Variant report

Variant	nsv1032460
Chromosome Location	chr8:111218857-111470111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:503)
CpG islands
(count:61)
Chromatin interactive
region (count:30)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:111370803-111370846	K562	blood:	n/a	n/a
2	BACH1	chr8:111361264-111361282	K562	blood:	n/a	n/a
3	BATF	chr8:111380529-111380748	GM12878	blood:	n/a	n/a
4	BATF	chr8:111380515-111380775	GM12878	blood:	n/a	n/a
5	BRCA1	chr8:111221834-111221837	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr8:111326135-111326438	IMR90	lung:	n/a	chr8:111326272-111326283
7	CEBPB	chr8:111407057-111407265	HepG2	liver:	n/a	chr8:111407125-111407136
8	CEBPB	chr8:111271067-111271189	HepG2	liver:	n/a	chr8:111271123-111271134
9	CEBPB	chr8:111407619-111407631	K562	blood:	n/a	n/a
10	CEBPB	chr8:111456091-111456215	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr8:111224207-111224474	HepG2	liver:	n/a	chr8:111224294-111224305
12	CEBPB	chr8:111311551-111311683	H1-hESC	embryonic stem cell:	n/a	chr8:111311652-111311663
13	CEBPB	chr8:111326111-111326430	HepG2	liver:	n/a	chr8:111326272-111326283
14	CEBPB	chr8:111470033-111470437	MCF-7	breast:	n/a	n/a
15	CEBPB	chr8:111407564-111407694	HepG2	liver:	n/a	chr8:111407634-111407645
16	CEBPB	chr8:111469908-111470608	MCF-7	breast:	n/a	n/a
17	CEBPB	chr8:111425593-111425738	A549	lung:	n/a	n/a
18	CEBPB	chr8:111326108-111326428	A549	lung:	n/a	chr8:111326272-111326283
19	CEBPB	chr8:111348693-111348897	A549	lung:	n/a	n/a
20	CEBPB	chr8:111311633-111311681	A549	lung:	n/a	chr8:111311652-111311663
21	CEBPB	chr8:111326176-111326371	K562	blood:	n/a	chr8:111326272-111326283
22	CEBPB	chr8:111392636-111392756	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr8:111346863-111346939	HepG2	liver:	n/a	n/a
24	CEBPB	chr8:111407025-111407692	A549	lung:	n/a	chr8:111407634-111407645 chr8:111407125-111407136
25	CEBPB	chr8:111470060-111470420	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr8:111311571-111311766	HepG2	liver:	n/a	chr8:111311652-111311663
27	CREB1	chr8:111380421-111380812	GM12878	blood:	n/a	n/a
28	CTCF	chr8:111365540-111365690	AG09319	gingival:	n/a	chr8:111365573-111365591 chr8:111365575-111365596
29	CTCF	chr8:111365480-111365630	RPTEC	kidney:	n/a	chr8:111365573-111365591 chr8:111365575-111365596
30	CTCF	chr8:111367060-111367210	MCF-7	breast:	n/a	n/a
31	CTCF	chr8:111367040-111367190	GM12874	blood:	n/a	n/a
32	CTCF	chr8:111303300-111303377	HepG2	liver:	n/a	n/a
33	CTCF	chr8:111303307-111303357	A549	lung:	n/a	n/a
34	CTCF	chr8:111366000-111366150	HVMF	connective:	n/a	n/a
35	CTCF	chr8:111367040-111367190	HMEC	breast:	n/a	n/a
36	CTCF	chr8:111366979-111367267	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr8:111365880-111366030	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:111365520-111365670	RPTEC	kidney:	n/a	chr8:111365573-111365591 chr8:111365575-111365596
39	CTCF	chr8:111365525-111365664	Pancreas_OC	pancreas:	n/a	chr8:111365573-111365591 chr8:111365575-111365596
40	CTCF	chr8:111367102-111367253	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr8:111365480-111365630	HPAF	blood vessel:	n/a	chr8:111365573-111365591 chr8:111365575-111365596
42	CTCF	chr8:111414962-111415043	GM20000	blood:	n/a	n/a
43	CTCF	chr8:111258960-111258988	ProgFib	skin:	n/a	n/a
44	CTCF	chr8:111367145-111367148	GM12878	blood:	n/a	n/a
45	CTCF	chr8:111367804-111367837	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:111365540-111365690	NHLF	lung:	n/a	chr8:111365573-111365591 chr8:111365575-111365596
47	CTCF	chr8:111222880-111223030	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:111367080-111367230	HVMF	connective:	n/a	n/a
49	CTCF	chr8:111253015-111253075	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:111367020-111367170	RPTEC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:111342449-111342499	HL-60	blood:	n/a
2	chr8:111342449-111342499	NHBE	bronchial:	n/a
3	chr8:111342449-111342499	SK-N-SH_RA	brain:	n/a
4	chr8:111342449-111342499	AG04450	lung:	fetal
5	chr8:111342449-111342499	SKMC	muscle:	n/a
6	chr8:111342449-111342499	HIPEpiC	eye:	n/a
7	chr8:111342449-111342499	Hela-S3	cervix:	n/a
8	chr8:111342449-111342499	GM12891	blood:	n/a
