Variant report

Variant	rs73142153
Chromosome Location	chr7:65367297-65367298
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65366932..65368571-chr7:65372098..65374403,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1084094	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10950014	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10950015	0.91[EUR][1000 genomes]
rs10950018	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10950021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950022	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1167398	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11767030	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773552	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532875	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532877	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12534626	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12535204	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12538430	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12540589	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12671816	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264667	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2420048	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs313811	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs382062	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs401176	0.84[EUR][1000 genomes]
rs4535605	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs453835	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4717280	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718287	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4718296	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4718298	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59187325	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60374987	0.80[AMR][1000 genomes]
rs60711791	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460265	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6460266	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6950688	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6950821	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958860	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6959267	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6971490	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73138179	0.80[AMR][1000 genomes]
rs73142138	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73142150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73142155	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148071	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779679	0.83[EUR][1000 genomes]
rs7786356	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7800210	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803283	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7807457	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1029800	chr7:65309327-65367692	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73142153	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs73142153	RP4-756H11.3	cis	Thyroid	GTEx
rs73142153	RP13-254B10.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339200-65372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65339400-65371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:65339600-65368600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:65339600-65370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:65339600-65371600	Weak transcription	Thymus	Thymus
6	chr7:65339600-65381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:65339600-65394400	Weak transcription	HMEC	breast
8	chr7:65340000-65370200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:65345800-65367600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:65349600-65367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:65349600-65368400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:65351800-65389200	Weak transcription	Lung	lung
14	chr7:65353000-65371600	Weak transcription	Liver	Liver
15	chr7:65353200-65371200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:65353400-65367600	Weak transcription	Fetal Intestine Large	intestine
17	chr7:65354000-65369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:65357400-65372600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:65357400-65381000	Weak transcription	Primary B cells from cord blood	blood
21	chr7:65357600-65375600	Weak transcription	HSMM	muscle
22	chr7:65358000-65369200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:65358000-65375400	Weak transcription	Fetal Heart	heart
24	chr7:65358200-65367600	Weak transcription	Fetal Thymus	thymus
25	chr7:65358200-65369600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
27	chr7:65358400-65374200	Weak transcription	Ovary	ovary
28	chr7:65362600-65383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:65364200-65369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:65364400-65367400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:65364400-65371200	Weak transcription	Pancreas	Pancrea
32	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
33	chr7:65364600-65369600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:65364800-65367400	Weak transcription	Dnd41	blood
35	chr7:65364800-65377800	Weak transcription	Osteobl	bone
36	chr7:65364800-65387400	Weak transcription	K562	blood
37	chr7:65365800-65368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:65366000-65371800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:65366200-65367400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:65366200-65367400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:65366200-65367400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:65366200-65370200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:65366400-65369400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr7:65366400-65371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:65366600-65367400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr7:65366600-65367600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:65366600-65367600	ZNF genes & repeats	HepG2	liver
49	chr7:65366600-65367600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr7:65366800-65367400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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