Variant report

Variant	nsv465792
Chromosome Location	chr8:122329373-122398867
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	chr8:122350930-122351667	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:122368378-122369291	HepG2	liver:	n/a	chr8:122368780-122368796
3	ARID3A	chr8:122362713-122362744	K562	blood:	n/a	n/a
4	ARID3A	chr8:122360529-122361829	HepG2	liver:	n/a	n/a
5	ATF3	chr8:122361043-122361356	HepG2	liver:	n/a	n/a
6	BACH1	chr8:122353996-122354314	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:122355026-122355220	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr8:122360988-122361527	A549	lung:	n/a	chr8:122361366-122361375
9	BHLHE40	chr8:122360948-122361382	HepG2	liver:	n/a	n/a
10	BHLHE40	chr8:122360711-122361636	HepG2	liver:	n/a	n/a
11	BHLHE40	chr8:122360924-122361393	HepG2	liver:	n/a	n/a
12	CBX3	chr8:122360821-122361572	HCT-116	colon:	n/a	n/a
13	CBX3	chr8:122360813-122361605	HCT-116	colon:	n/a	n/a
14	CEBPB	chr8:122366478-122366577	A549	lung:	n/a	chr8:122366520-122366531
15	CEBPB	chr8:122368946-122369318	HepG2	liver:	n/a	chr8:122369056-122369073 chr8:122369127-122369144 chr8:122369132-122369143 chr8:122369130-122369141
16	CEBPB	chr8:122361008-122361395	HepG2	liver:	n/a	n/a
17	CEBPB	chr8:122360938-122361533	HepG2	liver:	n/a	n/a
18	CEBPB	chr8:122351001-122351528	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr8:122361122-122361322	A549	lung:	n/a	n/a
20	CEBPB	chr8:122369074-122369166	H1-hESC	embryonic stem cell:	n/a	chr8:122369127-122369144 chr8:122369132-122369143 chr8:122369130-122369141
21	CEBPB	chr8:122360993-122361367	IMR90	lung:	n/a	n/a
22	CEBPB	chr8:122335994-122336926	IMR90	lung:	n/a	chr8:122336008-122336019
23	CEBPB	chr8:122357691-122358031	IMR90	lung:	n/a	chr8:122357896-122357907 chr8:122357830-122357847
24	CEBPB	chr8:122367717-122368043	IMR90	lung:	n/a	n/a
25	CEBPB	chr8:122355502-122355735	IMR90	lung:	n/a	chr8:122355616-122355629 chr8:122355616-122355627 chr8:122355616-122355629 chr8:122355617-122355628 chr8:122355616-122355627 chr8:122355616-122355629
26	CEBPB	chr8:122350964-122351493	IMR90	lung:	n/a	n/a
27	CEBPB	chr8:122335203-122335441	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr8:122360738-122361644	HCT-116	colon:	n/a	n/a
29	CEBPB	chr8:122360982-122361377	HepG2	liver:	n/a	n/a
30	CEBPB	chr8:122357750-122358013	HepG2	liver:	n/a	chr8:122357896-122357907 chr8:122357830-122357847
31	CEBPB	chr8:122366435-122366649	HepG2	liver:	n/a	chr8:122366520-122366531
32	CEBPB	chr8:122357761-122357942	A549	lung:	n/a	chr8:122357896-122357907 chr8:122357830-122357847
33	CEBPB	chr8:122335022-122335416	HCT-116	colon:	n/a	n/a
34	CEBPB	chr8:122335087-122335459	IMR90	lung:	n/a	n/a
35	CEBPB	chr8:122369066-122369254	HepG2	liver:	n/a	chr8:122369127-122369144 chr8:122369132-122369143 chr8:122369130-122369141
36	CEBPB	chr8:122360836-122361598	HCT-116	colon:	n/a	n/a
37	CEBPB	chr8:122398046-122398315	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr8:122361091-122361401	A549	lung:	n/a	n/a
39	CEBPB	chr8:122360995-122361426	A549	lung:	n/a	n/a
40	CEBPB	chr8:122351071-122351704	HCT-116	colon:	n/a	n/a
41	CEBPB	chr8:122355569-122355732	HepG2	liver:	n/a	chr8:122355616-122355629 chr8:122355616-122355627 chr8:122355616-122355629 chr8:122355617-122355628 chr8:122355616-122355627 chr8:122355616-122355629
42	CEBPB	chr8:122368969-122369296	IMR90	lung:	n/a	chr8:122369056-122369073 chr8:122369127-122369144 chr8:122369132-122369143 chr8:122369130-122369141
43	CEBPD	chr8:122361072-122361320	HepG2	liver:	n/a	n/a
44	CHD2	chr8:122360876-122361624	HepG2	liver:	n/a	n/a
45	CHD2	chr8:122357236-122357392	HepG2	liver:	n/a	n/a
46	CTCF	chr8:122369520-122369670	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr8:122333680-122333830	HAc	cerebellar:	n/a	chr8:122333707-122333716
48	CTCF	chr8:122333580-122333730	HFF	foreskin:	n/a	chr8:122333707-122333716
49	CTCF	chr8:122333640-122333790	HCPEpiC	choroid plexus:	n/a	chr8:122333707-122333716
50	CTCF	chr8:122333645-122333807	MCF-7	breast:	n/a	chr8:122333707-122333716

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:122368294-122368344	BJ	skin:	n/a
2	chr8:122368294-122368344	PFSK-1	brain:	n/a
3	chr8:122368294-122368344	T-47D	breast:	n/a
4	chr8:122368294-122368344	Jurkat	blood:	n/a
5	chr8:122368294-122368344	GM12878	blood:	n/a
6	chr8:122368294-122368344	PrEC	prostate:	n/a
7	chr8:122368294-122368344	HPAEpiC	pulmonary alveolar:	n/a
8	chr8:122368294-122368344	SKMC	muscle:	n/a
9	chr8:122368294-122368344	AG09309	skin:	n/a
10	chr8:122368294-122368344	GM12892	blood:	n/a
11	chr8:122368294-122368344	HRE	kidney:	n/a
12	chr8:122368294-122368344	SK-N-SH	brain:	n/a
13	chr8:122368294-122368344	HRPEpiC	eye:	n/a
14	chr8:122368294-122368344	ECC-1	luminal epithelium:	n/a
15	chr8:122368294-122368344	Hela-S3	cervix:	n/a
16	chr8:122368294-122368344	Caco-2	colon:	n/a
17	chr8:122368294-122368344	ProgFib	skin:	n/a
18	chr8:122368294-122368344	NHBE	bronchial:	n/a
19	chr8:122368294-122368344	MCF-7	breast:	n/a
20	chr8:122368294-122368344	CMK	blood:	n/a
21	chr8:122368294-122368344	AG04449	skin:	fetal
22	chr8:122368294-122368344	GM19239	blood:	n/a
23	chr8:122368294-122368344	K562	blood:	n/a
