-246728713	A549	lung:	n/a
13	chr1:246729501-246729551	HRPEpiC	eye:	n/a
14	chr1:246717609-246717659	Jurkat	blood:	n/a
15	chr1:246728663-246728713	NB4	blood:	n/a
16	chr1:246733057-246733107	PFSK-1	brain:	n/a
17	chr1:246729459-246729509	T-47D	breast:	n/a
18	chr1:246729345-246729395	BJ	skin:	n/a
19	chr1:246728677-246728727	PrEC	prostate:	n/a
20	chr1:246729572-246729622	HEEpiC	esophagus:	n/a
21	chr1:246729345-246729395	GM19239	blood:	n/a
22	chr1:246728727-246728777	LNCaP	prostate:	n/a
23	chr1:246747488-246747538	HIPEpiC	eye:	n/a
24	chr1:246729875-246729925	NH-A	brain:	n/a
25	chr1:246730185-246730235	HCF	heart:	n/a
26	chr1:246729572-246729622	HCM	heart:	n/a
27	chr1:246747488-246747538	SK-N-MC	brain:	n/a
28	chr1:246729875-246729925	NT2-D1	testis:	n/a
29	chr1:246729669-246729719	Hela-S3	cervix:	n/a
30	chr1:246729585-246729635	HIPEpiC	eye:	n/a
31	chr1:246728663-246728713	HMEC	breast:	n/a
32	chr1:246730188-246730238	HIPEpiC	eye:	n/a
33	chr1:246728677-246728727	HRE	kidney:	n/a
34	chr1:246729578-246729628	MCF-7	breast:	n/a
35	chr1:246729459-246729509	GM12892	blood:	n/a
36	chr1:246741712-246741762	AG09309	skin:	n/a
37	chr1:246729459-246729509	MCF10A-Er-Src	breast:	n/a
38	chr1:246741712-246741762	ProgFib	skin:	n/a
39	chr1:246729669-246729719	K562	blood:	n/a
40	chr1:246729875-246729925	AG09319	gingival:	n/a
41	chr1:246729345-246729395	AG10803	skin:	n/a
42	chr1:246733057-246733107	SK-N-SH	brain:	n/a
43	chr1:246728677-246728727	GM06990	blood:	n/a
44	chr1:246730219-246730269	AG04450	lung:	fetal
45	chr1:246729585-246729635	Jurkat	blood:	n/a
46	chr1:246729875-246729925	SK-N-SH	brain:	n/a
47	chr1:246733057-246733107	MCF10A-Er-Src	breast:	n/a
48	chr1:246733057-246733107	BE2_C	brain:	n/a
49	chr1:246729669-246729719	SKMC	muscle:	n/a
50	chr1:246729585-246729635	AoSMC	blood vessel:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246698102..246699613-chr1:246703690..246706174,2	K562	blood:
2	chr1:246711666..246713604-chr1:246728356..246731058,3	K562	blood:
3	chr1:246685591..246688881-chr1:246727054..246730014,3	K562	blood:
4	chr1:246699626..246702195-chr1:246706012..246708369,2	MCF-7	breast:
5	chr1:246711201..246713601-chr1:246713604..246715628,2	K562	blood:
6	chr1:246703270..246704853-chr1:247491463..247493395,2	K562	blood:
7	chr1:246694155..246697194-chr1:246698575..246701434,3	MCF-7	breast:
8	chr1:246715254..246718890-chr1:246721529..246724491,4	K562	blood:
9	chr1:246729967..246732161-chr22:19156837..19159425,2	K562	blood:
10	chr1:246722538..246724149-chr1:246820776..246822354,2	K562	blood:
11	chr1:246729874..246731842-chr1:246862649..246864902,2	K562	blood:
12	chr1:246692831..246695438-chr1:246704915..246707883,3	K562	blood:
13	chr1:246727699..246730587-chr1:246733873..246736383,3	MCF-7	breast:
14	chr1:246715254..246718890-chr1:246721529..246724491,4	K562	blood:
15	chr1:246728596..246730970-chr1:246745379..246747536,3	MCF-7	breast:
16	chr1:246711201..246713601-chr1:246713604..246715628,2	K562	blood:
17	chr1:246729017..246731987-chr1:246738180..246742192,5	MCF-7	breast:
18	chr1:226185428..226188059-chr1:246740463..246742577,2	K562	blood:
19	chr1:246746503..246747122-chr1:246772184..246772879,2	MCF-7	breast:
20	chr1:246738601..246740180-chr1:246754340..246756772,2	MCF-7	breast:
21	chr1:246660669..246662784-chr1:246700415..246702206,2	MCF-7	breast:
22	chr1:246704378..246705938-chr1:246830141..246833108,2	K562	blood:
23	chr1:246694155..246697194-chr1:246698575..246701434,3	MCF-7	breast:
24	chr1:246698102..246699613-chr1:246703690..246706174,2	K562	blood:
25	chr1:246668302..246670787-chr1:246727323..246729930,4	MCF-7	breast:
26	chr1:246728909..246731573-chr1:246733348..246738076,5	MCF-7	breast:
27	chr1:246730131..246732589-chr1:246747162..246749763,2	MCF-7	breast:
28	chr1:246724443..246726246-chr1:246728599..246730567,2	MCF-7	breast:
29	chr1:246693616..246696084-chr1:246696950..246700656,3	K562	blood:
30	chr1:246746217..246748591-chr1:246759216..246761418,2	K562	blood:
31	chr1:246729197..246730166-chr14:75745608..75746363,2	Hela-S3	cervix:
32	chr1:246697803..246699754-chr1:246703795..246706062,2	K562	blood:
33	chr1:246739822..246741667-chr1:246766063..246767788,2	K562	blood:
34	chr1:246730131..246732589-chr1:246747162..246749763,2	MCF-7	breast:
35	chr1:19638692..19639192-chr1:246729163..246730124,2	Hela-S3	cervix:
36	chr1:246699626..246702195-chr1:246706012..246708369,2	MCF-7	breast:
37	chr1:246715254..246717905-chr1:246720739..246723913,4	K562	blood:
38	chr1:246745344..246746994-chr1:246750206..246751877,2	MCF-7	breast:
39	chr1:246668048..246670638-chr1:246738189..246740927,2	K562	blood:
40	chr1:246729068..246729614-chr3:149530492..149531281,2	Hela-S3	cervix:
41	chr1:246719266..246723453-chr1:246727295..246731122,5	MCF-7	breast:
42	chr1:246697803..246699754-chr1:246703795..246706062,2	K562	blood:
43	chr1:246715254..246717905-chr1:246720739..246723913,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMYD3-4	chr1:246714169-246714819	NONHSAT010710
2	lnc-SMYD3-4	chr1:246715093-246715408	NONHSAT010710

