Variant report

Variant	rs376454527
Chromosome Location	chr6:27218978-27218979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr6:27218868-27219061	K562	blood:	n/a	n/a
2	MAX	chr6:27218573-27219998	K562	blood:	n/a	n/a
3	YY1	chr6:27218655-27220079	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr6:27218678-27219909	K562	blood:	n/a	n/a
5	RAD21	chr6:27218962-27219149	A549	lung:	n/a	n/a
6	TAF1	chr6:27218687-27219335	K562	blood:	n/a	n/a
7	CBX3	chr6:27218575-27220172	K562	blood:	n/a	n/a
8	MAX	chr6:27218934-27219340	K562	blood:	n/a	n/a
9	CREB1	chr6:27218655-27219384	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr6:27218428-27220231	K562	blood:	n/a	n/a
11	E2F6	chr6:27218934-27219370	A549	lung:	n/a	n/a
12	MAX	chr6:27218549-27220163	MCF-7	breast:	n/a	n/a
13	MAX	chr6:27218798-27220196	A549	lung:	n/a	n/a
14	ATF2	chr6:27218585-27219274	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr6:27218774-27219189	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr6:27218403-27219867	K562	blood:	n/a	n/a
17	MAX	chr6:27218635-27220214	K562	blood:	n/a	n/a
18	JUND	chr6:27218688-27219960	K562	blood:	n/a	n/a
19	E2F6	chr6:27218276-27219991	K562	blood:	n/a	chr6:27218683-27218695
20	POLR2A	chr6:27218606-27219930	K562	blood:	n/a	n/a
21	MTA3	chr6:27218796-27219262	GM12878	blood:	n/a	n/a
22	E2F6	chr6:27218167-27219373	H1-hESC	embryonic stem cell:	n/a	chr6:27218683-27218695
23	POLR2A	chr6:27218935-27219970	A549	lung:	n/a	n/a
24	SP4	chr6:27218691-27219154	H1-hESC	embryonic stem cell:	n/a	chr6:27219046-27219057 chr6:27218982-27218993
25	POLR2A	chr6:27218790-27219909	MCF10A-Er-Src	breast:	n/a	n/a
26	ZNF143	chr6:27218763-27219148	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBL1XR1	chr6:27218944-27219155	K562	blood:	n/a	n/a
28	POLR2A	chr6:27218718-27219991	MCF-7	breast:	n/a	n/a
29	TCF3	chr6:27218737-27219151	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:27218933-27219911	K562	blood:	n/a	n/a
31	ZEB1	chr6:27218637-27219276	GM12878	blood:	n/a	chr6:27218915-27218924
32	RCOR1	chr6:27218755-27219085	K562	blood:	n/a	n/a
33	POLR2A	chr6:27218937-27219856	K562	blood:	n/a	n/a
34	KAP1	chr6:27218885-27219094	HEK293	kidney:	n/a	n/a
35	POLR2A	chr6:27218696-27220117	SK-N-MC	brain:	n/a	n/a
36	ZBTB7A	chr6:27218535-27219894	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr6:27218749-27220114	HCT-116	colon:	n/a	n/a
38	GABPA	chr6:27218733-27220161	MCF-7	breast:	n/a	n/a
39	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
40	POLR2A	chr6:27218700-27219260	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr6:27218760-27219085	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr6:27218783-27219278	GM12878	blood:	n/a	n/a
43	TCF12	chr6:27218721-27219269	A549	lung:	n/a	n/a
44	YY1	chr6:27218734-27219979	ECC-1	luminal epithelium:	n/a	n/a
45	SP1	chr6:27218708-27219348	H1-hESC	embryonic stem cell:	n/a	chr6:27219294-27219304 chr6:27219294-27219303 chr6:27219293-27219305 chr6:27219046-27219057 chr6:27219295-27219304 chr6:27219293-27219305 chr6:27218982-27218993 chr6:27219295-27219304
46	GABPA	chr6:27218591-27219348	MCF-7	breast:	n/a	n/a
47	TCF12	chr6:27218557-27219250	ECC-1	luminal epithelium:	n/a	n/a
48	ELK1	chr6:27218937-27219212	K562	blood:	n/a	n/a
49	RUNX3	chr6:27218686-27219364	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:27218763-27219875	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27218966-27219016	ProgFib	skin:	n/a
2	chr6:27218966-27219016	AG09309	skin:	n/a
3	chr6:27218966-27219016	HCPEpiC	choroid plexus:	n/a
4	chr6:27218966-27219016	AG04450	lung:	fetal
5	chr6:27218966-27219016	HRPEpiC	eye:	n/a
6	chr6:27218966-27219016	SK-N-SH	brain:	n/a
7	chr6:27218966-27219016	HUVEC	blood vessel:	n/a
8	chr6:27218966-27219016	SKMC	muscle:	n/a
9	chr6:27218966-27219016	HNPCEpiC	eye:	n/a
10	chr6:27218966-27219016	HEK293	kidney:	embryo
11	chr6:27218966-27219016	PFSK-1	brain:	n/a
12	chr6:27218966-27219016	MCF10A-Er-Src	breast:	n/a
13	chr6:27218966-27219016	HIPEpiC	eye:	n/a
14	chr6:27218966-27219016	PrEC	prostate:	n/a
15	chr6:27218966-27219016	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:27218966-27219016	AoSMC	blood vessel:	n/a
17	chr6:27218966-27219016	GM06990	blood:	n/a
18	chr6:27218966-27219016	BE2_C	brain:	n/a
19	chr6:27218966-27219016	HRE	kidney:	n/a
20	chr6:27218966-27219016	SAEC	small airway:	n/a
21	chr6:27218966-27219016	NB4	blood:	n/a
22	chr6:27218966-27219016	HRCEpiC	kidney:	n/a
23	chr6:27218966-27219016	SK-N-MC	brain:	n/a
24	chr6:27218966-27219016	BJ	skin:	n/a
25	chr6:27218966-27219016	K562	blood:	n/a
26	chr6:27218966-27219016	HepG2	liver:	n/a
27	chr6:27218966-27219016	LNCaP	prostate:	n/a
28	chr6:27218966-27219016	MCF-7	breast:	n/a
29	chr6:27218966-27219016	A549	lung:	n/a
30	chr6:27218966-27219016	NT2-D1	testis:	n/a
31	chr6:27218966-27219016	HCM	heart:	n/a
32	chr6:27218966-27219016	Jurkat	blood:	n/a
33	chr6:27218966-27219016	GM19239	blood:	n/a
34	chr6:27218966-27219016	AG10803	skin:	n/a
35	chr6:27218966-27219016	NHDF-neo	bronchial:	n/a
36	chr6:27218966-27219016	GM12892	blood:	n/a
37	chr6:27218966-27219016	RPTEC	kidney:	n/a
38	chr6:27218966-27219016	Hela-S3	cervix:	n/a
39	chr6:27218966-27219016	GM12891	blood:	n/a
40	chr6:27218966-27219016	HL-60	blood:	n/a
41	chr6:27218966-27219016	IMR90	lung:	fetal
42	chr6:27218966-27219016	HMEC	breast:	n/a
43	chr6:27218966-27219016	CMK	blood:	n/a
44	chr6:27218966-27219016	ovcar-3	ovarian:	n/a
45	chr6:27218966-27219016	HEEpiC	esophagus:	n/a
46	chr6:27218966-27219016	NHBE	bronchial:	n/a
47	chr6:27218966-27219016	PANC-1	pancreas:	n/a
48	chr6:27218966-27219016	HAEpiC	amniotic membrane:	n/a
49	chr6:27218966-27219016	GM12878	blood:	n/a
50	chr6:27218966-27219016	T-47D	breast:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27217724..27219322-chr6:27799079..27801494,2	MCF-7	breast:
3	chr6:27099473..27102319-chr6:27217669..27219889,2	K562	blood:
4	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
5	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
6	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:
7	chr6:27218208..27219861-chr6:27859108..27862899,3	K562	blood:

