Variant report

Variant	nsv831455
Chromosome Location	chr8:127681762-127786257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:385)
CpG islands
(count:245)
Chromatin interactive
region (count:49)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:127769872-127769949	K562	blood:	n/a	n/a
2	ATF1	chr8:127765068-127765216	K562	blood:	n/a	n/a
3	BACH1	chr8:127729429-127729431	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr8:127711256-127711501	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr8:127731267-127731490	A549	lung:	n/a	n/a
6	CEBPB	chr8:127711233-127711444	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr8:127708262-127708419	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:127711340-127711490	GM12871	blood:	n/a	n/a
9	CTCF	chr8:127711021-127711746	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:127711259-127711495	HepG2	liver:	n/a	n/a
11	CTCF	chr8:127711252-127711669	K562	blood:	n/a	n/a
12	CTCF	chr8:127711321-127711496	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:127711227-127711554	T-47D	breast:	n/a	n/a
14	CTCF	chr8:127738640-127738790	Caco-2	colon:	n/a	n/a
15	CTCF	chr8:127711320-127711470	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:127711320-127711470	NHLF	lung:	n/a	n/a
17	CTCF	chr8:127711340-127711490	GM12874	blood:	n/a	n/a
18	CTCF	chr8:127711274-127711538	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr8:127711420-127711570	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr8:127711300-127711450	GM12873	blood:	n/a	n/a
21	CTCF	chr8:127711355-127711472	GM12892	blood:	n/a	n/a
22	CTCF	chr8:127711380-127711530	HCM	heart:	n/a	n/a
23	CTCF	chr8:127711320-127711470	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr8:127737880-127738030	A549	lung:	n/a	n/a
25	CTCF	chr8:127738716-127738795	HepG2	liver:	n/a	n/a
26	CTCF	chr8:127738687-127738818	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:127711380-127711530	GM12872	blood:	n/a	n/a
28	CTCF	chr8:127711360-127711510	HCM	heart:	n/a	n/a
29	CTCF	chr8:127711360-127711510	GM12866	blood:	n/a	n/a
30	CTCF	chr8:127782414-127782490	Lung_OC	lung:	n/a	n/a
31	CTCF	chr8:127711286-127711522	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr8:127711320-127711470	GM12873	blood:	n/a	n/a
33	CTCF	chr8:127711237-127711606	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr8:127711320-127711470	SAEC	small airway:	n/a	n/a
35	CTCF	chr8:127711340-127711490	HRE	kidney:	n/a	n/a
36	CTCF	chr8:127711340-127711490	HMEC	breast:	n/a	n/a
37	CTCF	chr8:127738740-127738890	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr8:127711260-127711410	HRE	kidney:	n/a	n/a
39	CTCF	chr8:127738680-127738830	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr8:127711320-127711470	AG04450	lung:	n/a	n/a
41	CTCF	chr8:127711284-127711285	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr8:127711000-127711665	HCT-116	colon:	n/a	n/a
43	CTCF	chr8:127711300-127711450	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:127711304-127711461	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr8:127711340-127711490	HEK293	kidney:	n/a	n/a
46	CTCF	chr8:127711340-127711490	GM12865	blood:	n/a	n/a
47	CTCF	chr8:127711310-127711489	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:127711280-127711430	Caco-2	colon:	n/a	n/a
49	CTCF	chr8:127711340-127711490	HPF	lung:	n/a	n/a
50	CTCF	chr8:127711320-127711470	RPTEC	kidney:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:127725946-127725996	IMR90	lung:	fetal
2	chr8:127725946-127725996	IMR90	lung:	fetal
3	chr8:127748477-127748527	AG04450	lung:	fetal
4	chr8:127727363-127727413	SAEC	small airway:	n/a
5	chr8:127708756-127708806	HCT-116	colon:	n/a
6	chr8:127727363-127727413	GM12878	blood:	n/a
7	chr8:127748477-127748527	U87	brain:	n/a
8	chr8:127748477-127748527	SKMC	muscle:	n/a
9	chr8:127748477-127748527	NHDF-neo	bronchial:	n/a
10	chr8:127708756-127708806	SK-N-SH_RA	brain:	n/a
11	chr8:127727363-127727413	LNCaP	prostate:	n/a
12	chr8:127727363-127727413	K562	blood:	n/a
13	chr8:127725946-127725996	HRPEpiC	eye:	n/a
14	chr8:127725946-127725996	GM12892	blood:	n/a
15	chr8:127748477-127748527	NB4	blood:	n/a
16	chr8:127725946-127725996	HEK293	kidney:	embryo
17	chr8:127727363-127727413	GM12892	blood:	n/a
18	chr8:127725946-127725996	HCF	heart:	n/a
19	chr8:127725946-127725996	AG04449	skin:	fetal
20	chr8:127708756-127708806	NB4	blood:	n/a
21	chr8:127748477-127748527	NHBE	bronchial:	n/a
22	chr8:127748477-127748527	NH-A	brain:	n/a
23	chr8:127725946-127725996	U87	brain:	n/a
24	chr8:127725946-127725996	HRE	kidney:	n/a
25	chr8:127727363-127727413	NHDF-neo	bronchial:	n/a
26	chr8:127727363-127727413	HRPEpiC	eye:	n/a
27	chr8:127748477-127748527	GM12892	blood:	n/a
28	chr8:127708756-127708806	K562	blood:	n/a
29	chr8:127748477-127748527	Hepatocyte	liver:	n/a