24	chr8:122368294-122368344	U87	brain:	n/a
25	chr8:122368294-122368344	AG10803	skin:	n/a
26	chr8:122368294-122368344	NT2-D1	testis:	n/a
27	chr8:122368294-122368344	H1-hESC	embryonic stem cell:	embryo
28	chr8:122368294-122368344	AoSMC	blood vessel:	n/a
29	chr8:122368294-122368344	SAEC	small airway:	n/a
30	chr8:122368294-122368344	AG04450	lung:	fetal
31	chr8:122368294-122368344	HCPEpiC	choroid plexus:	n/a
32	chr8:122368294-122368344	GM06990	blood:	n/a
33	chr8:122368294-122368344	HCT-116	colon:	n/a
34	chr8:122368294-122368344	HEK293	kidney:	embryo
35	chr8:122368294-122368344	HAEpiC	amniotic membrane:	n/a
36	chr8:122368294-122368344	BE2_C	brain:	n/a
37	chr8:122368294-122368344	HL-60	blood:	n/a
38	chr8:122368294-122368344	HUVEC	blood vessel:	n/a
39	chr8:122368294-122368344	HRCEpiC	kidney:	n/a
40	chr8:122368294-122368344	ovcar-3	ovarian:	n/a
41	chr8:122368294-122368344	PANC-1	pancreas:	n/a
42	chr8:122368294-122368344	SK-N-MC	brain:	n/a
43	chr8:122368294-122368344	GM12891	blood:	n/a
44	chr8:122368294-122368344	A549	lung:	n/a
45	chr8:122368294-122368344	MCF10A-Er-Src	breast:	n/a
46	chr8:122368294-122368344	SK-N-SH_RA	brain:	n/a
47	chr8:122368294-122368344	NB4	blood:	n/a
48	chr8:122368294-122368344	HepG2	liver:	n/a
49	chr8:122368294-122368344	NHDF-neo	bronchial:	n/a
50	chr8:122368294-122368344	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:122345686..122347422-chr8:122350498..122352863,2	K562	blood:
2	chr8:122386069..122389430-chr8:122390466..122392958,3	MCF-7	breast:
3	chr8:122356358..122358747-chr8:122365054..122366813,2	MCF-7	breast:
4	chr8:122390281..122392027-chr8:122392383..122395198,2	MCF-7	breast:
5	chr6:58777333..58777900-chr8:122346827..122347447,2	MCF-7	breast:
6	chr8:122345625..122347398-chr8:122398466..122401930,3	K562	blood:
7	chr8:122345625..122347398-chr8:122398466..122401930,3	K562	blood:
8	chr8:122357699..122359685-chr8:122361092..122363691,2	MCF-7	breast:
9	chr8:122336290..122338351-chr8:122338998..122341730,2	MCF-7	breast:
10	chr8:122345686..122347422-chr8:122350498..122352863,2	K562	blood:
11	chr8:81782320..81783178-chr8:122393017..122393896,2	MCF-7	breast:
12	chr8:122357699..122359685-chr8:122361092..122363691,2	MCF-7	breast:
13	chr8:122356358..122358747-chr8:122365054..122366813,2	MCF-7	breast:
14	chr8:122336290..122338351-chr8:122338998..122341730,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAS2-4	chr8:122392377-122392705	NONHSAT128463

Variant related genes	Relation type
RPL35AP19	TF binding region
RPL35AP19	CpG island
ENSG00000239872	chromatin interactions

Extended variants
information (count: 2034 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:2034 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386729363	chr8:122329373-122329374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558019325	chr8:122329375-122329376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142582244	chr8:122329377-122329378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181868844	chr8:122329378-122329379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76275229	chr8:122329410-122329411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398096105	chr8:122329417-122329418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114979295	chr8:122329442-122329443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149797265	chr8:122329461-122329462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539901841	chr8:122329489-122329490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553508069	chr8:122329505-122329506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373805215	chr8:122329540-122329541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558874328	chr8:122329576-122329577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35865220	chr8:122329586-122329587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542100081	chr8:122329596-122329597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185458348	chr8:122329623-122329624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575879495	chr8:122329633-122329634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533092779	chr8:122329736-122329737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544909685	chr8:122329762-122329763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189143117	chr8:122329782-122329783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551174860	chr8:122329831-122329832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62528353	chr8:122329898-122329899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551806863	chr8:122329907-122329908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79524303	chr8:122329919-122329920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147467191	chr8:122329924-122329925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139852766	chr8:122329959-122329960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568321616	chr8:122329960-122329961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181599968	chr8:122329965-122329966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145691648	chr8:122329990-122329991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147737973	