Variant report

Variant	rs12325573
Chromosome Location	chr16:47636656-47636657
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	POLR2A	chr16:47636597-47636937	K562	blood:	n/a	n/a

Variant related genes	Relation type
NDUFA5P11	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11247417	0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17811434	0.84[EUR][1000 genomes]
rs34535698	0.84[EUR][1000 genomes]
rs4966454	0.96[CEU][hapmap];0.84[CHB][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9797024	0.80[AMR][1000 genomes];0.80[EUR][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	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:47599800-47651200	Weak transcription	A549	lung
3	chr16:47609000-47646600	Weak transcription	NHLF	lung
4	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:47620400-47653000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:47621200-47651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:47625000-47642400	Weak transcription	Fetal Brain Male	brain
8	chr16:47625200-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:47625400-47636800	Weak transcription	Fetal Heart	heart
10	chr16:47625600-47642400	Weak transcription	Right Ventricle	heart
11	chr16:47625600-47645800	Weak transcription	NHEK	skin
12	chr16:47625800-47645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:47625800-47645800	Weak transcription	Psoas Muscle	Psoas
14	chr16:47625800-47646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:47625800-47651400	Weak transcription	Brain Angular Gyrus	brain
16	chr16:47626000-47644800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:47626200-47650400	Weak transcription	Osteobl	bone
18	chr16:47626200-47651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:47626200-47676600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:47626200-47677600	Weak transcription	Aorta	Aorta
21	chr16:47626400-47647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:47626400-47648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr16:47626400-47648600	Weak transcription	Colonic Mucosa	Colon
24	chr16:47626400-47649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:47626400-47657200	Weak transcription	Hela-S3	cervix
26	chr16:47626400-47659800	Weak transcription	Fetal Lung	lung
27	chr16:47626400-47670400	Weak transcription	Fetal Intestine Small	intestine
28	chr16:47626600-47637800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr16:47626600-47638200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:47626600-47638200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:47626600-47640400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:47626600-47640400	Weak transcription	Left Ventricle	heart
33	chr16:47626600-47641000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:47626600-47644400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:47626600-47644600	Weak transcription	Fetal Kidney	kidney
36	chr16:47626600-47644800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr16:47626600-47644800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:47626600-47645000	Weak transcription	HUVEC	blood vessel
39	chr16:47626600-47645200	Weak transcription	Thymus	Thymus
40	chr16:47626600-47646000	Weak transcription	HMEC	breast
41	chr16:47626600-47646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:47626600-47646800	Weak transcription	Gastric	stomach
43	chr16:47626600-47647000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr16:47626600-47647000	Weak transcription	NHDF-Ad	bronchial
45	chr16:47626600-47647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:47626600-47647200	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:47626600-47649200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:47626600-47651400	Weak transcription	Brain Anterior Caudate	brain
49	chr16:47626600-47651400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:47626600-47651600	Weak transcription	Brain Germinal Matrix	brain

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