30	chr8:127708756-127708806	U87	brain:	n/a
31	chr8:127727363-127727413	AG10803	skin:	n/a
32	chr8:127727363-127727413	SK-N-SH_RA	brain:	n/a
33	chr8:127727363-127727413	IMR90	lung:	fetal
34	chr8:127725946-127725996	NHDF-neo	bronchial:	n/a
35	chr8:127727363-127727413	HCT-116	colon:	n/a
36	chr8:127748477-127748527	T-47D	breast:	n/a
37	chr8:127708756-127708806	AG04449	skin:	fetal
38	chr8:127748477-127748527	SK-N-SH	brain:	n/a
39	chr8:127727363-127727413	AG04450	lung:	fetal
40	chr8:127708756-127708806	GM19239	blood:	n/a
41	chr8:127725946-127725996	SAEC	small airway:	n/a
42	chr8:127727363-127727413	GM12891	blood:	n/a
43	chr8:127727363-127727413	GM19239	blood:	n/a
44	chr8:127748477-127748527	ovcar-3	ovarian:	n/a
45	chr8:127725946-127725996	RPTEC	kidney:	n/a
46	chr8:127727363-127727413	ProgFib	skin:	n/a
47	chr8:127708756-127708806	LNCaP	prostate:	n/a
48	chr8:127725946-127725996	A549	lung:	n/a
49	chr8:127708756-127708806	GM12891	blood:	n/a
50	chr8:127748477-127748527	HUVEC	blood vessel:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:127693268..127695619-chr8:127700970..127702987,2	K562	blood:
2	chr8:127567177..127571479-chr8:127702663..127708389,5	MCF-7	breast:
3	chr8:127701177..127703057-chr8:127705736..127708344,2	MCF-7	breast:
4	chr6:26123808..26125951-chr8:127739183..127742070,2	MCF-7	breast:
5	chr8:127613519..127615212-chr8:127705301..127708229,2	MCF-7	breast:
6	chr8:127570440..127570986-chr8:127710925..127711820,2	MCF-7	breast:
7	chr8:127678496..127681141-chr8:127700140..127703020,2	MCF-7	breast:
8	chr8:127395591..127396682-chr8:127710905..127711817,3	MCF-7	breast:
9	chr8:127769249..127771811-chr8:127773791..127776250,2	MCF-7	breast:
10	chr8:127568595..127570672-chr8:127692558..127694141,2	MCF-7	breast:
11	chr8:127621742..127622469-chr8:127710976..127711784,2	MCF-7	breast:
12	chr8:127566790..127569686-chr8:127722232..127724379,2	MCF-7	breast:
13	chr8:127729140..127731512-chr8:127735125..127737787,2	MCF-7	breast:
14	chr8:127755446..127758027-chr8:127758603..127761301,2	MCF-7	breast:
15	chr8:127569699..127572005-chr8:127694818..127697722,3	MCF-7	breast:
16	chr8:127774231..127776167-chr8:127778627..127781332,2	MCF-7	breast:
17	chr8:127569224..127571221-chr8:127690826..127692496,2	MCF-7	breast:
18	chr8:127748885..127750762-chr8:127757244..127759780,2	MCF-7	breast:
19	chr8:127701177..127703057-chr8:127705736..127708344,2	MCF-7	breast:
20	chr8:127522129..127523251-chr8:127710934..127711873,8	MCF-7	breast:
21	chr8:127729140..127731512-chr8:127735125..127737787,2	MCF-7	breast:
22	chr8:127315944..127316479-chr8:127708944..127709522,2	MCF-7	breast:
23	chr8:127313004..127313840-chr8:127710963..127711826,3	MCF-7	breast:
24	chr8:127755446..127758027-chr8:127758603..127761301,2	MCF-7	breast:
25	chr8:127697579..127699728-chr8:127704498..127707478,2	MCF-7	breast:
26	chr8:127709655..127712053-chr8:128747343..128749788,2	MCF-7	breast:
27	chr8:127578648..127579395-chr8:127710572..127711460,2	MCF-7	breast:
28	chr6:45766362..45769153-chr8:127769934..127772143,2	MCF-7	breast:
29	chr8:127568938..127570883-chr8:127740870..127743793,2	MCF-7	breast:
30	chr8:127697579..127699728-chr8:127704498..127707478,2	MCF-7	breast:
31	chr8:127569403..127572098-chr8:127683450..127685941,3	MCF-7	breast:
32	chr8:127727028..127728994-chr8:127730269..127732018,2	K562	blood:
33	chr8:127567820..127572549-chr8:127699760..127710013,15	MCF-7	breast:
34	chr8:127783239..127785382-chr8:127786529..127788747,2	K562	blood:
35	chr8:127569817..127571758-chr8:127716958..127718883,2	MCF-7	breast:
36	chr8:127568350..127569219-chr8:127710562..127711754,12	MCF-7	breast:
37	chr8:127615999..127616613-chr8:127711024..127711666,2	MCF-7	breast:
38	chr8:127568679..127571625-chr8:127711102..127712749,2	MCF-7	breast:
39	chr8:127693268..127695619-chr8:127700970..127702987,2	K562	blood:
40	chr8:127312968..127313822-chr8:127710873..127711879,4	MCF-7	breast:
41	chr8:127568872..127570435-chr8:127718652..127720364,2	MCF-7	breast:
42	chr8:127698658..127701451-chr8:127706861..127708844,2	MCF-7	breast:
43	chr8:127522396..127523377-chr8:127710899..127711863,4	MCF-7	breast:
44	chr8:127698658..127701451-chr8:127706861..127708844,2	MCF-7	breast:
45	chr8:127583101..127585100-chr8:127708863..127710953,2	MCF-7	breast:
46	chr8:127748885..127750762-chr8:127757244..127759780,2	MCF-7	breast:
47	chr8:127769249..127771811-chr8:127773791..127776250,2	MCF-7	breast:
48	chr8:127774231..127776167-chr8:127778627..127781332,2	MCF-7	breast:
49	chr8:127727028..127728994-chr8:127730269..127732018,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM84B-3	chr8:127779121-127779229	ENSG00000253573
2	lnc-FAM84B-3	chr8:127781646-127781700	XLOC_007212
3	lnc-FAM84B-3	chr8:127781645-127781700	ENSG00000253573