chr8:122330011-122330012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539889465	chr8:122330035-122330036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553497558	chr8:122330045-122330046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149195393	chr8:122330053-122330054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186181622	chr8:122330084-122330085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555656168	chr8:122330106-122330107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575808441	chr8:122330118-122330119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544459438	chr8:122330165-122330166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191931918	chr8:122330191-122330192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200208519	chr8:122330259-122330260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549168403	chr8:122330269-122330270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566561100	chr8:122330272-122330273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538237252	chr8:122330277-122330278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558031737	chr8:122330322-122330323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576424926	chr8:122330332-122330333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369303355	chr8:122330340-122330341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142381955	chr8:122330347-122330348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567576053	chr8:122330364-122330365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112616679	chr8:122330372-122330373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541925127	chr8:122330398-122330399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376759376	chr8:122330406-122330407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534868821	chr8:122330409-122330410	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Burkitt''s lymphoma	20823134	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122322200-122330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:122327200-122330400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:122328000-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:122328800-122329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122329200-122329600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:122329600-122330800	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:122329800-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:122329800-122331000	Enhancers	Fetal Kidney	kidney
9	chr8:122329800-122332000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:122329800-122332200	Enhancers	HUVEC	blood vessel
11	chr8:122330200-122330800	Enhancers	HepG2	liver
12	chr8:122330200-122331000	Enhancers	NHEK	skin
13	chr8:122330200-122331000	Enhancers	Osteobl	bone
14	chr8:122330200-122331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:122330400-122330800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:122330400-122330800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:122330400-122330800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:122330400-122330800	Enhancers	Hela-S3	cervix
19	chr8:122330400-122330800	Enhancers	NHLF	lung
20	chr8:122330400-122331000	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:122330400-122331000	Enhancers	NH-A	brain
22	chr8:122330400-122331400	Enhancers	HMEC	breast
23	chr8:122330400-122331400	Enhancers	HSMM	muscle
24	chr8:122330800-122333600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:122330800-122333800	Weak transcription	NHLF	lung
26	chr8:122330800-122334400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:122330800-122335000	Weak transcription	Hela-S3	cervix
28	chr8:122330800-122335400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:122331000-122334200	Weak transcription	Osteobl	bone
30	chr8:122331000-122334600	Weak transcription	NH-A	brain
31	chr8:122331000-122334600	Weak transcription	NHEK	skin
32	chr8:122331400-122334600	Weak transcription	HMEC	breast
33	chr8:122331400-122334800	Weak transcription	HSMM	muscle
34	chr8:122331400-122335400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:122332000-122332200	Enhancers	A549	lung
36	chr8:122332000-122332400	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:122332000-122334000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:122332200-122333600	Weak transcription	A549	lung
39	chr8:122332200-122334000	Weak transcription	HUVEC	blood vessel
40	chr8:122333600-122334000	Enhancers	A549	lung
41	chr8:122333600-122337600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:122333800-122334600	Enhancers	NHLF	lung
43	chr8:122334000-122335800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:122334000-122335800	Weak transcription	A549	lung
45	chr8:122334000-122336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:122334000-122337000	Enhancers	HUVEC	blood vessel
47	chr8:122334200-122335800	Enhancers	Osteobl	bone
48	chr8:122334400-122335800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:122334600-122334800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:122334600-122335000	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links