9	chr8:111342449-111342499	PFSK-1	brain:	n/a
10	chr8:111342449-111342499	Jurkat	blood:	n/a
11	chr8:111342449-111342499	T-47D	breast:	n/a
12	chr8:111342449-111342499	NHDF-neo	bronchial:	n/a
13	chr8:111342449-111342499	ECC-1	luminal epithelium:	n/a
14	chr8:111342449-111342499	HCM	heart:	n/a
15	chr8:111342449-111342499	K562	blood:	n/a
16	chr8:111342449-111342499	A549	lung:	n/a
17	chr8:111342449-111342499	AoSMC	blood vessel:	n/a
18	chr8:111342449-111342499	HAEpiC	amniotic membrane:	n/a
19	chr8:111342449-111342499	BJ	skin:	n/a
20	chr8:111342449-111342499	HMEC	breast:	n/a
21	chr8:111342449-111342499	HRE	kidney:	n/a
22	chr8:111342449-111342499	SAEC	small airway:	n/a
23	chr8:111342449-111342499	SK-N-MC	brain:	n/a
24	chr8:111342449-111342499	BE2_C	brain:	n/a
25	chr8:111342449-111342499	MCF10A-Er-Src	breast:	n/a
26	chr8:111342449-111342499	HCPEpiC	choroid plexus:	n/a
27	chr8:111342449-111342499	NT2-D1	testis:	n/a
28	chr8:111342449-111342499	RPTEC	kidney:	n/a
29	chr8:111342449-111342499	HRCEpiC	kidney:	n/a
30	chr8:111342449-111342499	HUVEC	blood vessel:	n/a
31	chr8:111342449-111342499	HPAEpiC	pulmonary alveolar:	n/a
32	chr8:111342449-111342499	AG09319	gingival:	n/a
33	chr8:111342449-111342499	PrEC	prostate:	n/a
34	chr8:111342449-111342499	HEEpiC	esophagus:	n/a
35	chr8:111342449-111342499	Caco-2	colon:	n/a
36	chr8:111342449-111342499	NH-A	brain:	n/a
37	chr8:111342449-111342499	NB4	blood:	n/a
38	chr8:111342449-111342499	ovcar-3	ovarian:	n/a
39	chr8:111342449-111342499	GM19239	blood:	n/a
40	chr8:111342449-111342499	HEK293	kidney:	embryo
41	chr8:111342449-111342499	LNCaP	prostate:	n/a
42	chr8:111342449-111342499	HepG2	liver:	n/a
43	chr8:111342449-111342499	AG09309	skin:	n/a
44	chr8:111342449-111342499	GM12878	blood:	n/a
45	chr8:111342449-111342499	AG04449	skin:	fetal
46	chr8:111342449-111342499	PANC-1	pancreas:	n/a
47	chr8:111342449-111342499	U87	brain:	n/a
48	chr8:111342449-111342499	GM06990	blood:	n/a
49	chr8:111342449-111342499	HRPEpiC	eye:	n/a
50	chr8:111342449-111342499	ProgFib	skin:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:111338897..111341781-chr8:111343648..111346155,2	MCF-7	breast:
2	chr8:111338897..111341781-chr8:111343648..111346155,2	MCF-7	breast:
3	chr8:111327977..111330779-chr8:111340224..111342460,2	MCF-7	breast:
4	chr8:111246550..111249022-chr8:111251445..111253092,2	MCF-7	breast:
5	chr8:111314340..111317547-chr8:111319236..111321955,3	MCF-7	breast:
6	chr8:111327454..111329140-chr8:111333315..111334824,2	MCF-7	breast:
7	chr8:111318905..111321198-chr8:111339196..111341691,2	MCF-7	breast:
8	chr8:111426432..111429583-chr8:111430116..111432569,3	MCF-7	breast:
9	chr8:111444766..111447245-chr8:111451075..111453827,2	K562	blood:
10	chr8:111365378..111366118-chr8:111834050..111834594,2	MCF-7	breast:
11	chr8:111365043..111367620-chr8:111553595..111556957,3	MCF-7	breast:
12	chr8:111246550..111249022-chr8:111251445..111253092,2	MCF-7	breast:
13	chr8:111426432..111429583-chr8:111430116..111432569,3	MCF-7	breast:
14	chr8:111319864..111321455-chr8:111321699..111324266,2	MCF-7	breast:
15	chr8:111426582..111428380-chr8:111435676..111438119,2	K562	blood:
16	chr8:111327454..111329140-chr8:111333315..111334824,2	MCF-7	breast:
17	chr8:111327977..111330779-chr8:111340224..111342460,2	MCF-7	breast:
18	chr8:111100909..111103732-chr8:111408499..111410564,2	K562	blood:
19	chr8:111295797..111298136-chr8:111298202..111300823,3	MCF-7	breast:
20	chr8:111319864..111321455-chr8:111321699..111324266,2	MCF-7	breast:
21	chr8:111444766..111447245-chr8:111451075..111453827,2	K562	blood:
22	chr7:157675743..157676555-chr8:111424512..111425012,2	Hela-S3	cervix:
23	chr8:111318905..111321198-chr8:111339196..111341691,2	MCF-7	breast:
24	chr8:111314340..111317547-chr8:111319236..111321955,3	MCF-7	breast:
25	chr8:111365308..111365953-chr8:111842805..111843518,2	MCF-7	breast:
26	chr8:100177691..100178432-chr8:111254768..111255288,2	MCF-7	breast:
27	chr8:111213386..111215697-chr8:111216006..111218910,2	MCF-7	breast:
28	chr8:111426582..111428380-chr8:111435676..111438119,2	K562	blood:
29	chr8:111365137..111367407-chr8:111844337..111845381,8	MCF-7	breast:
