Variant report

Variant	rs73448114
Chromosome Location	chr15:76628736-76628737
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	FOXP2	chr15:76628684-76629219	PFSK-1	brain:	n/a	n/a
2	CEBPB	chr15:76628387-76629228	HepG2	liver:	n/a	n/a
3	CEBPD	chr15:76628545-76629260	HepG2	liver:	n/a	n/a
4	TEAD4	chr15:76628644-76629265	ECC-1	luminal epithelium:	n/a	n/a
5	HNF4A	chr15:76628619-76628940	HepG2	liver:	n/a	chr15:76628745-76628753
6	EP300	chr15:76628682-76629297	H1-hESC	embryonic stem cell:	n/a	chr15:76629043-76629059
7	MAX	chr15:76628380-76629274	A549	lung:	n/a	chr15:76628939-76628949
8	TAF1	chr15:76628671-76629270	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:76628183-76629388	U87	brain:	n/a	n/a
10	MAX	chr15:76628190-76629450	SK-N-SH	brain:	n/a	chr15:76628207-76628217 chr15:76628939-76628949
11	BCL3	chr15:76628292-76629316	A549	lung:	n/a	n/a
12	CEBPB	chr15:76628592-76629369	ECC-1	luminal epithelium:	n/a	n/a
13	YY1	chr15:76628656-76629032	GM12892	blood:	n/a	chr15:76628775-76628789
14	RCOR1	chr15:76628238-76629825	Hela-S3	cervix:	n/a	n/a
15	EP300	chr15:76628565-76628970	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr15:76628655-76628923	A549	lung:	n/a	n/a
17	POLR2A	chr15:76627989-76629358	HCT-116	colon:	n/a	n/a
18	CREB1	chr15:76628602-76629255	A549	lung:	n/a	chr15:76629074-76629087
19	RUNX3	chr15:76628641-76628883	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:76628613-76629332	HepG2	liver:	n/a	n/a
21	ATF3	chr15:76628409-76629269	K562	blood:	n/a	chr15:76628795-76628806 chr15:76628793-76628806 chr15:76628791-76628805 chr15:76628794-76628804 chr15:76629077-76629084 chr15:76629077-76629085 chr15:76629028-76629048 chr15:76629073-76629084 chr15:76629073-76629088 chr15:76628795-76628806
22	YY1	chr15:76628674-76628931	GM12891	blood:	n/a	chr15:76628775-76628789
23	SP1	chr15:76628669-76629293	H1-hESC	embryonic stem cell:	n/a	chr15:76628961-76628971 chr15:76629040-76629049 chr15:76628960-76628971 chr15:76628960-76628972 chr15:76629039-76629051 chr15:76629040-76629054 chr15:76629041-76629050 chr15:76629039-76629051 chr15:76628940-76628954 chr15:76628961-76628970 chr15:76628961-76628970 chr15:76628962-76628971 chr15:76628960-76628972
24	POLR2A	chr15:76627501-76628913	H1-neurons	neurons:	n/a	n/a
25	YY1	chr15:76628701-76629109	HCT-116	colon:	n/a	chr15:76628775-76628789
26	JUND	chr15:76628479-76629480	Hela-S3	cervix:	n/a	chr15:76628895-76628904
27	JUND	chr15:76628700-76629273	H1-hESC	embryonic stem cell:	n/a	chr15:76628895-76628904
28	TAF1	chr15:76628552-76629394	K562	blood:	n/a	n/a
29	FOSL2	chr15:76628704-76629245	MCF-7	breast:	n/a	chr15:76628895-76628904
30	SIN3AK20	chr15:76628668-76628897	HepG2	liver:	n/a	n/a
31	MYC	chr15:76628173-76631136	K562	blood:	n/a	chr15:76628207-76628217 chr15:76630256-76630266 chr15:76628939-76628949
32	MAX	chr15:76628196-76629307	K562	blood:	n/a	chr15:76628207-76628217 chr15:76628939-76628949
33	RAD21	chr15:76628614-76629336	SK-N-SH_RA	brain:	n/a	chr15:76629043-76629053
34	SPI1	chr15:76627860-76629142	GM12878	blood:	n/a	chr15:76628752-76628761 chr15:76628753-76628760
35	HEY1	chr15:76628150-76629369	K562	blood:	n/a	chr15:76629077-76629086
36	MYBL2	chr15:76628290-76629605	HepG2	liver:	n/a	n/a
37	HNF4G	chr15:76628654-76629106	HepG2	liver:	n/a	chr15:76628745-76628753
38	SP1	chr15:76628104-76629381	A549	lung:	n/a	chr15:76628961-76628971 chr15:76629040-76629049 chr15:76628960-76628971 chr15:76628960-76628972 chr15:76628209-76628218 chr15:76629039-76629051 chr15:76629040-76629054 chr15:76629041-76629050 chr15:76629039-76629051 chr15:76628940-76628954 chr15:76629304-76629314 chr15:76628210-76628219 chr15:76628205-76628219 chr15:76628961-76628970 chr15:76628208-76628220 chr15:76628961-76628970 chr15:76628962-76628971 chr15:76628210-76628219 chr15:76628960-76628972
39	CEBPB	chr15:76628612-76629678	IMR90	lung:	n/a	n/a
40	REST	chr15:76628605-76628863	K562	blood:	n/a	n/a
41	MAX	chr15:76628522-76629355	SK-N-SH	brain:	n/a	chr15:76628939-76628949
42	JUND	chr15:76628524-76629340	A549	lung:	n/a	chr15:76628895-76628904
43	CREB1	chr15:76628639-76629403	ECC-1	luminal epithelium:	n/a	chr15:76629074-76629087
44	POLR2A	chr15:76628444-76629271	MCF-7	breast:	n/a	n/a
45	ATF2	chr15:76628636-76629414	H1-hESC	embryonic stem cell:	n/a	chr15:76629073-76629087
46	POLR2A	chr15:76628230-76629149	H1-hESC	embryonic stem cell:	n/a	n/a
