Variant report

Variant	esv3406249
Chromosome Location	chr3:133968537-133970760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:453)
CpG islands
(count:427)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:133969629-133969983	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:133969054-133969120	HepG2	liver:	n/a	n/a
3	BACH1	chr3:133969712-133970099	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr3:133968690-133969026	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:133969724-133969911	K562	blood:	n/a	n/a
6	BHLHE40	chr3:133969581-133969850	GM12878	blood:	n/a	chr3:133969655-133969671 chr3:133969583-133969599
7	BRCA1	chr3:133969713-133970025	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr3:133969220-133969279	HepG2	liver:	n/a	n/a
9	CCNT2	chr3:133968957-133970062	K562	blood:	n/a	chr3:133969152-133969161
10	CEBPB	chr3:133970534-133970850	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:133970544-133970756	K562	blood:	n/a	n/a
12	CEBPB	chr3:133969818-133970104	HepG2	liver:	n/a	n/a
13	CEBPB	chr3:133969880-133970152	K562	blood:	n/a	n/a
14	CEBPB	chr3:133970524-133970877	K562	blood:	n/a	n/a
15	CEBPB	chr3:133969792-133970177	IMR90	lung:	n/a	n/a
16	CEBPB	chr3:133970585-133970828	A549	lung:	n/a	n/a
17	CEBPB	chr3:133970621-133971116	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr3:133969823-133970097	A549	lung:	n/a	n/a
19	CEBPB	chr3:133969767-133970076	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr3:133970531-133971120	HepG2	liver:	n/a	n/a
21	CEBPB	chr3:133969777-133970150	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr3:133969772-133970167	MCF-7	breast:	n/a	n/a
23	CEBPB	chr3:133969603-133970155	Hela-S3	cervix:	n/a	n/a
24	CEBPD	chr3:133969450-133969892	HepG2	liver:	n/a	n/a
25	CEBPD	chr3:133969102-133969411	HepG2	liver:	n/a	n/a
26	CHD1	chr3:133969952-133970164	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr3:133968571-133969224	H1-hESC	embryonic stem cell:	n/a	chr3:133969153-133969163
28	CHD2	chr3:133969034-133969198	K562	blood:	n/a	chr3:133969153-133969163
29	CHD2	chr3:133969729-133969945	HepG2	liver:	n/a	n/a
30	CHD2	chr3:133968678-133969977	Hela-S3	cervix:	n/a	chr3:133969153-133969163 chr3:133969235-133969245
31	CHD2	chr3:133969004-133969281	HepG2	liver:	n/a	chr3:133969153-133969163 chr3:133969235-133969245
32	CHD2	chr3:133969808-133969940	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr3:133969607-133969963	GM12878	blood:	n/a	n/a
34	CHD2	chr3:133968911-133969351	GM12878	blood:	n/a	chr3:133969153-133969163 chr3:133969235-133969245
35	CREB1	chr3:133969510-133969884	A549	lung:	n/a	n/a
36	CREB1	chr3:133969545-133969819	K562	blood:	n/a	n/a
37	CTCF	chr3:133969620-133969770	AG04449	skin:	n/a	n/a
38	CTCF	chr3:133969820-133969970	GM12869	blood:	n/a	n/a
39	CTCF	chr3:133969977-133969984	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr3:133969632-133969765	GM12878	blood:	n/a	n/a
41	CTCF	chr3:133969617-133969748	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr3:133969020-133969170	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr3:133969720-133969870	SAEC	small airway:	n/a	n/a
44	CTCF	chr3:133969840-133969990	AG04449	skin:	n/a	n/a
45	CTCF	chr3:133968912-133968947	Pancreas_OC	pancreas:	n/a	n/a
46	E2F1	chr3:133969573-133970073	Hela-S3	cervix:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969587-133969597 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
47	E2F4	chr3:133969690-133969904	GM12878	blood:	n/a	chr3:133969721-133969730
48	E2F4	chr3:133969613-133970090	MCF10A-Er-Src	breast:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
49	E2F4	chr3:133968726-133968829	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F6	chr3:133969088-133969233	K562	blood:	n/a	chr3:133969152-133969161 chr3:133969152-133969164

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133969058-133969108	A549	lung:	n/a
2	chr3:133969591-133969641	NHDF-neo	bronchial:	n/a
3	chr3:133969278-133969328	NHBE	bronchial:	n/a
4	chr3:133970158-133970208	HEK293	kidney:	embryo
5	chr3:133969921-133969971	SAEC	small airway:	n/a
6	chr3:133968920-133968970	HRE	kidney:	n/a
7	chr3:133969278-133969328	HRCEpiC	kidney:	n/a
8	chr3:133969921-133969971	HNPCEpiC	eye:	n/a
9	chr3:133969058-133969108	Jurkat	blood:	n/a
10	chr3:133969921-133969971	AG04450	lung:	fetal
11	chr3:133968920-133968970	HEEpiC	esophagus:	n/a
12	chr3:133969921-133969971	HUVEC	blood vessel:	n/a
13	chr3:133969914-133969964	ProgFib	skin:	n/a
14	chr3:133969914-133969964	U87	brain:	n/a
15	chr3:133969921-133969971	HCT-116	colon:	n/a
16	chr3:133969914-133969964	GM12878	blood:	n/a
17	chr3:133968920-133968970	K562	blood:	n/a
18	chr3:133969921-133969971	NT2-D1	testis:	n/a
19	chr3:133969058-133969108	K562	blood:	n/a
20	chr3:133969591-133969641	ovcar-3	ovarian:	n/a
21	chr3:133968920-133968970	HAEpiC	amniotic membrane:	n/a
22	chr3:133969591-133969641	U87	brain:	n/a
23	chr3:133968920-133968970	Hela-S3	cervix:	n/a
24	chr3:133969278-133969328	H1-hESC	embryonic stem cell:	embryo
25	chr3:133968920-133968970	HEK293	kidney:	embryo
26	chr3:133969591-133969641	Jurkat	blood:	n/a
27	chr3:133969921-133969971	RPTEC	kidney:	n/a
28	chr3:133969914-133969964	IMR90	lung:	fetal
29	chr3:133969591-133969641	NH-A	brain:	n/a
30	chr3:133969591-133969641	AG04450	lung:	fetal
