Variant report

Variant	rs72973027
Chromosome Location	chr3:137811101-137811102
allele	A/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	FOS	chr3:137810952-137811116	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFF	chr3:137811025-137811168	HepG2	liver:	n/a	chr3:137811028-137811046
3	FOXA2	chr3:137810918-137811171	A549	lung:	n/a	n/a

Variant related genes	Relation type
DZIP1L	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57127459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57342874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59699263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973035	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973050	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72973054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991151	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991154	0.86[AFR][1000 genomes]
rs72991157	0.86[AFR][1000 genomes]
rs72991163	0.89[AFR][1000 genomes]
rs72991169	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
2	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
3	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
6	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
7	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:137796200-137811400	Weak transcription	Fetal Brain Male	brain
9	chr3:137801600-137820600	Weak transcription	Spleen	Spleen
10	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:137801800-137812600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:137801800-137815200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:137802200-137818200	Weak transcription	Hela-S3	cervix
14	chr3:137802400-137813200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:137802400-137823200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:137802600-137822200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:137803200-137812200	Weak transcription	Brain Angular Gyrus	brain
18	chr3:137803200-137812800	Weak transcription	Fetal Brain Female	brain
19	chr3:137803200-137815600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
21	chr3:137803400-137812600	Weak transcription	Brain Germinal Matrix	brain
22	chr3:137803400-137820200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:137803400-137822400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:137803600-137816200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:137803800-137813000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:137803800-137813600	Weak transcription	Liver	Liver
27	chr3:137805200-137811200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:137805200-137823400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:137805200-137823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:137805600-137829800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:137805800-137811400	Weak transcription	Fetal Kidney	kidney
32	chr3:137805800-137812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:137805800-137812200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:137805800-137813200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:137805800-137813200	Weak transcription	Aorta	Aorta
36	chr3:137805800-137816400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:137805800-137816400	Weak transcription	Gastric	stomach
38	chr3:137805800-137819000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:137805800-137820600	Weak transcription	Fetal Intestine Small	intestine
40	chr3:137805800-137822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:137806000-137813200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:137806000-137813400	Weak transcription	Fetal Intestine Large	intestine
43	chr3:137806600-137812200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:137806800-137813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:137806800-137813600	Weak transcription	Lung	lung
46	chr3:137807000-137821600	Weak transcription	Brain Anterior Caudate	brain
47	chr3:137807000-137822200	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:137807200-137811400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:137807400-137811400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:137807400-137813200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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