Variant report

Variant	rs74023919
Chromosome Location	chr15:75339606-75339607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:75339406-75340324	GM12878	blood:	n/a	n/a
2	HEY1	chr15:75339288-75339910	HepG2	liver:	n/a	n/a
3	MAX	chr15:75339384-75339856	NB4	blood:	n/a	chr15:75339681-75339690
4	NFYB	chr15:75339422-75339812	GM12878	blood:	n/a	n/a
5	BHLHE40	chr15:75339151-75340243	K562	blood:	n/a	n/a
6	SPI1	chr15:75339395-75340178	GM12878	blood:	n/a	chr15:75339602-75339609 chr15:75339599-75339612 chr15:75339601-75339610
7	MAFK	chr15:75339364-75339768	IMR90	lung:	n/a	n/a
8	PML	chr15:75338604-75340440	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:75334181-75340414	GM12878	blood:	n/a	n/a
10	CHD1	chr15:75339358-75340297	GM12878	blood:	n/a	n/a
11	NFIC	chr15:75339240-75339799	SK-N-SH	brain:	n/a	chr15:75339588-75339604
12	MAX	chr15:75339523-75339746	HepG2	liver:	n/a	chr15:75339681-75339690
13	TBL1XR1	chr15:75339181-75339892	GM12878	blood:	n/a	n/a
14	NFIC	chr15:75339211-75339972	GM12878	blood:	n/a	chr15:75339588-75339604
15	JUND	chr15:75339558-75339837	HepG2	liver:	n/a	n/a
16	USF2	chr15:75339261-75339806	HepG2	liver:	n/a	n/a
17	CEBPB	chr15:75339495-75339871	IMR90	lung:	n/a	n/a
18	POLR2A	chr15:75339540-75340083	K562	blood:	n/a	n/a
19	CEBPB	chr15:75339456-75339874	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:75339408-75339868	HCT-116	colon:	n/a	n/a
21	USF1	chr15:75339360-75339835	K562	blood:	n/a	n/a
22	IRF4	chr15:75339135-75340065	GM12878	blood:	n/a	n/a
23	CREB1	chr15:75339371-75339711	A549	lung:	n/a	n/a
24	POLR2A	chr15:75338955-75339951	GM12892	blood:	n/a	n/a
25	HCFC1	chr15:75339518-75339811	K562	blood:	n/a	n/a
26	RELA	chr15:75339260-75340400	GM18951	blood:	n/a	n/a
27	TAF1	chr15:75339241-75340094	GM12878	blood:	n/a	n/a
28	ZEB1	chr15:75339316-75339795	GM12878	blood:	n/a	n/a
29	USF2	chr15:75339470-75339778	Hela-S3	cervix:	n/a	n/a
30	HDAC2	chr15:75339408-75339913	HepG2	liver:	n/a	chr15:75339740-75339759
31	EP300	chr15:75339314-75339889	GM12878	blood:	n/a	chr15:75339678-75339692 chr15:75339601-75339610 chr15:75339600-75339614
32	BCL11A	chr15:75339219-75339943	GM12878	blood:	n/a	n/a
33	MAX	chr15:75339410-75339795	SK-N-SH	brain:	n/a	chr15:75339681-75339690
34	FOXP2	chr15:75339463-75340091	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr15:75333297-75341736	GM12878	blood:	n/a	n/a
36	UBTF	chr15:75339295-75339873	K562	blood:	n/a	n/a
37	TBP	chr15:75339569-75339862	K562	blood:	n/a	n/a
38	ZNF384	chr15:75339597-75339762	K562	blood:	n/a	n/a
39	NR3C1	chr15:75339553-75339802	A549	lung:	n/a	chr15:75339727-75339740
40	MAX	chr15:75339264-75339873	ECC-1	luminal epithelium:	n/a	chr15:75339681-75339690
41	USF1	chr15:75339185-75339847	ECC-1	luminal epithelium:	n/a	n/a
42	NFIC	chr15:75339234-75339993	ECC-1	luminal epithelium:	n/a	chr15:75339588-75339604
43	MAFF	chr15:75339456-75339796	HepG2	liver:	n/a	n/a
44	POLR2A	chr15:75339244-75339898	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr15:75339358-75339912	HepG2	liver:	n/a	n/a
46	HEY1	chr15:75339543-75339833	K562	blood:	n/a	n/a
47	TEAD4	chr15:75339231-75339924	K562	blood:	n/a	n/a
48	POU2F2	chr15:75339056-75339845	GM12878	blood:	n/a	n/a
49	CEBPB	chr15:75339445-75339811	K562	blood:	n/a	n/a
50	PAX5	chr15:75339015-75340118	GM12878	blood:	n/a	chr15:75339602-75339611