No data

Variant related genes	Relation type
CNST	TF binding region
TFB2M	TF binding region
ENSG00000229112	TF binding region
CNST	CpG island
TFB2M	CpG island
ENSG00000229112	CpG island
ENSG00000170345	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000040487	chromatin interactions
ENSG00000227728	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000260924	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000242042	chromatin interactions
ENSG00000162851	chromatin interactions

Extended variants
information (count: 2531 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2531 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10924772	chr1:246696596-246696597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139021607	chr1:246696622-246696623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192692536	chr1:246696669-246696670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560926558	chr1:246696694-246696695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184503124	chr1:246696707-246696708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549625951	chr1:246696717-246696718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566381202	chr1:246696731-246696732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535188270	chr1:246696847-246696848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551996749	chr1:246696905-246696906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76570234	chr1:246697007-246697008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577738998	chr1:246697035-246697036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142199892	chr1:246697117-246697118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573950168	chr1:246697140-246697141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369720114	chr1:246697178-246697179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112837717	chr1:246697186-246697187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552807775	chr1:246697223-246697224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76491107	chr1:246697268-246697269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374109307	chr1:246697288-246697289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2105133	chr1:246697402-246697403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370013558	chr1:246697415-246697416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575380820	chr1:246697422-246697423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2095693	chr1:246697595-246697596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189207398	chr1:246697680-246697681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3124102	chr1:246697683-246697684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181219076	chr1:246697692-246697693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2105134	chr1:246697698-246697699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528793844	chr1:246697704-246697705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572358056	chr1:246697732-246697733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538457400	chr1:246697734-246697735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571797239	chr1:246697735-246697736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186249556	chr1:246697741-246697742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551005424	chr1:246697771-246697772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567662712	chr1:246697804-246697805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189918526	chr1:246697830-246697831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552943390	chr1:246697835-246697836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370381440	chr1:246697860-246697861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180723926	chr1:246697903-246697904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372970949	chr1:246697913-246697914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376503041	chr1:246697915-246697916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558444459	chr1:246697930-246697931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575370887	chr1:246697947-246697948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572153769	chr1:246697968-246697969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544083400	chr1:246697969-246697970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185098269	chr1:246698013-246698014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554611682	chr1:246698023-246698024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574439283	chr1:246698097-246698098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570516274	chr1:246698146-246698147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540376047	chr1:246698184-246698185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560170810	chr1:246698196-246698197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3120692	chr1:246698232-246698233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:2226 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246691200-246703000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:246691400-246702000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:246694400-246704000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:246694400-246704200	Weak transcription	Left Ventricle	heart
5	chr1:246694600-246706600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:246694800-246706600	Weak transcription	Right Ventricle	heart
7	chr1:246696600-246697200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:246696600-246697400	Enhancers	Lung	lung
9	chr1:246697400-246704200	Weak transcription	Lung	lung
10	chr1:246697800-246698000	Enhancers	Small Intestine	intestine
11	chr1:246698000-246705000	Weak transcription	Small Intestine	intestine
12	chr1:246698200-246700400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:246698200-246703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:246698200-246705800	Weak transcription	NHLF	lung
15	chr1:246698800-246703000	Weak transcription	Ovary	ovary
16	chr1:246699000-246702200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:246699200-246701400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:246699200-246702200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:246699200-246705800	Weak transcription	HUVEC	blood vessel
20	chr1:246699400-246701800	Weak transcription	Liver	Liver
21	chr1:246699400-246702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:246699400-246706200	Weak transcription	Spleen	Spleen
23	chr1:246699600-246701600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:246699600-246702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:246699600-246702200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:246699600-246703200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:246699600-246704200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:246699600-246704200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:246699800-246702000	Weak transcription	Primary T cells from cord blood	blood
30	chr1:246699800-246702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:246699800-246703200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:246699800-246703800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:246699800-246704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:246699800-246704200	Weak transcription	GM12878-XiMat	blood
35	chr1:246699800-246704600	Weak transcription	Aorta	Aorta
36	chr1:246699800-246705200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:246699800-246705200	Weak transcription	NHDF-Ad	bronchial
38	chr1:246700000-246702000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:246700000-246702000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:246700000-246702800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:246700000-246704200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:246700000-246705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:246700200-246702000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:246700200-246702000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:246700200-246702200	Weak transcription	Adipose Nuclei	Adipose
46	chr1:246700200-246702200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:246700200-246702200	Weak transcription	Fetal Stomach	stomach
48	chr1:246700200-246702400	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:246700200-246703000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:246700200-246703800	Weak transcription	Primary hematopoietic stem cells	blood

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