4	lnc-FAM84B-9	chr8:127699397-127699587	l_3681_chr8:127699396-127703765_testes
5	lnc-POU5F1B-3	chr8:127725531-127725660	ENSG00000254286.1
6	lnc-POU5F1B-3	chr8:127688597-127688658	ENSG00000254286.1
7	lnc-POU5F1B-3	chr8:127721163-127721392	ENSG00000254286.1
8	lnc-POU5F1B-3	chr8:127719428-127719485	ENSG00000254286.1
9	lnc-FAM84B-9	chr8:127703702-127703765	l_3681_chr8:127699396-127703765_testes
10	lnc-FAM84B-3	chr8:127781079-127781135	ENSG00000253573
11	lnc-FAM84B-9	chr8:127699590-127699852	l_3681_chr8:127699396-127703765_testes

No data

Variant related genes	Relation type
RNU11-4P	TF binding region
RNU11-4P	CpG island
ENSG00000168672	chromatin interactions
ENSG00000254010	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000254286	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000180596	chromatin interactions
ADCY6	miRNA target sites

Extended variants
information (count: 2796 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:2796 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183386931	chr8:127681797-127681798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149244524	chr8:127681807-127681808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554231268	chr8:127681820-127681821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187717776	chr8:127681821-127681822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368767072	chr8:127681824-127681825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150614172	chr8:127681825-127681826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112522343	chr8:127681851-127681852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368783960	chr8:127681854-127681855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563076365	chr8:127681856-127681857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2385682	chr8:127681857-127681858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28669058	chr8:127681860-127681861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545350605	chr8:127681861-127681862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565285227	chr8:127681862-127681863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527647226	chr8:127681863-127681864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547952006	chr8:127681864-127681865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371513200	chr8:127681865-127681866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111575287	chr8:127681875-127681876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528683366	chr8:127681928-127681929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567760568	chr8:127681945-127681946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546833019	chr8:127681955-127681956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74742177	chr8:127682031-127682032	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150676371	chr8:127682070-127682071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565579040	chr8:127682203-127682204	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565488553	chr8:127682215-127682216	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs140118652	chr8:127682216-127682217	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558529096	chr8:127682236-127682237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10505497	chr8:127682238-127682239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146869610	chr8:127682310-127682311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568756738	chr8:127682334-127682335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71298148	chr8:127682337-127682338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534311947	chr8:127682353-127682354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554269891	chr8:127682374-127682375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4871725	chr8:127682380-127682381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543082920	chr8:127682382-127682383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536287264	chr8:127682423-127682424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556740176	chr8:127682425-127682426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576515466	chr8:127682488-127682489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545693951	chr8:127682530-127682531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35368151	chr8:127682540-127682541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192313175	chr8:127682639-127682640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112684558	chr8:127682640-127682641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146384481	chr8:127682660-127682661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530238867	chr8:127682699-127682700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373458227	chr8:127682730-127682731	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549958789	chr8:127682731-127682732	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377487774	chr8:127682769-127682770	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566804723	chr8:127682774-127682775	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563504407	chr8:127682791-127682792	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs76218477	chr8:127682799-127682800	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552487788	chr8:127682807-127682808	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

