Variant report

Variant	rs72930245
Chromosome Location	chr3:69250340-69250341
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	SP1	chr3:69249550-69250349	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:69248478-69250687	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr3:69249546-69250365	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:69249712-69250420	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr3:69249390-69250373	A549	lung:	n/a	n/a
6	POLR2A	chr3:69248412-69250355	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr3:69249510-69250410	HEK293	kidney:	n/a	n/a
8	POLR2A	chr3:69249437-69250353	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:69249438-69250379	HepG2	liver:	n/a	n/a
10	EP300	chr3:69249709-69250353	ECC-1	luminal epithelium:	n/a	n/a
11	TBP	chr3:69249254-69250531	Hela-S3	cervix:	n/a	n/a
12	FOXA2	chr3:69249815-69250347	A549	lung:	n/a	n/a
13	POLR2A	chr3:69248677-69250458	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr3:69249668-69250367	MCF-7	breast:	n/a	chr3:69250088-69250109
15	BRCA1	chr3:69249476-69250501	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr3:69249607-69250392	MCF-7	breast:	n/a	n/a
17	REST	chr3:69249826-69250353	A549	lung:	n/a	n/a
18	TBP	chr3:69249464-69250352	HepG2	liver:	n/a	n/a
19	TAF1	chr3:69249975-69250356	A549	lung:	n/a	n/a
20	FOXM1	chr3:69249533-69250359	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr3:69249473-69250350	PFSK-1	brain:	n/a	n/a
22	MYBL2	chr3:69249435-69250393	HepG2	liver:	n/a	n/a
23	TCF12	chr3:69249678-69250375	ECC-1	luminal epithelium:	n/a	n/a
24	STAT3	chr3:69249551-69250356	Hela-S3	cervix:	n/a	chr3:69249823-69249831 chr3:69249821-69249832 chr3:69250260-69250268
25	SIN3AK20	chr3:69249479-69250396	MCF-7	breast:	n/a	n/a
26	MAX	chr3:69249556-69250417	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FRMD4B	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4513455	0.92[ASN][1000 genomes]
rs58150045	1.00[AFR][1000 genomes]
rs59324628	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6777899	0.92[ASN][1000 genomes]
rs72930244	0.85[AFR][1000 genomes]
rs72930257	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72932116	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72932125	0.93[AFR][1000 genomes]
rs9820998	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398378	chr3:69240573-69271936	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69232000-69275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69242400-69281600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:69242600-69268800	Weak transcription	Spleen	Spleen
4	chr3:69244000-69264800	Weak transcription	Fetal Brain Female	brain
5	chr3:69244200-69261800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:69246200-69266800	Weak transcription	HSMM	muscle
7	chr3:69247000-69254000	Weak transcription	Fetal Brain Male	brain
8	chr3:69247200-69253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:69248200-69257000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:69248400-69250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:69248400-69250400	Active TSS	Right Atrium	heart
12	chr3:69248400-69250400	Flanking Active TSS	HUVEC	blood vessel
13	chr3:69248600-69250400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:69249000-69250400	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:69249000-69250400	Enhancers	Fetal Muscle Leg	muscle
16	chr3:69249000-69250400	Enhancers	HMEC	breast
17	chr3:69249000-69255400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:69249000-69263000	Weak transcription	Lung	lung
19	chr3:69249200-69250400	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr3:69249200-69250400	Flanking Active TSS	NHEK	skin
21	chr3:69249200-69252600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:69249400-69250400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr3:69249400-69251200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:69249400-69252600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:69249400-69252600	Weak transcription	Gastric	stomach
26	chr3:69249400-69257600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:69249600-69250400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:69249600-69250400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:69249600-69250400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:69249600-69250400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:69249600-69250400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:69249600-69250400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:69249600-69250400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:69249600-69250400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:69249600-69250400	Enhancers	Brain Angular Gyrus	brain
36	chr3:69249600-69250400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr3:69249600-69250400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr3:69249600-69250400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr3:69249600-69250400	Enhancers	K562	blood
40	chr3:69249800-69250400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:69249800-69250400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:69249800-69250400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:69249800-69250400	Flanking Active TSS	Fetal Kidney	kidney
44	chr3:69249800-69250400	Enhancers	Small Intestine	intestine
45	chr3:69249800-69254600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:69249800-69254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:69250000-69250400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:69250000-69250400	Flanking Active TSS	Liver	Liver
49	chr3:69250000-69250400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr3:69250000-69250400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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