Variant report

Variant	rs73148071
Chromosome Location	chr7:65396141-65396142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65393026..65394562-chr7:65395540..65397050,2	K562	blood:
2	chr7:65395530..65397134-chr7:65443851..65445715,2	K562	blood:

Variant related genes	Relation type
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1084094	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10950014	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10950015	0.86[EUR][1000 genomes]
rs10950018	0.87[EUR][1000 genomes]
rs10950021	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10950022	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167398	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11767030	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11773552	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532875	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532877	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534626	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535204	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12538430	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12540589	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12671816	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2264667	0.83[EUR][1000 genomes]
rs2420048	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs313811	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs382062	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs401176	0.86[EUR][1000 genomes]
rs4535605	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs453835	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717280	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718287	0.86[EUR][1000 genomes]
rs4718296	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4718298	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59187325	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60711791	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460265	0.86[EUR][1000 genomes]
rs6460266	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6950688	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6950821	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6958860	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6959267	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971490	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6971690	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142138	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73142150	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142153	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142155	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779679	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7786356	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800210	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7803283	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7807457	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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	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	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
3	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised 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	125 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73148071	RP13-254B10.1	cis	Esophagus Mucosa	GTEx
rs73148071	RP4-756H11.3	cis	Thyroid	GTEx
rs73148071	RP4-756H11.3	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:65368800-65403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:65369600-65403600	Weak transcription	Fetal Stomach	stomach
8	chr7:65369600-65405800	Weak transcription	NHEK	skin
9	chr7:65373000-65403200	Weak transcription	A549	lung
10	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:65374800-65402800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:65375400-65396600	Weak transcription	Liver	Liver
14	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
15	chr7:65377600-65402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
17	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
19	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
22	chr7:65384000-65405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:65384400-65401800	Weak transcription	Dnd41	blood
24	chr7:65385200-65401800	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:65385600-65396800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:65389400-65396600	Weak transcription	Psoas Muscle	Psoas
27	chr7:65389400-65406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
29	chr7:65390400-65403800	Weak transcription	Adipose Nuclei	Adipose
30	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
31	chr7:65390600-65423800	Weak transcription	Gastric	stomach
32	chr7:65390800-65401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:65392600-65418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:65392800-65396800	Weak transcription	Lung	lung
35	chr7:65392800-65396800	Weak transcription	HepG2	liver
36	chr7:65392800-65397000	Weak transcription	Left Ventricle	heart
37	chr7:65392800-65402200	Weak transcription	Primary T cells from cord blood	blood
38	chr7:65392800-65412600	Weak transcription	Pancreas	Pancrea
39	chr7:65393000-65401400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:65393000-65411800	Weak transcription	Ovary	ovary
41	chr7:65393200-65419600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:65393400-65401400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:65393400-65419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:65393800-65400200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:65393800-65403600	Weak transcription	Fetal Intestine Large	intestine
46	chr7:65394000-65403200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:65395600-65403600	Weak transcription	K562	blood
48	chr7:65395600-65403800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:65395600-65420400	Weak transcription	Esophagus	oesophagus
50	chr7:65395800-65420000	Weak transcription	Fetal Lung	lung

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