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
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
Acute myeloid leukemia	20729466	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
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
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	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
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Gastric cancer	21635755	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127613200-127686800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:127680800-127703800	Weak transcription	Pancreas	Pancrea
3	chr8:127681400-127682000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:127681400-127682200	Enhancers	Fetal Kidney	kidney
5	chr8:127682200-127682800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:127682400-127682800	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:127687400-127692000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:127688400-127689200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:127688800-127693000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:127689200-127692400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:127689400-127689800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:127689400-127690000	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr8:127689800-127690000	Enhancers	Fetal Intestine Large	intestine
14	chr8:127689800-127690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:127690000-127690400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:127690000-127691000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:127690400-127691400	Enhancers	Fetal Intestine Small	intestine
18	chr8:127690800-127691200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:127691000-127691600	Enhancers	Fetal Intestine Large	intestine
20	chr8:127691200-127706000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:127691400-127693600	Weak transcription	Fetal Intestine Small	intestine
22	chr8:127691600-127693800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:127692000-127693200	Enhancers	HUVEC	blood vessel
24	chr8:127692400-127709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:127693000-127693200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:127693600-127694200	Enhancers	Fetal Intestine Small	intestine
27	chr8:127693800-127694200	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:127693800-127694800	Enhancers	Fetal Intestine Large	intestine
29	chr8:127694200-127694800	Active TSS	Duodenum Mucosa	Duodenum
30	chr8:127694200-127694800	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr8:127694800-127695200	Enhancers	Fetal Intestine Small	intestine
32	chr8:127695200-127695600	Weak transcription	Fetal Intestine Small	intestine
33	chr8:127704800-127707600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:127705200-127706000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:127706000-127706200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:127706000-127706800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:127706200-127707600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:127706200-127707600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:127706600-127708400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:127706800-127707800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:127707200-127708400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:127707200-127708800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:127707200-127708800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:127707400-127708000	Enhancers	Brain Hippocampus Middle	brain
45	chr8:127707400-127708400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:127707400-127708600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:127707400-127709000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:127707600-127708000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr8:127707600-127708200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:127707600-127708200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links