30	chr8:111295797..111298136-chr8:111298202..111300823,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNV1-1	chr8:111346972-111347538	ENSG00000253956
2	lnc-KCNV1-1	chr8:111356682-111356824	ENSG00000253956
3	lnc-KCNV1-1	chr8:111361774-111361836	ENSG00000253956

No data

Variant related genes	Relation type
ENSG00000253956	TF binding region
ENSG00000253956	CpG island

Extended variants
information (count: 4574 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:4574 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556254500	chr8:111220819-111220820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191601078	chr8:111220860-111220861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141024738	chr8:111220881-111220882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569673077	chr8:111220905-111220906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183005133	chr8:111220946-111220947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187378956	chr8:111220965-111220966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372907717	chr8:111221072-111221073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563368304	chr8:111221110-111221111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192213454	chr8:111221127-111221128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548984833	chr8:111221132-111221133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115179074	chr8:111221161-111221162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572687566	chr8:111221184-111221185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543708093	chr8:111221185-111221186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534636545	chr8:111221254-111221255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541595063	chr8:111221294-111221295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79186552	chr8:111221351-111221352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558599368	chr8:111221387-111221388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371708549	chr8:111221441-111221442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543884448	chr8:111221446-111221447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183279727	chr8:111221458-111221459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138842626	chr8:111221475-111221476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140522507	chr8:111221485-111221486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188002693	chr8:111221502-111221503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12375273	chr8:111221549-111221550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs73704723	chr8:111221557-111221558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573106319	chr8:111221611-111221612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192255620	chr8:111221613-111221614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184645575	chr8:111221743-111221744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577915826	chr8:111221767-111221768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543619252	chr8:111221807-111221808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552430240	chr8:111221878-111221879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138212372	chr8:111221973-111221974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76868802	chr8:111221997-111221998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142244844	chr8:111222003-111222004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149331675	chr8:111222043-111222044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527912184	chr8:111222070-111222071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559404105	chr8:111222089-111222090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528037031	chr8:111222105-111222106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542871706	chr8:111222120-111222121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144592949	chr8:111222163-111222164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571846449	chr8:111222165-111222166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531141810	chr8:111222219-111222220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368093380	