31	chr3:133969278-133969328	HEEpiC	esophagus:	n/a
32	chr3:133969058-133969108	AoSMC	blood vessel:	n/a
33	chr3:133968920-133968970	CMK	blood:	n/a
34	chr3:133969591-133969641	Caco-2	colon:	n/a
35	chr3:133969278-133969328	GM12891	blood:	n/a
36	chr3:133969278-133969328	SK-N-SH	brain:	n/a
37	chr3:133969914-133969964	AG04449	skin:	fetal
38	chr3:133969914-133969964	HCM	heart:	n/a
39	chr3:133969914-133969964	HCPEpiC	choroid plexus:	n/a
40	chr3:133970158-133970208	HepG2	liver:	n/a
41	chr3:133968920-133968970	MCF10A-Er-Src	breast:	n/a
42	chr3:133969591-133969641	HIPEpiC	eye:	n/a
43	chr3:133970158-133970208	LNCaP	prostate:	n/a
44	chr3:133970158-133970208	CMK	blood:	n/a
45	chr3:133969921-133969971	BE2_C	brain:	n/a
46	chr3:133969914-133969964	PANC-1	pancreas:	n/a
47	chr3:133970158-133970208	IMR90	lung:	fetal
48	chr3:133969921-133969971	HRCEpiC	kidney:	n/a
49	chr3:133969591-133969641	GM12891	blood:	n/a
50	chr3:133968920-133968970	HNPCEpiC	eye:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133969091..133969747-chr7:35839773..35840580,2	Hela-S3	cervix:
2	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
3	chr3:22413816..22414336-chr3:133969155..133969870,2	HCT-116	colon:
4	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
5	chr3:133968058..133969986-chr3:134093152..134094854,2	MCF-7	breast:
6	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
7	chr12:102091137..102092560-chr3:133969061..133970004,4	Hela-S3	cervix:
8	chr3:133969194..133969719-chr3:136470769..136471350,2	Hela-S3	cervix:
9	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
10	chr3:133966207..133969204-chr3:134075829..134077344,2	MCF-7	breast:
11	chr3:133970647..133972912-chr3:133975711..133978069,2	MCF-7	breast:
12	chr3:133966982..133969357-chr3:134203200..134205519,3	MCF-7	breast:
13	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
14	chr12:15942011..15942548-chr3:133969611..133970273,2	Hela-S3	cervix:
15	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
16	chr19:10206614..10207226-chr3:133969204..133969782,2	NB4	blood:

No data

Variant related genes	Relation type
RYK	TF binding region
RYK	CpG island
ENSG00000114019	chromatin interactions
ENSG00000122545	chromatin interactions
ENSG00000151789	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000118007	chromatin interactions
ENSG00000240006	chromatin interactions
ENSG00000214289	chromatin interactions
ENSG00000111666	chromatin interactions
ENSG00000151491	chromatin interactions
ENSG00000228878	chromatin interactions
ENSG00000260633	chromatin interactions
ENSG00000130812	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561180186	chr3:133968540-133968541	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs182734522	chr3:133968553-133968554	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs528933885	chr3:133968557-133968558	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs532072700	chr3:133968567-133968568	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs372185463	chr3:133968587-133968588	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs548714312	chr3:133968616-133968617	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs6796130	chr3:133968632-133968633	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs568502217	chr3:133968643-133968644	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs377712341	chr3:133968664-133968665	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs531294771	chr3:133968672-133968673	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs6796214	chr3:133968673-133968674	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs374076726	chr3:133968694-133968695	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs529259019	chr3:133968743-133968744	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs369859498	chr3:133968760-133968761	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs6808692	chr3:133968762-133968763	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs13085089	chr3:133968769-133968770	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs533856205	chr3:133968775-133968776	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs553991251	chr3:133968777-133968778	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs371683932	chr3:133968785-133968786	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs75269718	chr3:133968788-133968789	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs13085100	chr3:133968789-133968790	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs72986432	chr3:133968912-133968913	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191407140	chr3:133968934-133968935	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs374691286	chr3:133968946-133968947	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs556656602	chr3:133968947-133968948	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs183117089	chr3:133968980-133968981	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs6796675	chr3:133969003-133969004	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572684188	chr3:133969008-133969009	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs541389081	chr3:133969011-133969012	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs370423480	chr3:133969040-133969041	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs79912511	