Variant report

Variant	rs59529453
Chromosome Location	chr7:121785146-121785147
allele	A/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	GATA1	chr7:121783130-121785299	PBDE	blood:	n/a	chr7:121784135-121784144
2	RFX5	chr7:121783522-121785323	SK-N-SH	brain:	n/a	chr7:121783837-121783845 chr7:121784372-121784381
3	POLR2A	chr7:121779393-121785454	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
AASS	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10488107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147489	0.82[ASN][1000 genomes]
rs11977512	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12113399	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12530583	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12538079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17616983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2109333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2268077	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300199	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4727938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57341517	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59110694	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59224714	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59993706	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60159595	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61624073	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6948443	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6952698	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6954944	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72499551	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73224332	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73224336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73224339	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73226257	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73226277	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73226300	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784030	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7810763	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121779600-121785400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:121781200-121785200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:121781200-121785200	Active TSS	Right Ventricle	heart
4	chr7:121781600-121785800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:121783000-121785200	Active TSS	Brain Anterior Caudate	brain
6	chr7:121783000-121785200	Active TSS	Right Atrium	heart
7	chr7:121783200-121785200	Active TSS	Brain Substantia Nigra	brain
8	chr7:121783400-121785200	Active TSS	Brain Hippocampus Middle	brain
9	chr7:121783400-121785200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:121783800-121785200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:121784400-121785200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr7:121784400-121785200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:121784600-121785200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:121784600-121785200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr7:121784800-121785200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:121784800-121785200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:121784800-121785200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:121784800-121785200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:121784800-121785200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:121784800-121785200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:121784800-121785200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr7:121784800-121785200	Enhancers	Stomach Mucosa	stomach
23	chr7:121784800-121785400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:121784800-121785400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:121784800-121785400	Flanking Active TSS	Fetal Heart	heart
26	chr7:121784800-121788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:121785000-121785200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:121785000-121785200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:121785000-121785200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:121785000-121785200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:121785000-121785200	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:121785000-121785200	Bivalent Enhancer	Primary T cells from cord blood	blood
33	chr7:121785000-121785200	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:121785000-121785200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:121785000-121785200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:121785000-121785200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr7:121785000-121785200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr7:121785000-121785200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:121785000-121785200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:121785000-121785200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:121785000-121785200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:121785000-121785200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:121785000-121785200	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:121785000-121785200	Enhancers	Left Ventricle	heart
45	chr7:121785000-121785200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr7:121785000-121785200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:121785000-121785200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:121785000-121785200	Active TSS	Stomach Smooth Muscle	stomach
49	chr7:121785000-121785200	Enhancers	HepG2	liver
50	chr7:121785000-121785200	Enhancers	NHLF	lung

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