Variant report

Variant	rs72923184
Chromosome Location	chr3:67560040-67560041
allele	C/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	FOS	chr3:67559942-67560142	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr3:67559903-67560185	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:67559865-67560104	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr3:67559934-67560155	SK-N-SH	brain:	n/a	n/a
5	USF1	chr3:67559912-67560329	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:85456347..85458098-chr3:67558875..67561641,2	MCF-7	breast:

Variant related genes	Relation type
NDUFB4P1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34371385	1.00[AMR][1000 genomes]
rs60329155	1.00[AMR][1000 genomes]
rs60491174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1012416	chr3:67546244-67615531	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:67500800-67567000	Weak transcription	Pancreas	Pancrea
3	chr3:67508200-67577600	Weak transcription	Spleen	Spleen
4	chr3:67511800-67565000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:67513200-67564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:67513400-67567800	Weak transcription	NHLF	lung
7	chr3:67521600-67580400	Weak transcription	Stomach Mucosa	stomach
8	chr3:67524200-67567000	Weak transcription	Placenta	Placenta
9	chr3:67526800-67583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:67528200-67564400	Weak transcription	Fetal Lung	lung
11	chr3:67528200-67564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:67530200-67560200	Weak transcription	NHEK	skin
13	chr3:67531400-67576200	Weak transcription	HMEC	breast
14	chr3:67533200-67577000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:67533400-67577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:67534400-67576400	Weak transcription	Aorta	Aorta
17	chr3:67534600-67566200	Weak transcription	Gastric	stomach
18	chr3:67534800-67560200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:67534800-67566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:67535000-67578800	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:67537400-67579600	Weak transcription	Small Intestine	intestine
22	chr3:67537600-67560200	Weak transcription	HSMMtube	muscle
23	chr3:67537600-67566800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:67540800-67564400	Weak transcription	Fetal Kidney	kidney
25	chr3:67541400-67582000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:67542400-67564800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:67542400-67566400	Weak transcription	NH-A	brain
28	chr3:67543200-67566000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:67544200-67580200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:67544400-67567200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:67544600-67560200	Weak transcription	Psoas Muscle	Psoas
32	chr3:67544800-67577600	Weak transcription	Thymus	Thymus
33	chr3:67545400-67564400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:67546400-67565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:67546600-67563800	Weak transcription	Dnd41	blood
36	chr3:67546600-67564000	Weak transcription	HSMM	muscle
37	chr3:67546600-67564600	Weak transcription	A549	lung
38	chr3:67546600-67564800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr3:67546600-67566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:67546800-67565000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:67547000-67564200	Weak transcription	Colonic Mucosa	Colon
42	chr3:67552000-67566800	Weak transcription	HepG2	liver
43	chr3:67552200-67566200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:67553600-67560600	Strong transcription	Liver	Liver
45	chr3:67553600-67560800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:67553800-67579600	Weak transcription	Hela-S3	cervix
47	chr3:67554600-67560600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:67554600-67565000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:67554600-67577800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:67555200-67563600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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