47	UBTF	chr15:76628434-76629312	K562	blood:	n/a	n/a
48	YY1	chr15:76628658-76629241	HepG2	liver:	n/a	chr15:76628775-76628789
49	POLR2A	chr15:76628192-76629217	GM12892	blood:	n/a	n/a
50	PML	chr15:76628363-76629423	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76628725-76628775	HRPEpiC	eye:	n/a
2	chr15:76628725-76628775	AG09309	skin:	n/a
3	chr15:76628725-76628775	HRCEpiC	kidney:	n/a
4	chr15:76628725-76628775	LNCaP	prostate:	n/a
5	chr15:76628725-76628775	T-47D	breast:	n/a
6	chr15:76628725-76628775	MCF10A-Er-Src	breast:	n/a
7	chr15:76628725-76628775	HCPEpiC	choroid plexus:	n/a
8	chr15:76628725-76628775	ProgFib	skin:	n/a
9	chr15:76628725-76628775	HEK293	kidney:	embryo
10	chr15:76628725-76628775	HRE	kidney:	n/a
11	chr15:76628725-76628775	HMEC	breast:	n/a
12	chr15:76628725-76628775	HepG2	liver:	n/a
13	chr15:76628725-76628775	HUVEC	blood vessel:	n/a
14	chr15:76628725-76628775	IMR90	lung:	fetal
15	chr15:76628725-76628775	HCT-116	colon:	n/a
16	chr15:76628725-76628775	Hepatocyte	liver:	n/a
17	chr15:76628725-76628775	A549	lung:	n/a
18	chr15:76628725-76628775	U87	brain:	n/a
19	chr15:76628725-76628775	Caco-2	colon:	n/a
20	chr15:76628725-76628775	SK-N-SH	brain:	n/a
21	chr15:76628725-76628775	HAEpiC	amniotic membrane:	n/a
22	chr15:76628725-76628775	K562	blood:	n/a
23	chr15:76628725-76628775	AoSMC	blood vessel:	n/a
24	chr15:76628725-76628775	NH-A	brain:	n/a
25	chr15:76628725-76628775	AG04450	lung:	fetal
26	chr15:76628725-76628775	HNPCEpiC	eye:	n/a
27	chr15:76628725-76628775	NT2-D1	testis:	n/a
28	chr15:76628725-76628775	Hela-S3	cervix:	n/a
29	chr15:76628725-76628775	HEEpiC	esophagus:	n/a
30	chr15:76628725-76628775	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:76628725-76628775	Jurkat	blood:	n/a
32	chr15:76628725-76628775	GM12892	blood:	n/a
33	chr15:76628725-76628775	AG10803	skin:	n/a
34	chr15:76628725-76628775	SAEC	small airway:	n/a
35	chr15:76628725-76628775	GM12891	blood:	n/a
36	chr15:76628725-76628775	GM19239	blood:	n/a
37	chr15:76628725-76628775	PrEC	prostate:	n/a
38	chr15:76628725-76628775	H1-hESC	embryonic stem cell:	embryo
39	chr15:76628725-76628775	SK-N-MC	brain:	n/a
40	chr15:76628725-76628775	AG04449	skin:	fetal
41	chr15:76628725-76628775	PANC-1	pancreas:	n/a
42	chr15:76628725-76628775	HCM	heart:	n/a
43	chr15:76628725-76628775	HL-60	blood:	n/a
44	chr15:76628725-76628775	BE2_C	brain:	n/a
45	chr15:76628725-76628775	PFSK-1	brain:	n/a
46	chr15:76628725-76628775	BJ	skin:	n/a
47	chr15:76628725-76628775	AG09319	gingival:	n/a
48	chr15:76628725-76628775	SKMC	muscle:	n/a
49	chr15:76628725-76628775	ovcar-3	ovarian:	n/a
50	chr15:76628725-76628775	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76628537..76629208-chr3:43731945..43732563,2	NB4	blood:
2	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:
3	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
4	chr15:76537469..76539301-chr15:76627220..76628943,2	MCF-7	breast:
5	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
6	chr15:76602419..76607116-chr15:76626572..76631104,6	MCF-7	breast:
7	chr15:76628338..76628972-chr16:3333283..3333855,2	Hela-S3	cervix:
8	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
9	chr15:76627980..76632315-chr15:76633215..76636196,5	MCF-7	breast:
10	chr15:76628182..76629017-chr6:109415644..109416177,2	Hela-S3	cervix:
11	chr15:76482689..76486583-chr15:76628039..76631365,3	K562	blood:
12	chr15:76583048..76585196-chr15:76627041..76629277,2	MCF-7	breast:
13	chr15:76628312..76628814-chr22:43010507..43011050,2	HCT-116	colon:
14	chr1:173446351..173447261-chr15:76628469..76629107,2	Hela-S3	cervix:

Variant related genes	Relation type
ISL2	TF binding region
ISL2	CpG island
ENSG00000270036	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000006194	Chromatin interaction
ENSG00000080546	Chromatin interaction
ENSG00000011198	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000169758	Chromatin interaction
ENSG00000259514	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11856244	1.00[AMR][1000 genomes]
rs16968120	0.81[ASN][1000 genomes]
rs55831300	0.86[AMR][1000 genomes]
rs55923544	0.89[AMR][1000 genomes]
rs56220133	0.86[AMR][1000 genomes]
rs56233972	0.86[AMR][1000 genomes]
rs56313024	0.82[AMR][1000 genomes]
rs62027059	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62028361	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030162	1.00[AMR][1000 genomes]
rs62030163	1.00[AMR][1000 genomes]