chr8:111222237-111222238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189560955	chr8:111222245-111222246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192823367	chr8:111222293-111222294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184026623	chr8:111222295-111222296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375526227	chr8:111222307-111222308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549536095	chr8:111222343-111222344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369894990	chr8:111222408-111222409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79556007	chr8:111222438-111222439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	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
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111220800-111221400	Enhancers	HMEC	breast
2	chr8:111220800-111221400	Enhancers	NHEK	skin
3	chr8:111221200-111221400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:111221200-111221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:111221200-111223400	Enhancers	Fetal Heart	heart
6	chr8:111221400-111221800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:111221400-111222200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:111221400-111222600	Weak transcription	HMEC	breast
9	chr8:111221400-111223000	Weak transcription	NHEK	skin
10	chr8:111221800-111222800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:111222200-111222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:111222600-111223800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:111222600-111224000	Enhancers	HMEC	breast
14	chr8:111222800-111223000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:111223000-111223600	Enhancers	NHEK	skin
16	chr8:111223800-111225200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:111225200-111225600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:111225600-111256400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:111226000-111226400	Active TSS	Right Atrium	heart
20	chr8:111229800-111231800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:111230000-111231000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:111230600-111231000	Enhancers	HMEC	breast
23	chr8:111237800-111238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:111240400-111241400	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:111256400-111258200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:111258200-111273000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:111268400-111268600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:111268600-111270000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:111270000-111270400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:111270000-111270600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:111272000-111272200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:111299600-111300000	Enhancers	Fetal Intestine Large	intestine
33	chr8:111301200-111301600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:111301200-111301800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:111301400-111301800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:111302400-111304800	Enhancers	Fetal Brain Male	brain
37	chr8:111303200-111306200	Enhancers	Fetal Brain Female	brain
38	chr8:111303800-111304000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:111304400-111305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:111304800-111305200	Weak transcription	Fetal Brain Male	brain
41	chr8:111305200-111306000	Enhancers	Fetal Brain Male	brain
42	chr8:111305400-111305800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:111310800-111311000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:111311000-111322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:111321800-111324000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:111322200-111324200	Enhancers	HMEC	breast
47	chr8:111322400-111323000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:111322400-111324200	Enhancers	NHEK	skin
49	chr8:111322600-111324000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:111323000-111323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links