Variant report

Variant	rs57464764
Chromosome Location	chr9:94620752-94620753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94615667..94617326-chr9:94618676..94621395,2	K562	blood:
2	chr9:94619022..94622671-chr9:94625624..94629747,5	K562	blood:
3	chr9:94620628..94622130-chr9:130690282..130691903,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167103	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11787708	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11788423	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11788545	0.88[ASN][1000 genomes]
rs11789408	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790201	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790345	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11791415	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792371	0.94[ASN][1000 genomes]
rs11792593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11792667	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11792818	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11793320	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11793706	0.96[ASN][1000 genomes]
rs11794240	0.88[ASN][1000 genomes]
rs11794532	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907863	0.96[ASN][1000 genomes]
rs16907923	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2141369	1.00[ASN][1000 genomes]
rs35783050	1.00[ASN][1000 genomes]
rs36034285	1.00[ASN][1000 genomes]
rs4641128	0.81[AFR][1000 genomes]
rs57944742	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58089833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58978642	0.88[AFR][1000 genomes]
rs59646330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61199056	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7026615	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7045662	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73517062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73517065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73517077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73517083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73517089	0.88[AFR][1000 genomes]
rs73517090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73517091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73517094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73519106	0.86[AFR][1000 genomes]
rs73519110	0.83[AFR][1000 genomes]
rs7853161	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7867837	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871170	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874281	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94615200-94621000	Enhancers	Fetal Heart	heart
2	chr9:94616400-94621400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:94616800-94621400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94617400-94621400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:94617600-94621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:94617600-94621400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:94617800-94621200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr9:94617800-94621400	Enhancers	Colon Smooth Muscle	Colon
9	chr9:94617800-94621400	Enhancers	Rectal Smooth Muscle	rectum
10	chr9:94618000-94621200	Enhancers	Fetal Thymus	thymus
11	chr9:94618600-94621000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:94618600-94621400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:94618800-94621000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:94618800-94621000	Enhancers	Fetal Kidney	kidney
15	chr9:94618800-94621200	Enhancers	Fetal Stomach	stomach
16	chr9:94618800-94621400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:94618800-94621400	Enhancers	Fetal Lung	lung
18	chr9:94619000-94620800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:94619000-94620800	Enhancers	Ovary	ovary
20	chr9:94619000-94621000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:94619000-94621400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:94619000-94621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:94619000-94621400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:94619200-94620800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:94619200-94621200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:94619200-94621400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:94619200-94621400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr9:94619400-94620800	Enhancers	Fetal Muscle Leg	muscle
29	chr9:94619600-94620800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr9:94619600-94620800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:94619600-94621200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:94619600-94621400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:94619600-94621400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:94619800-94621400	Enhancers	Placenta	Placenta
35	chr9:94620200-94620800	Bivalent Enhancer	Fetal Brain Male	brain
36	chr9:94620200-94621200	Enhancers	Right Atrium	heart
37	chr9:94620200-94621400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:94620200-94621400	Enhancers	K562	blood
39	chr9:94620400-94620800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:94620400-94620800	Enhancers	Pancreas	Pancrea
41	chr9:94620400-94621000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr9:94620400-94621200	Enhancers	Stomach Mucosa	stomach
43	chr9:94620400-94621200	Enhancers	Spleen	Spleen
44	chr9:94620400-94621400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:94620400-94621400	Enhancers	Esophagus	oesophagus
46	chr9:94620400-94621400	Enhancers	Gastric	stomach
47	chr9:94620400-94622200	Weak transcription	Fetal Intestine Small	intestine
48	chr9:94620600-94620800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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