Variant report

Variant	rs2203821
Chromosome Location	chr15:76629168-76629169
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	EP300	chr15:76628682-76629297	H1-hESC	embryonic stem cell:	n/a	chr15:76629043-76629059
6	MAX	chr15:76628380-76629274	A549	lung:	n/a	chr15:76628939-76628949
7	TAF1	chr15:76628671-76629270	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:76628183-76629388	U87	brain:	n/a	n/a
9	MAX	chr15:76628190-76629450	SK-N-SH	brain:	n/a	chr15:76628207-76628217 chr15:76628939-76628949
10	CHD2	chr15:76628885-76629308	K562	blood:	n/a	chr15:76628990-76629000
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	RCOR1	chr15:76628238-76629825	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr15:76628947-76629285	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:76627989-76629358	HCT-116	colon:	n/a	n/a
16	CREB1	chr15:76628602-76629255	A549	lung:	n/a	chr15:76629074-76629087
17	POLR2A	chr15:76628613-76629332	HepG2	liver:	n/a	n/a
18	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
19	RFX5	chr15:76629073-76629383	K562	blood:	n/a	n/a
20	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
21	JUND	chr15:76628479-76629480	Hela-S3	cervix:	n/a	chr15:76628895-76628904
22	JUND	chr15:76628700-76629273	H1-hESC	embryonic stem cell:	n/a	chr15:76628895-76628904
23	TAF1	chr15:76628552-76629394	K562	blood:	n/a	n/a
24	FOSL2	chr15:76628704-76629245	MCF-7	breast:	n/a	chr15:76628895-76628904
25	MYC	chr15:76628173-76631136	K562	blood:	n/a	chr15:76628207-76628217 chr15:76630256-76630266 chr15:76628939-76628949
26	MAX	chr15:76628196-76629307	K562	blood:	n/a	chr15:76628207-76628217 chr15:76628939-76628949
27	RAD21	chr15:76628614-76629336	SK-N-SH_RA	brain:	n/a	chr15:76629043-76629053
28	HEY1	chr15:76628150-76629369	K562	blood:	n/a	chr15:76629077-76629086
29	POLR2A	chr15:76628957-76633759	H1-neurons	neurons:	n/a	n/a
30	MYBL2	chr15:76628290-76629605	HepG2	liver:	n/a	n/a
31	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
32	CEBPB	chr15:76628612-76629678	IMR90	lung:	n/a	n/a
33	CTCF	chr15:76629040-76629190	SK-N-SH_RA	brain:	n/a	chr15:76629043-76629056
34	MAX	chr15:76628522-76629355	SK-N-SH	brain:	n/a	chr15:76628939-76628949
35	JUND	chr15:76628524-76629340	A549	lung:	n/a	chr15:76628895-76628904
36	CREB1	chr15:76628639-76629403	ECC-1	luminal epithelium:	n/a	chr15:76629074-76629087
37	POLR2A	chr15:76628444-76629271	MCF-7	breast:	n/a	n/a
38	ATF2	chr15:76628636-76629414	H1-hESC	embryonic stem cell:	n/a	chr15:76629073-76629087
39	CUX1	chr15:76629003-76629572	K562	blood:	n/a	n/a
40	UBTF	chr15:76628434-76629312	K562	blood:	n/a	n/a
41	YY1	chr15:76628658-76629241	HepG2	liver:	n/a	chr15:76628775-76628789
42	POLR2A	chr15:76628192-76629217	GM12892	blood:	n/a	n/a
43	PML	chr15:76628363-76629423	K562	blood:	n/a	n/a
44	EGR1	chr15:76628883-76629243	H1-hESC	embryonic stem cell:	n/a	chr15:76628988-76629002 chr15:76628912-76628921 chr15:76629042-76629055 chr15:76628986-76629008 chr15:76628992-76629002 chr15:76628992-76629003 chr15:76628991-76629004 chr15:76628991-76629004
45	ZMIZ1	chr15:76628007-76629306	K562	blood:	n/a	n/a
46	CTCF	chr15:76629063-76629188	GM19240	blood:	n/a	n/a
47	POLR2A	chr15:76628149-76629340	HCT-116	colon:	n/a	n/a
48	POLR2A	chr15:76628655-76629231	A549	lung:	n/a	n/a
49	EP300	chr15:76628499-76629390	ECC-1	luminal epithelium:	n/a	chr15:76629043-76629059
50	POLR2A	chr15:76627986-76629830	IMR90	lung:	n/a	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	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
5	chr15:76602419..76607116-chr15:76626572..76631104,6	MCF-7	breast:
6	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
7	chr15:76627980..76632315-chr15:76633215..76636196,5	MCF-7	breast:
8	chr15:76482689..76486583-chr15:76628039..76631365,3	K562	blood:
9	chr15:76583048..76585196-chr15:76627041..76629277,2	MCF-7	breast:

Variant related genes	Relation type
ISL2	TF binding region
ENSG00000169758	Chromatin interaction
ENSG00000259514	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000270036	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56310818	1.00[AMR][1000 genomes]
rs74024136	1.00[AMR][1000 genomes]
rs74026429	1.00[AFR][1000 genomes]
rs74026433	1.00[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76627400-76629400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr15:76627400-76629400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr15:76627400-76629600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:76627600-76629200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:76627600-76629200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
7	chr15:76627600-76629400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
8	chr15:76627600-76629600	Enhancers	Pancreas	Pancrea
9	chr15:76627600-76629600	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr15:76627600-76629600	Enhancers	Spleen	Spleen
11	chr15:76627600-76629800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:76627600-76630200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:76627600-76630400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
14	chr15:76627600-76630600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr15:76627600-76631000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:76627600-76631000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr15:76627600-76631200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:76627600-76632400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr15:76627600-76634400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr15:76627800-76629400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr15:76627800-76629400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:76627800-76629400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
23	chr15:76627800-76629400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
24	chr15:76627800-76629800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:76627800-76629800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
26	chr15:76627800-76630200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr15:76628000-76629400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
28	chr15:76628000-76629400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
29	chr15:76628000-76629400	Bivalent/Poised TSS	NHLF	lung
30	chr15:76628000-76629600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr15:76628000-76629600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:76628000-76630600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:76628000-76631800	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr15:76628000-76632000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr15:76628200-76629200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr15:76628200-76629400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:76628200-76629400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:76628200-76629600	Bivalent/Poised TSS	Thymus	Thymus
39	chr15:76628200-76629800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr15:76628200-76630200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:76628200-76630600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr15:76628200-76630800	Bivalent Enhancer	Liver	Liver
43	chr15:76628200-76631200	Active TSS	HSMM	muscle
44	chr15:76628400-76629200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr15:76628400-76629200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
46	chr15:76628400-76629200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:76628400-76629200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr15:76628400-76629200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
49	chr15:76628400-76629200	Active TSS	GM12878-XiMat	blood
50	chr15:76628400-76629400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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