Variant report

Variant	rs576189672
Chromosome Location	chr15:27112242-27112243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:27112087-27112249	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr15:27111959-27112642	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr15:27112160-27112310	A549	lung:	n/a	n/a
4	EP300	chr15:27111742-27112327	A549	lung:	n/a	n/a
5	CTCF	chr15:27112120-27112270	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr15:27112140-27112290	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr15:27112120-27112270	HMEC	breast:	n/a	n/a
8	TAF7	chr15:27111915-27112324	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr15:27112056-27112263	HepG2	liver:	n/a	n/a
10	CTCF	chr15:27112120-27112270	HCFaa	heart:	n/a	n/a
11	CTCF	chr15:27112100-27112250	HMF	breast:	n/a	n/a
12	CTCF	chr15:27112180-27112330	BE2_C	brain:	n/a	n/a
13	CTCF	chr15:27112140-27112290	NHEK	skin:	n/a	n/a
14	CTCF	chr15:27112120-27112270	HepG2	liver:	n/a	n/a
15	MAX	chr15:27111395-27113536	A549	lung:	n/a	n/a
16	CTCF	chr15:27112120-27112270	AG09309	skin:	n/a	n/a
17	TBP	chr15:27111920-27112304	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr15:27112120-27112262	K562	blood:	n/a	n/a
19	CTCF	chr15:27111919-27112309	A549	lung:	n/a	n/a
20	RAD21	chr15:27112076-27112257	K562	blood:	n/a	n/a
21	CTCF	chr15:27112106-27112280	ProgFib	skin:	n/a	n/a
22	POLR2A	chr15:27112125-27112316	A549	lung:	n/a	n/a
23	CTCF	chr15:27112100-27112250	HRPEpiC	eye:	n/a	n/a
24	TCF12	chr15:27111523-27112330	A549	lung:	n/a	chr15:27111656-27111666
25	E2F6	chr15:27112126-27112273	K562	blood:	n/a	n/a
26	RAD21	chr15:27111859-27112325	A549	lung:	n/a	chr15:27112043-27112055
27	CTCF	chr15:27112100-27112250	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr15:27112100-27112250	AG09319	gingival:	n/a	n/a
29	E2F6	chr15:27112107-27112294	K562	blood:	n/a	n/a
30	CTCF	chr15:27112019-27112277	T-47D	breast:	n/a	n/a
31	YY1	chr15:27111847-27112276	A549	lung:	n/a	chr15:27112142-27112151
32	CTCF	chr15:27112180-27112330	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr15:27111848-27112317	A549	lung:	n/a	n/a
34	RAD21	chr15:27111906-27112389	H1-hESC	embryonic stem cell:	n/a	chr15:27112043-27112055
35	RAD21	chr15:27111941-27112366	H1-hESC	embryonic stem cell:	n/a	chr15:27112043-27112055
36	CTCF	chr15:27111906-27112377	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF143	chr15:27111977-27112336	H1-hESC	embryonic stem cell:	n/a	chr15:27112030-27112040
38	CTCF	chr15:27112094-27112255	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr15:27112043-27112279	K562	blood:	n/a	n/a
40	RAD21	chr15:27111870-27112447	H1-hESC	embryonic stem cell:	n/a	chr15:27112043-27112055
41	CTCF	chr15:27112140-27112290	BJ	skin:	n/a	n/a
42	CTCF	chr15:27112140-27112290	AG04450	lung:	n/a	n/a
43	JUND	chr15:27111746-27112310	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr15:27112100-27112250	AG04449	skin:	n/a	n/a
45	CTCF	chr15:27112053-27112326	A549	lung:	n/a	n/a
46	MAX	chr15:27111843-27113545	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr15:27112120-27112270	HEK293	kidney:	n/a	n/a
48	E2F6	chr15:27111882-27112585	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112387
49	CTCF	chr15:27112100-27112250	RPTEC	kidney:	n/a	n/a
50	MXI1	chr15:27111964-27112270	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:27112197-27112247	LNCaP	prostate:	n/a
2	chr15:27112197-27112247	HUVEC	blood vessel:	n/a
3	chr15:27112197-27112247	HCM	heart:	n/a
4	chr15:27112197-27112247	AG09319	gingival:	n/a
5	chr15:27112197-27112247	CMK	blood:	n/a
6	chr15:27112197-27112247	GM06990	blood:	n/a
7	chr15:27112197-27112247	SK-N-MC	brain:	n/a
8	chr15:27112197-27112247	HCT-116	colon:	n/a
9	chr15:27112197-27112247	Caco-2	colon:	n/a
10	chr15:27112197-27112247	T-47D	breast:	n/a
11	chr15:27112197-27112247	PFSK-1	brain:	n/a
12	chr15:27112197-27112247	SK-N-SH_RA	brain:	n/a
13	chr15:27112197-27112247	HIPEpiC	eye:	n/a
14	chr15:27112197-27112247	BE2_C	brain:	n/a
15	chr15:27112197-27112247	Jurkat	blood:	n/a
16	chr15:27112197-27112247	NHBE	bronchial:	n/a
17	chr15:27112197-27112247	NT2-D1	testis:	n/a
18	chr15:27112197-27112247	MCF10A-Er-Src	breast:	n/a
19	chr15:27112197-27112247	HPAEpiC	pulmonary alveolar:	n/a
20	chr15:27112197-27112247	PANC-1	pancreas:	n/a
21	chr15:27112197-27112247	HRCEpiC	kidney:	n/a
22	chr15:27112197-27112247	IMR90	lung:	fetal
23	chr15:27112197-27112247	ECC-1	luminal epithelium:	n/a
24	chr15:27112197-27112247	A549	lung:	n/a
25	chr15:27112197-27112247	AG10803	skin:	n/a
26	chr15:27112197-27112247	HepG2	liver:	n/a
27	chr15:27112197-27112247	HEEpiC	esophagus:	n/a
28	chr15:27112197-27112247	Hela-S3	cervix:	n/a
29	chr15:27112197-27112247	NH-A	brain:	n/a
30	chr15:27112197-27112247	MCF-7	breast:	n/a
31	chr15:27112197-27112247	ovcar-3	ovarian:	n/a
32	chr15:27112197-27112247	GM19239	blood:	n/a
33	chr15:27112197-27112247	AG04450	lung:	fetal
34	chr15:27112197-27112247	PrEC	prostate:	n/a
35	chr15:27112197-27112247	HRPEpiC	eye:	n/a
36	chr15:27112197-27112247	HEK293	kidney:	embryo
37	chr15:27112197-27112247	U87	brain:	n/a
38	chr15:27112197-27112247	SKMC	muscle:	n/a
39	chr15:27112197-27112247	HNPCEpiC	eye:	n/a
40	chr15:27112197-27112247	SK-N-SH	brain:	n/a
41	chr15:27112197-27112247	HRE	kidney:	n/a
42	chr15:27112197-27112247	GM12892	blood:	n/a
43	chr15:27112197-27112247	HMEC	breast:	n/a
44	chr15:27112197-27112247	AG09309	skin:	n/a
45	chr15:27112197-27112247	HL-60	blood:	n/a
46	chr15:27112197-27112247	NB4	blood:	n/a
47	chr15:27112197-27112247	K562	blood:	n/a
48	chr15:27112197-27112247	SAEC	small airway:	n/a
49	chr15:27112197-27112247	HAEpiC	amniotic membrane:	n/a
50	chr15:27112197-27112247	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:27110118..27111814-chr15:27112231..27114077,2	K562	blood:

