Variant report

Variant	rs12376529
Chromosome Location	chr9:72377095-72377096
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	CTCF	chr9:72377085-72377140	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:72375011..72377307-chr9:72377548..72379098,2	K562	blood:
2	chr9:72375765..72377296-chr9:72428952..72430591,2	K562	blood:
3	chr9:72375672..72377949-chr9:72385605..72387785,2	K562	blood:

Variant related genes	Relation type
PTAR1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10780598	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10867952	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10867966	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10867987	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868033	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868041	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11139997	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11140181	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11140185	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140189	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140204	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140205	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140206	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140208	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11791457	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793130	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13287102	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293591	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293770	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1411411	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536993	0.83[AMR][1000 genomes]
rs2026795	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3904635	0.81[AMR][1000 genomes]
rs4273913	0.83[AMR][1000 genomes]
rs56040923	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7027072	0.80[AMR][1000 genomes]
rs7866040	0.81[AMR][1000 genomes]
rs918337	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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
2	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72375400-72377200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr9:72375400-72377400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:72375400-72377800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:72375400-72379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:72375600-72377200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:72375600-72377200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:72375600-72377400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:72375600-72377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:72375600-72377400	Weak transcription	NHDF-Ad	bronchial
10	chr9:72375600-72377600	Weak transcription	Right Atrium	heart
11	chr9:72375600-72379000	Weak transcription	Fetal Intestine Large	intestine
12	chr9:72375600-72379000	Weak transcription	Fetal Kidney	kidney
13	chr9:72375600-72383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:72375600-72383200	Weak transcription	HSMMtube	muscle
15	chr9:72375800-72377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:72375800-72377400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:72375800-72377400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:72375800-72377400	Weak transcription	A549	lung
19	chr9:72375800-72377400	Weak transcription	NH-A	brain
20	chr9:72375800-72377400	Weak transcription	Osteobl	bone
21	chr9:72375800-72378000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:72375800-72379000	Weak transcription	HepG2	liver
23	chr9:72376400-72377600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:72376400-72377800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:72376600-72377200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:72376600-72377200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:72376600-72377200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:72376600-72377400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:72376600-72377400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:72376800-72377200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:72376800-72378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:72377000-72377200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:72377000-72377400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:72377000-72377400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:72377000-72377600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:72377000-72378000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:72377000-72378200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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