chr3:133969048-133969049	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs374725154	chr3:133969113-133969114	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs543617443	chr3:133969138-133969139	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs200791765	chr3:133969152-133969153	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs117080939	chr3:133969164-133969165	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs531325496	chr3:133969216-133969217	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs551319426	chr3:133969232-133969233	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs564758389	chr3:133969342-133969343	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs201505334	chr3:133969348-133969349	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs139860270	chr3:133969352-133969353	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs567577474	chr3:133969356-133969357	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs536406334	chr3:133969357-133969358	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs550024418	chr3:133969427-133969428	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs587770426	chr3:133969437-133969438	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs368961042	chr3:133969438-133969439	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs587744425	chr3:133969487-133969488	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs570101510	chr3:133969592-133969593	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs200139418	chr3:133969656-133969657	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs538792529	chr3:133969704-133969705	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs565684423	chr3:133969715-133969716	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133959000-133968800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:133963400-133968800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:133964000-133968600	Weak transcription	Left Ventricle	heart
4	chr3:133966600-133970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:133967000-133969000	Weak transcription	Spleen	Spleen
6	chr3:133967400-133970400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:133967600-133968600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:133967600-133968600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:133967600-133968800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:133967600-133968800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:133967600-133968800	Flanking Active TSS	Dnd41	blood
12	chr3:133967600-133969000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:133967600-133970200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:133967800-133968600	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr3:133967800-133968800	Weak transcription	Gastric	stomach
16	chr3:133967800-133969000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr3:133967800-133969000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr3:133967800-133969200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:133967800-133969800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:133967800-133970000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr3:133967800-133970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:133967800-133970200	Active TSS	A549	lung
23	chr3:133968000-133968600	Flanking Active TSS	Fetal Lung	lung
24	chr3:133968000-133968600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr3:133968000-133968600	Flanking Active TSS	GM12878-XiMat	blood
26	chr3:133968000-133968800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr3:133968000-133968800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr3:133968000-133968800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr3:133968000-133968800	Flanking Active TSS	Thymus	Thymus
30	chr3:133968000-133968800	Flanking Active TSS	Osteobl	bone
31	chr3:133968000-133969000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr3:133968000-133969000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr3:133968000-133969000	Flanking Active TSS	Fetal Brain Male	brain
34	chr3:133968000-133969000	Flanking Active TSS	HUVEC	blood vessel
35	chr3:133968000-133969200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr3:133968000-133970000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:133968000-133970200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:133968000-133970200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:133968000-133970200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:133968000-133970200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:133968000-133970200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:133968000-133970200	Active TSS	Fetal Intestine Small	intestine
43	chr3:133968000-133970200	Active TSS	Hela-S3	cervix
44	chr3:133968000-133970200	Active TSS	HSMMtube	muscle
45	chr3:133968000-133970200	Active TSS	K562	blood
46	chr3:133968000-133970400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr3:133968000-133970400	Active TSS	HepG2	liver
48	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr3:133968200-133968600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr3:133968200-133968600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links