No data

Variant related genes	Relation type
GABRA5	TF binding region
GABRA5	CpG island
ENSG00000186297	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530664	chr15:26821078-27296222	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1041629	chr15:26919868-27192078	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1791731	chr15:27059973-27113311	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1823300	chr15:27068434-27116718	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv530815	chr15:27102003-27866013	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3442555	chr15:27111284-27113832	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv15283	chr15:27112235-27113345	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:27111200-27114000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:27111400-27113600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:27111400-27113600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:27111600-27112800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:27111600-27113200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:27111600-27113200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:27111800-27112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:27111800-27112400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr15:27111800-27112400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
10	chr15:27111800-27112400	Bivalent Enhancer	Esophagus	oesophagus
11	chr15:27111800-27112400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr15:27111800-27112600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr15:27111800-27113000	Bivalent Enhancer	Fetal Lung	lung
14	chr15:27111800-27113400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:27111800-27113600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:27111800-27113600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr15:27111800-27113600	Active TSS	NH-A	brain
18	chr15:27111800-27114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:27111800-27114000	Bivalent Enhancer	Fetal Brain Male	brain
20	chr15:27111800-27114000	Active TSS	A549	lung
21	chr15:27112000-27112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:27112000-27112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:27112000-27112400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
24	chr15:27112000-27112400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr15:27112000-27112600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:27112000-27112600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:27112000-27112800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:27112000-27112800	Enhancers	Gastric	stomach
29	chr15:27112000-27112800	Bivalent Enhancer	Spleen	Spleen
30	chr15:27112000-27113000	Enhancers	Pancreas	Pancrea
31	chr15:27112000-27113000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
32	chr15:27112000-27113200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr15:27112000-27113400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:27112000-27113600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr15:27112000-27113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:27112000-27114000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr15:27112000-27114000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
40	chr15:27112000-27114000	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr15:27112200-27112400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:27112200-27112400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:27112200-27112400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:27112200-27112400	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr15:27112200-27112400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr15:27112200-27112600	Active TSS	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links