Variant report

Variant	rs546484976
Chromosome Location	chr15:27112729-27112730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:27111395-27113536	A549	lung:	n/a	n/a
2	MAX	chr15:27111843-27113545	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr15:27111373-27113610	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr15:27111344-27113069	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112389
5	POLR2A	chr15:27112352-27112813	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr15:27112720-27112870	WERI-Rb-1	eye:	n/a	chr15:27112787-27112800 chr15:27112789-27112799
7	E2F6	chr15:27111835-27113748	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112387 chr15:27113343-27113350 chr15:27112739-27112751 chr15:27113208-27113218 chr15:27113343-27113350 chr15:27113343-27113350
8	MAX	chr15:27111772-27113108	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr15:27112594-27113217	H1-hESC	embryonic stem cell:	n/a	chr15:27112739-27112751
10	POLR2A	chr15:27111802-27112944	A549	lung:	n/a	n/a

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

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:50 , 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
8	nsv568613	chr15:27112265-27112942	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv568614	chr15:27112265-27113049	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv568615	chr15:27112265-27113209	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS 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
11	nsv568616	chr15:27112265-27113260	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
12	esv1799562	chr15:27112265-27113311	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1800448	chr15:27112265-27113311	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1802256	chr15:27112265-27113311	Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv1810100	chr15:27112265-27113311	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS 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
16	esv1811997	chr15:27112265-27113311	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv1812455	chr15:27112265-27113311	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv1818247	chr15:27112265-27113311	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv1820529	chr15:27112265-27113311	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv1823962	chr15:27112265-27113311	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1826422	chr15:27112265-27113311	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv1827440	chr15:27112265-27113311	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1833631	chr15:27112265-27113311	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv1834748	chr15:27112265-27113311	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS 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
25	esv1836444	chr15:27112265-27113311	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv1840312	chr15:27112265-27113311	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv1843172	chr15:27112265-27113311	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv1844645	chr15:27112265-27113311	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	esv1845534	chr15:27112265-27113311	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	esv1846842	chr15:27112265-27113311	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv568617	chr15:27112265-27113311	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	esv1836031	chr15:27112265-27189168	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv568618	chr15:27112406-27112942	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
34	nsv568619	chr15:27112406-27112996	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
35	nsv568620	chr15:27112406-27113049	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	nsv568621	chr15:27112406-27113100	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv568622	chr15:27112406-27113209	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv568623	chr15:27112406-27113260	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv568624	chr15:27112406-27113311	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
40	nsv568625	chr15:27112459-27113311	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
41	nsv568626	chr15:27112510-27112996	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
42	nsv568627	chr15:27112510-27113049	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
43	nsv568628	chr15:27112510-27113311	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
44	nsv568629	chr15:27112573-27113049	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv568630	chr15:27112573-27113100	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv568631	chr15:27112573-27113209	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv568632	chr15:27112573-27113260	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	nsv568633	chr15:27112573-27113311	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	nsv568634	chr15:27112624-27113311	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	nsv568635	chr15:27112727-27113311	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 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	chr15:27111800-27113000	Bivalent Enhancer	Fetal Lung	lung
8	chr15:27111800-27113400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:27111800-27113600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:27111800-27113600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr15:27111800-27113600	Active TSS	NH-A	brain
12	chr15:27111800-27114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr15:27111800-27114000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr15:27111800-27114000	Active TSS	A549	lung
15	chr15:27112000-27112800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:27112000-27112800	Enhancers	Gastric	stomach
17	chr15:27112000-27112800	Bivalent Enhancer	Spleen	Spleen
18	chr15:27112000-27113000	Enhancers	Pancreas	Pancrea
19	chr15:27112000-27113000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr15:27112000-27113200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:27112000-27113400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:27112000-27113600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr15:27112000-27113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:27112000-27114000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:27112000-27114000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr15:27112000-27114000	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr15:27112200-27112800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr15:27112200-27113000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:27112200-27113000	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr15:27112200-27113400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:27112200-27113400	Active TSS	Right Atrium	heart
34	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
39	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
40	chr15:27112400-27112800	Active TSS	Rectal Smooth Muscle	rectum
41	chr15:27112400-27113000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr15:27112400-27113000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:27112400-27113000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:27112400-27113000	Bivalent/Poised TSS	Thymus	Thymus
45	chr15:27112400-27113200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:27112400-27113200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:27112400-27113200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:27112400-27113200	Active TSS	Brain Angular Gyrus	brain
49	chr15:27112400-27113200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr15:27112400-27113400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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