No data

Variant related genes	Relation type
PRSS16	TF binding region
PRSS16	CpG island
ENSG00000265565	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:27218000-27220000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:27218000-27220200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:27218000-27220200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr6:27218200-27219800	Bivalent/Poised TSS	Aorta	Aorta
6	chr6:27218200-27220000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:27218200-27220000	Active TSS	A549	lung
8	chr6:27218200-27220200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:27218200-27220200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:27218200-27220200	Active TSS	Duodenum Mucosa	Duodenum
11	chr6:27218200-27220400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:27218400-27219000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:27218400-27219000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr6:27218400-27219000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:27218400-27219000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:27218400-27219000	Flanking Active TSS	HMEC	breast
17	chr6:27218400-27219200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr6:27218400-27219200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:27218400-27219400	Active TSS	Right Ventricle	heart
20	chr6:27218400-27219800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr6:27218400-27219800	Active TSS	Gastric	stomach
22	chr6:27218400-27219800	Active TSS	Pancreas	Pancrea
23	chr6:27218400-27220000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:27218400-27220000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:27218400-27220000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr6:27218400-27220000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:27218400-27220000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr6:27218400-27220200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:27218400-27220200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:27218400-27220200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr6:27218400-27220400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:27218400-27220600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:27218600-27219000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:27218600-27219000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:27218600-27219000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:27218600-27219000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
37	chr6:27218600-27219200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr6:27218600-27219200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
39	chr6:27218600-27219200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr6:27218600-27219200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr6:27218600-27219200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:27218600-27219200	Bivalent Enhancer	Fetal Heart	heart
43	chr6:27218600-27219400	Active TSS	Rectal Smooth Muscle	rectum
44	chr6:27218600-27219600	Active TSS	Right Atrium	heart
45	chr6:27218600-27219800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr6:27218600-27219800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr6:27218600-27219800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:27218600-27219800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr6:27218600-27219800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
50	chr6:27218600-27219800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links