rs62030169	1.00[AMR][1000 genomes]
rs62030170	1.00[AMR][1000 genomes]
rs62030172	0.86[AMR][1000 genomes]
rs62030183	0.86[AMR][1000 genomes]
rs62030184	0.86[AMR][1000 genomes]
rs62030186	0.86[AMR][1000 genomes]
rs62030187	0.86[AMR][1000 genomes]
rs62030191	0.86[AMR][1000 genomes]
rs62030230	0.86[AMR][1000 genomes]
rs62030234	0.86[AMR][1000 genomes]
rs62030240	0.86[AMR][1000 genomes]
rs6495195	0.82[AMR][1000 genomes]
rs7175022	0.86[AMR][1000 genomes]
rs72736846	0.86[AMR][1000 genomes]
rs72736862	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904399	chr15:76622903-76646575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv827391	chr15:76626571-76636327	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76627000-76629000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr15:76627400-76629000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr15:76627400-76629000	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr15:76627400-76629400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:76627400-76629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr15:76627400-76629600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:76627600-76628800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:76627600-76628800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
10	chr15:76627600-76628800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:76627600-76628800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:76627600-76628800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr15:76627600-76628800	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr15:76627600-76629000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr15:76627600-76629200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr15:76627600-76629200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr15:76627600-76629400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr15:76627600-76629600	Enhancers	Pancreas	Pancrea
19	chr15:76627600-76629600	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr15:76627600-76629600	Enhancers	Spleen	Spleen
21	chr15:76627600-76629800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:76627600-76630200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:76627600-76630400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr15:76627600-76630600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr15:76627600-76631000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr15:76627600-76631000	Bivalent Enhancer	Fetal Brain Male	brain
27	chr15:76627600-76631200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:76627600-76632400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr15:76627600-76634400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr15:76627800-76628800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:76627800-76629000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:76627800-76629400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr15:76627800-76629400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:76627800-76629400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr15:76627800-76629400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
36	chr15:76627800-76629800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:76627800-76629800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
38	chr15:76627800-76630200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr15:76628000-76628800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr15:76628000-76629000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:76628000-76629400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
42	chr15:76628000-76629400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr15:76628000-76629400	Bivalent/Poised TSS	NHLF	lung
44	chr15:76628000-76629600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr15:76628000-76629600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr15:76628000-76630600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:76628000-76631800	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr15:76628000-76632000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr15:76628200-76629200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr15:76628200-76629400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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