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
2	chr15:75338159..75340815-chr15:75340871..75343132,3	MCF-7	breast:
3	chr15:75334694..75336730-chr15:75338711..75340960,2	MCF-7	breast:
4	chr15:75339319..75341137-chr15:75356875..75359232,2	K562	blood:
5	chr15:75328843..75331250-chr15:75338652..75340222,2	MCF-7	breast:
6	chr15:75337715..75339943-chr15:75401939..75403865,2	MCF-7	breast:
7	chr15:75337101..75339665-chr15:75342536..75344490,2	MCF-7	breast:
8	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
9	chr15:75338739..75341398-chr15:75344086..75345973,2	MCF-7	breast:
10	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
11	chr15:75327523..75330367-chr15:75338576..75340222,2	MCF-7	breast:
12	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:
13	chr15:75338171..75339673-chr15:75659821..75661787,2	K562	blood:

No data

Variant related genes	Relation type
PPCDC	TF binding region
ENSG00000167173	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000140400	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57565416	1.00[AMR][1000 genomes]
rs57985760	1.00[AMR][1000 genomes]
rs58235768	1.00[AMR][1000 genomes]
rs58858999	1.00[AMR][1000 genomes]
rs73436564	1.00[AMR][1000 genomes]
rs74023907	1.00[AMR][1000 genomes]
rs74023911	1.00[AMR][1000 genomes]
rs74023929	1.00[AMR][1000 genomes]
rs74023937	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023957	1.00[AMR][1000 genomes]
rs74023962	1.00[AMR][1000 genomes]
rs74025864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75318000-75341400	Weak transcription	Brain Germinal Matrix	brain
2	chr15:75328800-75350400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:75329200-75350400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:75329400-75346800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:75330600-75340000	Weak transcription	NHEK	skin
6	chr15:75333600-75341000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:75334000-75344600	Enhancers	Placenta	Placenta
8	chr15:75334200-75340400	Genic enhancers	Fetal Intestine Small	intestine
9	chr15:75334200-75340600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:75334200-75344600	Enhancers	Right Ventricle	heart
11	chr15:75334400-75343200	Enhancers	Fetal Heart	heart
12	chr15:75334600-75340400	Enhancers	Liver	Liver
13	chr15:75334600-75340800	Enhancers	Fetal Muscle Leg	muscle
14	chr15:75334600-75341000	Enhancers	Lung	lung
15	chr15:75334600-75343200	Enhancers	Right Atrium	heart
16	chr15:75334800-75344600	Enhancers	Left Ventricle	heart
17	chr15:75335000-75340200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr15:75335000-75340400	Enhancers	Fetal Thymus	thymus
19	chr15:75335200-75340200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:75335200-75344200	Enhancers	Fetal Lung	lung
21	chr15:75335600-75340400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr15:75335800-75340600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr15:75336000-75340200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:75336000-75350400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:75336400-75340600	Enhancers	Primary hematopoietic stem cells	blood
26	chr15:75336600-75340200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:75336600-75340600	Enhancers	Small Intestine	intestine
28	chr15:75336600-75343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:75336800-75340400	Enhancers	Brain Substantia Nigra	brain
30	chr15:75336800-75340600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:75336800-75341200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr15:75336800-75342400	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:75336800-75342600	Strong transcription	Primary T cells from cord blood	blood
34	chr15:75337200-75339800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr15:75337200-75353600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:75337400-75340800	Enhancers	Spleen	Spleen
37	chr15:75337600-75339800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:75337600-75340600	Weak transcription	Dnd41	blood
39	chr15:75337600-75341000	Weak transcription	Fetal Brain Female	brain
40	chr15:75337800-75339800	Enhancers	Fetal Stomach	stomach
41	chr15:75337800-75340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:75337800-75340000	Enhancers	Gastric	stomach
43	chr15:75337800-75340600	Enhancers	Primary B cells from peripheral blood	blood
44	chr15:75337800-75341000	Enhancers	Fetal Muscle Trunk	muscle
45	chr15:75338000-75340400	Enhancers	Fetal Intestine Large	intestine
46	chr15:75338000-75341800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr15:75338400-75340800	Enhancers	Stomach Mucosa	stomach
48	chr15:75338400-75342000	Genic enhancers	Esophagus	oesophagus
49	chr15:75338400-75342800	Enhancers	Brain Hippocampus Middle	brain
50	chr15:75338600-75340000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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