Variant report

Variant	rs8038497
Chromosome Location	chr15:83317081-83317082
allele	C/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	MAZ	chr15:83314805-83317083	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
2	CTCF	chr15:83317059-83317240	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr15:83315572-83317593	H1-hESC	embryonic stem cell:	n/a	chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83316377-83316384
4	BACH1	chr15:83316940-83317220	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr15:83315375-83317625	H1-hESC	embryonic stem cell:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
6	CTCF	chr15:83317060-83317210	BE2_C	brain:	n/a	n/a
7	USF2	chr15:83316968-83317466	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr15:83317080-83317230	HAc	cerebellar:	n/a	n/a
9	MYC	chr15:83316055-83317166	A549	lung:	n/a	chr15:83316463-83316472 chr15:83316449-83316458 chr15:83316462-83316473
10	MXI1	chr15:83315835-83317088	SK-N-SH	brain:	n/a	chr15:83316014-83316023
11	ELF1	chr15:83315485-83317091	K562	blood:	n/a	chr15:83316355-83316367
12	CHD2	chr15:83317043-83317317	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr15:83316976-83317320	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr15:83316110-83317150	A549	lung:	n/a	n/a
15	MYC	chr15:83317038-83317433	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr15:83317020-83317170	AG04450	lung:	n/a	n/a
17	GTF2F1	chr15:83316984-83317353	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr15:83314939-83317179	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
19	TEAD4	chr15:83316963-83317704	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr15:83316960-83317110	SK-N-SH_RA	brain:	n/a	n/a
21	MAZ	chr15:83315861-83317245	IMR90	lung:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
22	MAX	chr15:83316946-83317448	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr15:83316964-83317636	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:83317080-83317230	AG10803	skin:	n/a	n/a
25	TBP	chr15:83317043-83317562	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr15:83317080-83317230	AG09319	gingival:	n/a	n/a
27	MAX	chr15:83314958-83317626	H1-hESC	embryonic stem cell:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
28	CTCF	chr15:83317080-83317230	HBMEC	blood vessel:	n/a	n/a
29	SETDB1	chr15:83315209-83317168	K562	blood:	n/a	n/a
30	ZNF143	chr15:83316906-83317596	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr15:83317008-83317656	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr15:83317080-83317230	HRPEpiC	eye:	n/a	n/a
33	E2F6	chr15:83314918-83317699	H1-hESC	embryonic stem cell:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
34	CTCF	chr15:83316995-83317342	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr15:83316819-83317644	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr15:83314596-83317120	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
37	JUN	chr15:83315616-83317196	K562	blood:	n/a	chr15:83316417-83316426 chr15:83316398-83316406
38	ELF1	chr15:83316767-83317158	GM12878	blood:	n/a	n/a
39	JUND	chr15:83316835-83317512	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
2	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
3	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
4	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
5	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:
6	chr15:83316099..83317759-chr15:83406962..83409710,2	K562	blood:
7	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
8	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
9	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
10	chr15:83315603..83319675-chr15:83327659..83331605,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-379H8.1.1-1	chr15:83316521-83317559	ENSG00000244937
2	lnc-RP11-379H8.1.1-1	chr15:83316521-83317559	ENSG00000259462.1
3	lnc-AP3B2-2	chr15:83316971-83317129	NONHSAT047840

Variant related genes	Relation type
CPEB1	TF binding region
ENSG00000250988	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000156232	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12908713	0.83[AMR][1000 genomes]
rs7165129	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3434026	chr15:83314547-83318195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv33057	chr15:83314833-83317588	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3360562	chr15:83315522-83318070	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8038497	YES1	trans	lymphoblastoid	RTeQTL
rs8038497	RP11-152F13.7	cis	lung	GTEx
rs8038497	FLJ22795///LOC727751	N/A	lymphoblastoid	RTeQTL
rs8038497	CPEB1	cis	brain	BrainEAC
rs8038497	RPS17	Cis_1M	lymphoblastoid	RTeQTL
rs8038497	LOC402057///RPS17	trans	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:83315000-83317200	Active TSS	Brain Substantia Nigra	brain
6	chr15:83315000-83317200	Active TSS	Right Atrium	heart
7	chr15:83315000-83317200	Bivalent/Poised TSS	NHLF	lung
8	chr15:83315000-83317400	Active TSS	Brain Angular Gyrus	brain
9	chr15:83315000-83317400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr15:83315000-83317400	Bivalent Enhancer	Placenta	Placenta
11	chr15:83315000-83318200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr15:83315200-83317600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:83315400-83317200	Bivalent Enhancer	Liver	Liver
14	chr15:83315400-83317200	Bivalent/Poised TSS	NHEK	skin
15	chr15:83315400-83317400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:83315600-83317200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr15:83315600-83317400	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr15:83315600-83317600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:83315800-83317200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:83315800-83317200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:83315800-83317200	Bivalent Enhancer	Fetal Thymus	thymus
22	chr15:83315800-83317200	Active TSS	NHDF-Ad	bronchial
23	chr15:83315800-83317400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:83315800-83317400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr15:83315800-83317400	Flanking Active TSS	Right Ventricle	heart
26	chr15:83315800-83317400	Bivalent/Poised TSS	HSMMtube	muscle
27	chr15:83315800-83317600	Enhancers	Lung	lung
28	chr15:83316000-83317200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr15:83316000-83317200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:83316000-83317200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:83316000-83317200	Active TSS	Aorta	Aorta
32	chr15:83316000-83317200	Active TSS	Brain Anterior Caudate	brain
33	chr15:83316000-83317200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr15:83316000-83317200	Active TSS	Rectal Smooth Muscle	rectum
35	chr15:83316000-83317200	Active TSS	HSMM	muscle
36	chr15:83316000-83317400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:83316000-83317400	Bivalent/Poised TSS	Osteobl	bone
38	chr15:83316000-83317600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:83316000-83317600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr15:83316200-83317200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:83316200-83317200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:83316200-83317400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:83316200-83317400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr15:83316200-83317400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr15:83316200-83317600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:83316200-83317600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:83316400-83317200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr15:83316400-83317200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr15:83316400-83317200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr15:83316400-83317400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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