Variant report

Variant	rs73815375
Chromosome Location	chr4:48856398-48856399
allele	C/T
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	IRF1	chr4:48855758-48856799	K562	blood:	n/a	n/a
2	MAZ	chr4:48856023-48856458	K562	blood:	n/a	n/a
3	GATA1	chr4:48855818-48856585	PBDE	blood:	n/a	chr4:48856057-48856078 chr4:48856064-48856073 chr4:48856031-48856044 chr4:48855884-48855894 chr4:48856064-48856071 chr4:48856064-48856071 chr4:48856064-48856071
4	TEAD4	chr4:48855662-48856653	K562	blood:	n/a	n/a
5	EP300	chr4:48855882-48856601	K562	blood:	n/a	chr4:48855965-48855979
6	IRF1	chr4:48855789-48856708	K562	blood:	n/a	n/a
7	JUND	chr4:48855740-48856685	K562	blood:	n/a	n/a
8	ARID3A	chr4:48855685-48856516	K562	blood:	n/a	n/a
9	JUN	chr4:48856006-48856422	K562	blood:	n/a	n/a
10	TAL1	chr4:48855858-48856448	K562	blood:	n/a	n/a
11	RCOR1	chr4:48855816-48856763	K562	blood:	n/a	n/a
12	GATA1	chr4:48855945-48856405	PBDEFetal	blood:	n/a	chr4:48856057-48856078 chr4:48856064-48856073 chr4:48856031-48856044 chr4:48856064-48856071 chr4:48856064-48856071 chr4:48856064-48856071
13	PML	chr4:48855758-48856407	K562	blood:	n/a	n/a
14	POLR2A	chr4:48855358-48857339	K562	blood:	n/a	n/a
15	POLR2A	chr4:48855844-48856420	K562	blood:	n/a	n/a
16	PML	chr4:48855801-48856508	K562	blood:	n/a	n/a
17	GATA1	chr4:48855548-48856816	K562	blood:	n/a	chr4:48856057-48856078 chr4:48856064-48856073 chr4:48856031-48856044 chr4:48855884-48855894 chr4:48856064-48856071 chr4:48856064-48856071 chr4:48856064-48856071

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48781641..48784567-chr4:48855819..48858602,2	MCF-7	breast:
2	chr4:48854874..48857158-chr4:48907374..48909489,2	MCF-7	breast:

Variant related genes	Relation type
OCIAD1	TF binding region
ENSG00000075539	Chromatin interaction
ENSG00000145247	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60312545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6820617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73815341	0.82[AFR][1000 genomes]
rs73815372	0.86[AFR][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	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48834000-48859800	Weak transcription	Aorta	Aorta
2	chr4:48834000-48864600	Weak transcription	Stomach Mucosa	stomach
3	chr4:48834800-48856600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48835000-48858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:48835000-48859800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:48835000-48861400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:48835000-48862400	Strong transcription	Fetal Thymus	thymus
8	chr4:48835000-48863000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:48835000-48864400	Strong transcription	HSMM	muscle
10	chr4:48835200-48863200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:48835200-48863800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:48835200-48864200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:48835400-48857400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:48835400-48863200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:48835400-48863400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:48835600-48864000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:48835800-48857000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:48835800-48857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:48835800-48863200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:48836000-48858000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:48836000-48863600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:48836200-48863600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:48836400-48857200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr4:48836800-48863200	Strong transcription	Dnd41	blood
25	chr4:48837200-48861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:48838000-48859600	Weak transcription	Gastric	stomach
27	chr4:48838000-48859600	Weak transcription	Spleen	Spleen
28	chr4:48838000-48859800	Weak transcription	Pancreas	Pancrea
29	chr4:48838000-48859800	Weak transcription	Right Ventricle	heart
30	chr4:48838000-48864400	Weak transcription	Esophagus	oesophagus
31	chr4:48838200-48866800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:48838400-48863400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:48839400-48859600	Weak transcription	Colonic Mucosa	Colon
34	chr4:48840200-48860000	Weak transcription	Small Intestine	intestine
35	chr4:48841000-48865400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:48844000-48856600	Strong transcription	NHDF-Ad	bronchial
37	chr4:48844200-48857400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr4:48844800-48858000	Strong transcription	Liver	Liver
39	chr4:48845400-48863800	Weak transcription	Hela-S3	cervix
40	chr4:48848200-48864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:48848200-48864600	Weak transcription	Fetal Heart	heart
42	chr4:48848200-48880000	Weak transcription	Brain Substantia Nigra	brain
43	chr4:48849000-48857200	Strong transcription	Fetal Lung	lung
44	chr4:48849800-48858200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:48850800-48856800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:48850800-48857200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:48850800-48857800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:48851200-48860800	Strong transcription	Placenta	Placenta
49	chr4:48851800-48856800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr4:48852000-48856800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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